Hans Aerts
Emeritus hoogleraar Medische biochemie
- Naam
- Prof.dr. J.M.F.G. Aerts
- Telefoon
- +31 71 527 4771
- j.m.f.g.aerts@lic.leidenuniv.nl
- ORCID iD
- 0000-0001-8168-2565
Meer informatie is beschikbaar op de Engelse profielpagina.
Nieuws
-
Leidse ontdekking leidt tot nieuwe theorie voor enzymatische reacties -
Wetenschap vertalen in behandelingen voor zeldzame metabole ziekten -
Enzymen veranderen voor schone energie en ziektepreventie -
Doorbraak Leidse wetenschappers in bestuderen ziekte van Pompe -
Twee miljoen voor bio-chemisch onderzoek -
Opruimers gezocht voor cellen vol onverteerd afval -
Stofwisselingsenzym zichtbaar gemaakt in levend weefsel -
Dr. Tom Wennekes wint Farmacochemieprijs
Emeritus hoogleraar Medische biochemie
- Wiskunde en Natuurwetenschappen
- Leiden Institute of Chemistry
- LIC/Chemical Biology
- LIC/CB/Medical Biochemistry
- Papadopoulou P., Pol R. van der, Hilten N. van, Os W.L. van, Pattipeiluhu R., Arias Alpizar G., Knol R.A., Noteborn W., Moradi M., Joao Ferraz M., Aerts J.M.F.G, Sommerdijk N.A.J.M., Campbell F., Risselada H.J., Sevink G.J.A. & Kros A. (2024), Phase-separated lipid-based nanoparticles: selective behavior at the nano-bio interface, Advanced Materials 36(6): 2310872.
- Wheeler S., Bhardwaj M., Kenyon V., Guimaraes Da Lomba Ferraz M.J., Aerts J.M.F.G. & Sillence D.J. (2024), Mitochondrial dysfunction in NPC1-deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol-binding proteins TSPO and StARD1, FEBS Letters 598(4): 477-484.
- Ofman T.P., Heming J.J.A., Nin-Hill A., Küllmer F., Moran E., Bennett M., Steneker R., Klein A.M., Ruijgrok G., Kok K., Armstrong Z.W.B., Aerts J.M.F.G., Marel G.A. van der, Rovira C., Davies G.J., Artola M.E., Codée J.D.C. & Overkleeft H.S. Rovira Carme Davies Gideon J. Artola Marta Codée Jeroen D. C. Overkleeft Herman S. (2024), Conformational and electronic variations in 1,2‐ and 1,5a‐Cyclophellitols and their impact on retaining α‐glucosidase inhibition, Chemistry: a European Journal 30(31): e202400723.
- Artola Perez de Azanza M.E., Aerts J.M.F.G., Marel G.A. van der, Rovira C., Codee J.D.C., Davies G.J. & Overkleeft H.S. (2024), From mechanism-based retaining glycosidase inhibitors to activity-based glycosidase profiling, Journal of the American Chemical Society 146(36): 24729-24741.
- Koemans T.S., Bennett M., Guimaraes Da Lomba Ferraz M.J., Armstrong Z.W.B., Artola Perez de Azanza M.E., Aerts J.M.F.G., Codee J.D.C., Overkleeft H.S. & Davies G.J. (2024), Structure-guided design of C3-branched swainsonine as potent and selective human Golgi α-mannosidase (GMII) inhibitor, Chemical Communications : .
- Gracht D. van der, Rowland R.J., Roig-Zamboni V., Guimaraes Da Lomba Ferraz M.J., Louwerse G.A.M., Geurink P.P., Aerts J.M.F.G., Sulzenbacher G., Davies G.J., Overkleeft H.S. & Artola Perez de Azanza M.E. (2023), Fluorescence polarisation activity-based protein profiling for the identification of deoxynojirimycin-type inhibitors selective for lysosomal retaining alpha- and beta-glucosidases, Chemical Science 14(34): 9136-9144.
- Kuo C.L., Su Q., Nieuwendijk A.M.C.H. van den, Beenakker T.J.M., Offen W.A., Willems L.I., Boot R.G., Sarris A.J.C., Rosa Alcalde Marques A.R.A., Codée J.D.C., Marel G.A. van der, Florea B.I., Davies G.J., Overkleeft H.S. & Aerts J.M.F.G. (2023), The development of a broad-spectrum retaining β-exo-galactosidase activity-based probe, Organic and Biomolecular Chemistry 21(38): 7813-7820.
- Moraitou M., Sotiroudis G., Papagiannakis N., Ferraz M.J., Xenakis A., Aerts J.M.F.G., Stefanis L. & Michelakakis H. (2023), a-Synuclein and lipids in erythrocytes of Gaucher disease carriers and patients before and after enzyme replacement therapy, PLoS ONE 18(2): e0277602.
- Eskes E.C.B, Lienden M.J.C. van der, Sjouke B., Vliet L. van, Brands M.M.M.G., Hollak C.E.M. & Aerts J.M.F.G. (2023), Glycoprotein non-metastatic protein B (GPNMB) plasma values in patients with chronic visceral acid sphingomyelinase deficiency, Molecular Genetics and Metabolism 139(4): 107631.
- Fan J., Hale V.L., Lelieveld L.T., Whitworth L.J., Busch-Nentwich E.M., Troll M., Edelstein P.H., Cox T.M., Roca F.J., Aerts J.M.F.G. & Ramakrishnan L. (2023), Gaucher disease protects against tuberculosis, Proceedings of the National Academy of Sciences 120(7): e2217673120.
- Papadopoulou P., Pol R. van der, Hilten N. van, Moradi M.A., Ferraz M.J., Aerts J.M.F.G., Sommerdijk N., Risselada H.J., Sevink G.J.A. & Kros A. (2023), Lipase-mediated selective hydrolysis of lipid droplets in phase separated-liposomes . ChemRXiv_Biological and Chemical Chemistry. [working paper].
- Males A., Kok K., Nin-Hill A., Koster N. de, Beukel S. van den, Beenakker T.J.M., Marel G.A. van der, Codée J.D.C., Aerts J.M.F.G., Overkleeft H.S., Rovira C., Davies G. & Artola Perez de Azanza M.E. (2023), Trans-cyclosulfamidate mannose-configured cyclitol allows isoform-dependent inhibition of GH47 α-d-mannosidases through a bump–hole strategy, Chemical Science 14(46): 13581-13586.
- Cabasso O., Kuppuramalingam A., Lelieveld L.T., Lienden M.J.C. van der, Boot R.G., Aerts J.M.F.G. & Horowitz M. (2023), Animal models for the study of Gaucher disease, International Journal of Molecular Sciences 24(22): 16035.
- Su Q., Schroder S.P., Lelieveld L.T., Guimaraes Da Lomba Ferraz M.J., Verhoek M., Boot R.G., Overkleeft H.S., Aerts J.M.F.G., Artola Perez de Azanza M.E. & Kuo C.L. (2023), Corrigendum: Xylose-configured cyclophellitols as selective inhibitors for glucocerebrosidase, ChemBioChem 24(3): e202300728.
- McGregor N.G.S., Kuo C.L., Beenakker T.J.M., Wong C.S., Offen W.A., Armstrong Z.W.B., Florea B.I., Codee J.D.C., Overkleeft H.S., Aerts J.M.F.G. & Davies G.J. (2022), Synthesis of broad-specificity activity-based probes for exo-beta-mannosidases, Organic and Biomolecular Chemistry 20(4): 877-886.
- Nami F., Joao Ferraz M., BakkumT., Aerts J.M.F.G. & Pandit A. (2022), Real‐Time NMR recording of fermentation and lipid metabolism processes in live microalgae cells, Angewandte Chemie (International Edition) : e202117521.
- Lelieveld L.T., Gerhardt S., Maas S., Zwiers K.C., Wit C. de, Beijk E.H., Guimaraes Da Lomba Ferraz M.J., Artola Perez de Azanza M.E., Meijer A.H., Tudorache C., Salvatori D., Boot R.G. & Aerts J.M.F.G. (2022), Consequences of excessive glucosylsphingosine in glucocerebrosidase-deficient zebrafish, Journal of Lipid Research 63(5): 100199.
- Kok K., Kuo C.L., Katzy R.E., Lelieveld L.T., Wu L., Roig-Zamboni V., Marel G.A. van der, Codee J.D.C., Sulzenbacher G., Davies G.J., Overkleeft H.S., Aerts J.M.F.G. & Artola Perez de Azanza M.E. (2022), 1,6-epi-Cyclophellitol cyclosulfamidate is a bona fide lysosomal α-glucosidase stabilizer for the treatment of Pompe disease, Journal of the American Chemical Society 144(32): 14819-14827.
- Katzy R.E., Guimaraes Da Lomba Ferraz M.J., Hazeu M.D., Overkleeft H.S. & Aerts J.M.F.G. (2022), In situ glucosylceramide synthesis and its pharmacological inhibition analysed in cells by 13C5-sphingosine precursor feeding and mass spectrometry, FEBS Letters 596(18): 2400-2408.
- Barral D.C., Staiano L., Almeida C.G., Cutler D.F., Eden E.R., Futter C.E., Galione A., Marques A.R.A., Medina D.L., Napolitana G., Settembre C., Vieira O.V., Aerts J.M.F.G., Atakpa-Adaji P., Bruno G., Capuozzo A., De Leonibus E., Di Malta C., Escrevente C., Esposito A., Grumati P., Hall M.J., Teodoro R.O., Lopes S.S., Luzio J.P., Monfregola J., Montefusco S., Platt F.M., Polishchuck R., De Risi M., Sambri I., Soldati C. & Seabra M.C. (2022), Current methods to analyze lysosome morphology, positioning, motility and function, Traffic 23(5): 238-269.
- Lienden M.J.C. van der, Aten J., Boot R.G., Eijk M.C. van, Aarts J.M.F.G. & Kuo C.L. (2022), HEPES‐buffering of bicarbonate‐containing culture medium perturbs lysosomal glucocerebrosidase activity, Journal of Cellular Biochemistry 123(5): 893-905.
- Dardis A. Michelakakis H. Rozenfeld P. Fumic K. Wagner J. Pavan E. Fuller M. Revel-Vilk S. Hughes D. Cox T. Aerts J.M.F.G. (2022), Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1, Orphanet Journal of Rare Diseases 17(1): 442.
- Garcia-Sanz P., Aerts J.M.F.G. & Moratalla R. (2021), The role of cholesterol in alpha-Synuclein and Lewy body pathology in GBA1 Parkinson's disease, Movement Disorders 36(5): 1070-1085.
- Bichet D.G., Aerts J.M.F.G., Auray-Blais C., Maruyama H., Mehta A.B., Skuban N., Krusinska E. & Schiffmann R. (2021), Assessment of plasma lyso-Gb(3)for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease, Genetics in Medicine 23: 192-201.
- Chen Y., Armstrong Z., Artola M., Florea B.I., Kuo C.L., Boer C. de, Rasmussen M.S., Abou Hachem M., Marel G.A. van der, Codee J.D.C., Aerts J.M.F.G., Davies G.J. & Overkleeft H.S. (2021), Activity-based protein profiling of retaining alpha-amylases in complex biological samples, Journal of the American Chemical Society 143(5): 2423-2432.
- Marneth K., Elst H. van den, Cramer-Blok A.J., Codee J.D.C., Overkleeft H.S., Aerts J.M.F.G., Ubbink M. & Ben Bdira F. (2021), Tuning the transglycosylation reaction of a GH11 xylanase by a delicate enhancement of its thumb flexibility, ChemBioChem 22(10): 1743-1749.
- Kok K., Zwiers K.C., Boot R.G., Overkleeft H.S., Aerts J.M.F.G. & Artola M. (2021), Fabry disease: molecular basis, pathophysiology, diagnostics and potential therapeutic directions, Biomolecules 11(2): 271.
- Boer D.E., Mirzaian M., Ferraz M.J., Zwiers K.C., Baks M.V., Hazeu M.D., Ottenhoff R., Marques A.R.A., Meijer R., Roos J.C.P., Cox T.M., Boot R.G., Pannu N., Overkleeft H.S., Artola M. & Aerts J.M.F.G. (2021), Human glucocerebrosidase mediates formation of xylosyl-cholesterol by beta-xylosidase and transxylosidase reactions, Journal of Lipid Research 62: 100018.
- Su Q., Schröder S.P., Lelieveld L.T., Ferraz M.J., Verhoek M., Boot R.G., Overkleeft H.S., Aerts J.M.F.G., Artola M. & Kuo C.L. (2021), Xylose-configured cyclophellitols as selective inhibitors for glucocerebrosidase, ChemBioChem 22(21): 3090-3098.
- Rowland R.J., Chen Y., Breen I., Wu L., Offen W.A., Beenakker T.J.M., Su Q., Nieuwendijk A.M.C.H. van den, Aerts J.M.F.G., Artola Perez de Azanza M.E., Overkleeft H.S. & Davies G.J. (2021), Design, Synthesis and Structural Analysis of Glucocerebrosidase Imaging Agents, Chemistry: a European Journal 27: 1-13.
- Bichet D.G., Aerts J.M.F.G., Auray-Blais C., Maruyama H., Mehta A., Skuban N., Krusinska E. & Schiffmann R. (2021), Correction: Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease, Genetics in Medicine 23(1): 238.
- Lienden M.J.C. van der, Aten J., Marques A.R.A., Waas I.S.E., Larsen P.W.B., Claessen N., Wel N.N. van der, Ottenhoff R., Eijk M.C. van & Aerts J.M.F.G. (2021), GCase and LIMP2 abnormalities in the liver of Niemann Pick type C mice, International Journal of Molecular Sciences 22(5): 2532.
- Cabasso O., Paul S., Maor G., Pasmanik-Chor M., Kallemeijn W.W., Aerts J.M.F.G. & Horowitz M. (2021), The uncovered function of the Drosophila GBA1a-encoded protein, Cells 10(3): 630.
- Eijk M.C. van & Aerts J.M.F.G. (2021), The unique phenotype of lipid-laden macrophages, International Journal of Molecular Sciences 22(8): 4039.
- Dahl M., Smith E.M.K., Warsi S., Rothe M., Guimaraes De Lomba Ferraz M.J., Aerts J.M.F.G., Golipour A., Harper C., Pfeifer R., Pizzurro D., Schambach A., Mason C. & Karlsson S. (2021), Correction of pathology in mice displaying Gaucher disease type 1 by a clinically-applicable lentiviral vector, Molecular Therapy: Methods and Clinical Development 20: 312-323.
- Hoedt S. den, Crivelli S.M., Leijten F.P.J., Losen M., Stevens J.A.A., Mane-Damas M., Vries H.E. de, Walter J., Mirzaian M., Sijbrands E.J.G., Aerts J.M.F.G., Verhoeven A.J.M., Martinez-Martinez P. & Mulder M.T. (2021), Effects of sex, age, and apolipoprotein E genotype on brain ceramides and sphingosine-1-phosphate in Alzheimer's disease and control mice, Frontiers in Aging Neuroscience 13: 765252.
- Eskes E.C.B., Lienden M.J.C. van der, Roelofs J.J.T.H., Vogt L., Aerts J.M.F.G., Aten J. & Hollak C.E.M. (2021), Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease, Journal of Inherited Metabolic Disease Reports 62(1): 15-21.
- Boer D.E.C., Smeden J. van, Al-Khakany H., Melnik E., Dijk R. van, Absalah S., Vreeken R.J., Haenen C.C.P., Lavrijsen A.P.M., Overkleeft H.S., Aerts J.M.F.G. & Bouwstra J.A. (2020), Skin of atopic dermatitis patients shows disturbed β-glucocerebrosidase and acid sphingomyelinase activity that relates to changes in stratum corneum lipid composition, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1865(6): 158673.
- Kytidou K., Artola M., Overkleeft H.S. & Aerts J.M.F.G. (2020), Plant Glycosides and Glycosidases: A Treasure-Trove for Therapeutics, Frontiers in Plant Science 11: 357.
- Smeden J. van, Al-Khakany H., Wang Y., Visscher D., Stephens N., Absalah S., Overkleeft H.S., Aerts J.M.F.G., Hovnanian A. & Bouwstra J.A. (2020), Skin barrier lipid enzyme activity in Netherton patients is associated with protease activity and ceramide abnormalities, Journal of Lipid Research 61(6): 859-869.
- Ubbink M., Ben Bdira F, Waudby C.A., Volkov A.N., Schröder S.P., Ab E., Codée J.D.C., Overkleeft H.S., Aerts J.M.F.G. & Ingen H. van (2020), Dynamics of ligand binding to a rigid glycosidase, Angewandte Chemie (International Edition) 59(46): 20508-20514.
- Armstrong Z., Kuo C.L., Lahav D., Liu B., Johnson R., Beenakker T.J.M., Boer C. de, Wong C.S., Rijssel E.R. van, Debets M.F., Florea B.I., Hissink C., Boot R.G., Geurink P.P., Ovaa H., Stelt M. van der, Marel G.A. van der, Codée J.D.C., Aerts J.M.F.G., Wu L., Overkleeft H.S. & Davies G.J. (2020), Manno-epi-cyclophellitols enable activity-based protein profiling of human α-mannosidases and discovery of new golgi mannosidase II inhibitors, Journal of the American Chemical Society 142(30): 13021-13029.
- Boer D.E.C. Smeden J. van Bouwstra J.A Aerts J.M.F.G. (2020), Glucocerebrosidase: Functions in and Beyond the Lysosome, Journal of Clinical Medicine 9(3): 736-766.
- Boer D.E.C., Mirzaian M., Ferraz M.J., Nadaban A., Schreuder A., Hovnanian A., Smeden J. van, Bouwstra J.A. & Aerts J.M.F.G. (2020), Glucosylated cholesterol in skin: synthetic role of extracellular glucocerebrosidase, Clinica Chimica Acta 510: 707-710.
- Boer D.E.C., Mirzaian M., Ferraz M.J., Zwiers K.C., Baks M.V., Hazeu M.D., Ottenhoff R., Marques A.R.A., Meijer R., Roos J.P.C., Cox T.M., Boot R.G., Pannu N., Overkleeft H.S., Artola M. & Aerts J.M.F.G. (2020), Human glucocerebrosidase mediates formation of xylosyl-cholesterol by β-xylosidase and transxylosidase reactions, Journal of Lipid Research 61(12): jlr.RA120001043.
- Eskes E.C.B., Sjouke B., Vaz F.M., Goorden S.M.I., Kuilenburg A.B.P. van, Aerts J.M.F.G. & Hollak C.E.M. (2020), Biochemical and imaging parameters in acid sphingomyelinase deficiency: potential utility as biomarkers, Molecular Genetics and Metabolism 130(1): 16-26.
- Akiyama H., Ide M., Nagatsuka Y., Sayano T., Nakanishi E., Uemura N., Yuyama K., Yamaguchi Y., Kamiguchi H., Takahashi R., Aerts J.M.F.G., Greimel P. & Hirabayashi Y. (2020), Glucocerebrosidases catalyze a transgalactosylation reaction that yields a newly-identified brain sterol metabolite, galactosylated cholesterol, Journal of Biological Chemistry 295(16): 5257-5277.
- Mohamed M., Gardeitchik T., Balasubramaniam S., Guerrero-Castillo S., Dalloyaux D., Kraaij S. van, Venselaar H., Hoischen A., Urban Z., Brandt U., Al-Shawi R., Simons J.P., Frison M., Ngu L.H., Callewaert B., Spelbrink H., Kallemeijn W.W., Aerts J.M.F.G., Waugh M.G., Morava E. & Wevers R.A. (2020), Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa, Journal of Inherited Metabolic Disease 43(6): 1382-1391.
- Mhanni A.A., Auray-Blais C., Boutin M., Johnston A., LeMoine K., Patterson J., Aerts J.M.F.G., West M.L. & Rockman-Greenberg C. (2020), Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres, Molecular Genetics and Metabolism Reports 24: 100618.
- Horowitz M., Paul S., Dorot O., Maor G., Aerts J.M.F.G. & Cabasso O. (2020), Inflammation and its alleviation in a fly model for neuronopathic Gaucher disease, Molecular Genetics and Metabolism 129(2): S74-S75.
- Schiffmann R., Bichet D.G., Aerts J.M.F.G., Skuban N. & Mehta A.B. (2020), Lyso-Gb3 is not a predictive biomarker of treatment response in migalastat-treated patients with migalastat-amenable variants, Molecular Genetics and Metabolism 129(2): S144.
- Eijk M. van, Ferraz M.J., Boot R.G. & Aerts J.M.F.G. (2020), Lyso-glycosphingolipids: presence and consequences, Essays in Biochemistry 64(3): 565-578.
- Artola M., Kuo C.L., Lelieveld L.T., Rowland R.J., Marel G.A. van der, Codée J.D.C., Boot R.G., Davies G.J., Aerts J.M.F.G. & Overkleeft H.S. (2019), Functionalized cyclophellitols are selective glucocerebrosidase inhibitors and induce a bona fide neuropathic Gaucher model in zebrafish, Journal of the American Chemical Society 141(10): 4214-4218.
- Meel E. van, Bos E., Lienden M.J.C. van der, Overkleeft H.S., Kasteren S.I. van, Koster A.J. & Aerts J.M.F.G. (2019), Localization of Active Endogenous and Exogenous GBA by Correlative Light-Electron Microscopy in Human Fibroblasts, Traffic 20(5): 346-356.
- Mieremet A., Boiten W.A., Dijk R. van, Gooris G.S., Overkleeft H.S., Aerts J.M.F.G., Bouwstra J.A. & El Ghalbzouri A. (2019), Unravelling effects of relative humidity on lipid barrier formation in human skin equivalents, Archives of Dermatological Research 311(9): 679-689.
- Wu L., Armstrong Z., Schröder S.P., Boer C. de, Artola M., Aerts J.M.F.G., Overkleeft H.S. & Davies G.J. (2019), An overview of activity-based probes for glycosidases, Current Opinion in Chemical Biology 53: 25-36.
- Lelieveld L.T., Mirzaian M., Kuo C.L., Artola Perez de Azanza M.E., Guimaraes da Lomba Ferraz M.J., Peter R.E.A., Akiyama H., Greimel P., Berg R.J.B.H.N. van den, Overkleeft H.S., Boot R.G., Meijer A. & Aerts J.M.F.G. (2019), Role of β-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish, Journal of Lipid Research 60(11): 1851-1867.
- Moro Chao D.H., Wang Y., Foppen E., Ottenhoff R., Roomen C. van, Parlevliet E.T., Eijk M.C. van, Verhoek M., Boot R.G., Marques A.R., Scheij S., Mirzaian M., Kooijman S., Jansen K., Wang D., Mergen C., Seeley R.J., Tschöp M.H., Overkleeft H.S., Rensen P.C.N., Kalsbeek A., Aerts J.M.F.G. & Yi C.X. (2019), The iminosugar AMP-DNM improves satiety and activates brown adipose tissue through GLP1, Diabetes 68(12): 2223-2234.
- Artola M., Hedberg C., Rowland R.J., Raich L., Kytidou K., Wu L., Schaaf A., Ferraz M.J., Marel G.A. van der, Codee J.D.C., Rovira C., Aerts J.M.F.G., Davies G.J. & Overkleeft H.S. (2019), Alpha-d-Gal-cyclophellitol cyclosulfamidate is a Michaelis complex analog that stabilizes therapeutic lysosomal alpha-galactosidase A in Fabry disease, Chemical Science 10(40): 9233-9243.
- Aerts J.M.F.G., Kuo C.L., Lelieveld L.T., Boer D.E.C., Lienden M.J.C. van der, Overkleeft H.S. & Artola M. (2019), Glycosphingolipids and lysosomal storage disorders as illustrated by gaucher disease, Current Opinion in Chemical Biology 53: 204-215.
- Kuo C.L., Kallemeijn W.W., Lelieveld L.T., Mirzaian M., Zoutendijk I., Vardi A., Futerman A.H., Meijer A.H., Spaink H.P., Overkleeft H.S., Aerts J.M.F.G. & Artola Perez de Azanza M.E. (2019), In vivo inactivation of glycosidases by conduritol B epoxide and cyclophellitol as revealed by activity‐based protein profiling, FEBS Journal 286(3): 584-600.
- Wheeler S., Haberkant P., Bhardwaj M., Tongue P., Ferraz M.J., Halter D., Sprong H., Schmid R., Aerts J.M.F.G., Sullo N. & Sillence D.J. (2019), Cytosolic glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease, Neurobiology of Disease 127: 242-252.
- Liefhebber J.M.P., Zon T. van der, Paerels L., Ferraz M.J., Ottenhoff R., Zancanella V., Au B., Kuo C.L., Vries C.J.M. de, Evers M.M., Konstantinova P., Aerts J.M.F.G., Deventer S.J. van & Liu Y.P. (2019), Development of an AAV5-Based Gene Therapy for Fabry Disease. CELL PRESS. [overig].
- Cabasso O., Paul S., Dorot O., Maor G., Krivoruk O., Pasmanik-Chor M., Mirzaian M., Ferraz M.J., Aerts J.M.F.G. & Horowitz M. (2019), Drosophila melanogaster Mutated in its GBA1b Ortholog Recapitulates Neuronopathic Gaucher Disease, Journal of Clinical Medicine 8(9): 1420.
- Woeste M.A., Stern S., Raju D.N., Grahn E., Dittmann D., Gutbrod K., Dörmann P., Hansen J.N., Schonauer S., Marx C.E., Hamzeh H., Körschen H.G., Aerts J.M.F.G., Bönigk W., Endepols H., Sandhoff R., Geyer M., Berger T.K., Bradke F. & Wachten D. (2019), Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations, Journal of Biological Chemistry 294(11): 3853-3871.
- Cabasso O., Paul S., Dorot O., Maor G., Mirzaian M., Aerts J.M.F.G. & Horowitz M. (2019), The fruit fly Drosophila melanogaster as a model to study Gaucher disease, Molecular Genetics and Metabolism 126(2): S35.
- Karlsson S., Smith E., Rothe M., Ferraz M.J., Aerts J.M.F.G., Golipour A., Harpe C., Pfeifer R., Pizzurro D., Schambach A. & Mason C. (2019), A Clinical Glucocerebrosidase Lentiviral Vector Corrects the Pathology and Clinical Signs in a Mouse Model for Type 1 Gaucher Disease. CELL PRESS. [overig].
- Rakhshandehroo M., Eijkeren R.J. van, Gabriel T.L., Haar C. de, Gijzel S.M.W., Hamers N., Ferraz M.J., Aerts J.M.F.G., Schipper H.S., Eijk M.C. van, Boes M. & Kalkhoven E. (2019), Adipocytes harbor a glucosylceramide biosynthesis pathway involved in iNKT cell activation, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1864(8): 1157-1167.
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- Marques A.R.A., Aten J., Ottenhoff R., Roomen C.P.A.A. van, Moro D.H., Claessen N., Veloz M.F.V., Zhou K., Lin Z., Mirzaian M., Boot R.G., Zeeuw C.I. de, Overkleeft H.S., Yildiz Y. & Aerts J.M.F.G. (2015), Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice, PLoS ONE 10(8): e0135889.
- Brackeva B., Punt V. de, Kramer G., Costa O., Verhaeghen K., Stange G., Sadones J., Xavier C., Aerts J.M.F.G., Gorus F.K. & Martens G.A. (2015), Potential of UCHL1 as biomarker for destruction of pancreatic beta cells, Journal of Proteomics 117: 156-167.
- Jiang J., Kallemeijn W.W., Wright D.W., Nieuwendijk A.M.C.H. van den, Coco Rohde V., Folch E.C., Elst H. van den, Florea B.I., Scheij S., Donker-Koopman W.E., Verhoek M., Li N., Schürmann M., Mink D., Boot R.G., Codée J.D.C., Marel G.A. van der, Davies G.J., Aerts J.M.F.G. & Overkleeft H.S. (2015), In vitro and in vivo comparative and competitive activity-based protein profiling of GH29 alpha-L-fucosidases, Chemical Science 6(5): 2782-2789.
- Dahl M., Doyle A., Olsson K., Mansson J.E., Marques A.R.A., Mirzaian M., Aerts J.M.F.G., Ehinger M., Rothe M., Modlich U., Schambach A. & Karlsson S. (2015), Lentiviral gene therapy using cellular promoters cures type 1 Gaucher disease in mice, Molecular Therapy 23(5): 835-844.
- Berg R.J.B.H.N. van der, Rijssel E.R. van, Ferraz M.J., Houben J., Strijland A., Donker-Koopman W.E., Wennekes T., Bonger K.M., Ghisaidoobe A.B.T., Hoogendoorn S., Marel G.A. van der, Codee J.D.C., Overkleeft H.S. & Aerts J.M.F.G. (2015), Synthesis and Evaluation of Hybrid Structures Composed of Two Glucosylceramide Synthase Inhibitors, ChemMedChem 10(12): 2042-2062.
- Jebbink J.M., Boot R.G., Keijser R., Moerland P.D., Aten J., Veenboer G.J.M., Wely M. van, Buimer M., Ver Loren van Themaat E., Aerts J.M.F.G., Post J.A.M. van der, Afink G.B. & Ris-Stalpers C. (2015), Increased glucocerebrosidase expression and activity in preeclamptic placenta, Placenta 36(2): 160-169.
- Wisse P., Gold H., Mirzaian M., Guimaraes Da Lomba Ferraz M.J., Lutteke G., Berg R.J.B.H.N. van den, Elst H. van den, Lugtenburg J., Marel G.A. van der, Aerts J.M.F.G., Codee J.D.C. & Overkleeft H.S. (2015), Synthesis of a panel of carbon-13-labelled (glyco)sphingolipids, European Journal of Organic Chemistry 2015(12): 2661-2677.
- Kallemeijn W.W., Witte M.D., Voorn-Brouwer T.M., Walvoort M.T.C., Li K.Y., Codee J.D.C., Marel G.A. van der, Boot R.G., Overkleeft H.S. & Aerts J.M.F.G. (2014), A Sensitive Gel-Based Method Combining Distinct Cyclophellitol-Based Probes for the Identification of Acid/Base Residues in Human Retaining Beta-Glucosidases, Journal of Biological Chemistry 289(51): 35351-35362.
- Guimaraes da Lomba Ferraz M.J., Kallemeijn W.W., Mirzaian M., Herrera Moro D., Marques A., Wisse P., Boot R.G., Willems L.I., Overkleeft H.S. & Aerts J.M.F.G. (2014), Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1841(5): 811-825.
- Duivenvoorden B.A., Ghauharali K., Scheij S., Boot R.G., Aerts J.M.F.G., Marel G.A. van der, Overkleeft H.S. & Codee J.D.C. (2014), Design and synthesis of 4 '-O-alkyl-chitobiosyl-4-methylumbelliferone as human chitinase fluorogenic substrates, Carbohydrate Research 399: 26-37.
- Li K.Y., Jiang J., Witte M.D., Kallemeijn W.W., Donker-Koopman W.E., Boot R.G., Aerts J.M.F.G., Codee J.D.C., Marel G.A. van der & Overkleeft H.S. (2014), Exploring functional cyclophellitol analogues as human retaining beta-glucosidase inhibitors, 12(39): 7786-7791.
- Willems L.I., Beenakker T.J.M., Murray B., Scheij S., Kallemeijn W.W., Boot R.G., Verhoek M., Donker-Koopman W.E., Guimaraes da Lomba Ferraz M.J., Rijssel E.R. van, Florea B.I., Codee J.D.C., Marel G.A. van der, Aerts J.M.F.G. & Overkleeft H.S. (2014), Potent and Selective Activity-Based Probes for GH27 Human Retaining alpha-Galactosidases, Journal of the American Chemical Society 136(33): 11622-11625.
- Gaspar P., Kallemeijn W.W., Strijland A., Scheij S., Eijk M. van, Aten J., Overkleeft H.S., Balreira A., Zunke F., Schwake M., Sa Miranda M.C. & Aerts J.M.F.G. (2014), Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis, 55(1): 138-145.
- Kallemeijn W.W., Witte M.D., Wennekes T. & Aerts J.M.F.G. (2014), Mechanism-based inhibitors of Glycosidases: Design and Applications, Advances in Carbohydrate Chemistry and Biochemistry 71: 297-338.
- Martens G.A., Motte E., Kramer G., Stange G., Gaarn L.W., Hellemans K., Nielsen J.H., Aerts J.M., Ling Z. & Pipeleers D. (2014), Functional characteristics of neonatal rat beta cells with distinct markers, Journal of Molecular Endocrinology 52(1): 11-28.
- Wegdam W., Argmann C.A., Kramer G., Vissers J.P., Buist M.R., Kenter G.G., Aerts J.M.F.G., Meijer D. & Moerland P.D. (2014), Label-Free LC-MSe in Tissue and Serum Reveals Protein Networks Underlying Differences between Benign and Malignant Serous Ovarian Tumors, 9(9): e108046.
- Li K.-Y., Kallemeijn W.W., Jiang J., Walvoort M.T.C., Willems L.I., Beenakker T., Elst H. van den, Marel G.A. van der, Codée J.D.C., Aerts J.M.F.G., Florea B.I., Boot R.G., Witte M.D. & Overkleeft H.S. (2014), Rational Design of Activity-Based Retaining β-Exoglucosidase Probes. In: Waldmann H. & Janning P. (red.), Concepts and Case Studies in Chemical Biology: Wiley. 191-206.
- Tan Yun Lei, Genereux J.C., Pankow S., Aerts J.M.F.G., Yates III J.R. & Kelly J.W. (2014), ERdj3 Is an Endoplasmic Reticulum Degradation Factor for Mutant Glucocerebrosidase Variants Linked to Gaucher's Disease, Chemistry & Biology 21(8): 967-976.
- Shu L., Vivekanandan-Giri A., Pennathur S., Smid B.E., Aerts J.M.F.G., Hollak C.E.M. & Shayman J.A. (2014), Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease, Kidney International 86(1): 58-66.
- Moraitou M., Dimitriou E., Dekker N., Monopolis I., Aerts J.M.F.G. & Michelakakis H. (2014), Gaucher disease: Plasmalogen levels in relation to primary lipid abnormalities and oxidative stress, Blood Cells, Molecules and Diseases 53(1-2): 30-33.
- Rothaug M., Zunke F., Mazzulli J.R., Schweizer M., Altmeppen H., Luellmann-Rauch R., Kallemeijn W.W., Gaspar P., Aerts J.M.F.G., Glatzel M., Saftig P., Krainc D., Schwake M. & Blanz J. (2014), LIMP-2 expression is critical for beta-glucocerebrosidase activity and alpha-synuclein clearance, Proceedings of the National Academy of Sciences 111(43): 15573-15578.
- Gabriel Tanit L., Tol Marc J., Ottenhof Roelof, Van Roomen Cindy, Aten Jan, Claessen Nike, Hooibrink Berend, De Weijer Barbara, Serlie Mireille J., Argmann Carmen, Van Elsenburg Leonie, Aerts Johannes M.P.G. & Van Eijk Marco (2014), Lysosomal Stress in Obese Adipose Tissue Macrophages Contributes to MITF-Dependent Gpnmb Induction, Diabetes 63(10): 3310-3323.
- Serra-Vinardell J., Diaz L., Casas J., Grinberg D., Vilageliu L., Michelakakis H., Mavridou I., Aerts J.M.F.G., Decroocq C., Compain P. & Delgado A. (2014), Glucocerebrosidase Enhancers for Selected Gaucher Disease Genotypes by Modification of alpha-1-C-Substituted Imino-D-xylitols (DIXs) by Click Chemistry, ChemMedChem 9(8): 1744-1754.
- Dussen L. van, Hendriks E.J., Groener J.E.M., Boot R.G., Hollak C.E.M. & Aerts J.M.F.G. (2014), Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy, Journal of Inherited Metabolic Disease 37(6): 991-1001.
- Willems Lianne I., Beenakker Thomas J.M., Murray Benjamin, Gagestein Berend, Van den Elst Hans, Van Rijssel Erwin R., Codee Jeroen D.C., Kallemeijn Wouter W., Aerts Johannes M.F.G., Van der Marel Gijsbert A. & Overkleeft Herman S. (2014), Synthesis of alpha- and beta-Galactopyranose-Configured Isomers of Cyclophellitol and Cyclophellitol Aziridine, (27): 6044-6056.
- Willems Lianne I., Jiang Jianbing, Li Kah-Yee, Witte Martin D., Kallemeijn Wouter W., Beenakker Thomas J.N., Schroeder Sybrin P., Aerts Johannes M.F.G., Van der Marel Gijsbert A., Codee Jeroen D.C. & Overkleeft Hermen S. (2014), From Covalent Glycosidase Inhibitors to Activity-Based Glycosidase Probes, Chemistry: a European Journal 20(35): 10864-10872.
- Ghisaidoobe Amar T., Van den Berg Richard J.B.H.N., Butt Saleem S., Strijland Anneke, Donker-Koopman Wilma E., Scheij Saskia, Van den Nieuwendijk Adrianus M.C.H., Koomen Gerrit-Jan, Van Loevezijn Arnold, Leemhuis Mark, Wennekes Tom, Van der Stelt Mario, Van der Marel Gijsbert A., Van Boeckel Constant A.A., Aerts Johannes M.F.G. & Overkleeft Herman S. (2014), Identification and Development of Biphenyl Substituted Iminosugars as Improved Dual Glucosylceramide Synthase/Neutral Glucosylceramidase Inhibitors, Journal of Medicinal Chemistry 57(21): 9096-9104.
- Li Kah-Yee, Jiang Jianbing, Witte Martin D., Kallemeijn Wouter W., Van den Elst Hans, Wong Chung-Sing, Chander Sharina D., Hoogendoorn Sascha, Beenakker Thomas J.M., Codee Jeroen D.C., Aerts Johannes M.F.G., Van der Marel Gijs A. & Overkleeft Herman S. (2014), Synthesis of Cyclophellitol, Cyclophellitol Aziridine, and Their Tagged Derivatives, (27): 6030-6043.
- Aerts J.M.F.G., Guimaraes da Lomba Ferraz M.J., Boot R.G., Breemen M.J. van, Dekker N., Kramer G., Hollak C.E.M., Maas M., Linthorst G.E., Smid B., Rombach S.M., Dussen L. van, Poorthuis B. & Groener J.E.M. (2013), Biomarkers for lysosomal storage disorders. In: Surendran S. (red.), Neurochemistry of metabolic diseases: lysosomal storage diseases, phenylketonuria, and Canavan disease. Hauppage, NY: Nova Science Publishers. 169-202.
- Jiang L., Brackeva B., Ling Z., Kramer GJ., Aerts J.M.F.G., Schuit F., Keymeulen B., Pipeleers D., Gorus F. & Martens G.A. (2013), Potential of Protein Phosphatase Inhibitor 1 As Biomarker of Pancreatic beta-Cell Injury In Vitro and In Vivo, Diabetes 62(8): 2683-2688.
- Pavlova E.V., Wang S.Z., Archer J., Dekker N., Aerts J.M.F.G., Karlsson S. & Cox T.M. (2013), B cell lymphoma and myeloma in murine Gaucher's disease, Journal of Pathology 231(1): 88-97.
- Brands M., Raalte D.H. van, Joao Ferraz M., Sauerwein H.P., Verhoeven A.J., Aerts J.M.F.G., Diamant M. & Serlie M.J. (2013), No Difference in Glycosphingolipid Metabolism and Mitochondrial Function in Glucocorticoid-Induced Insulin Resistance in Healthy Men, Journal of Clinical Endocrinology and Metabolism 98(3): 1219-1225.
- Vlassaks E., Mencarelli C., Nikiforou M., Strackx E., Ferraz M.J., Aerts J.M.F.G., Baets M.H. de, Martinez-Martinez P. & Gavilanes A.W.D. (2013), Fetal asphyxia induces acute and persisting changes in the ceramide metabolism in rat brain, 54(7): 1825-1833.
- Dussen L. van, Zimran A., Akkerman E.M., Aerts J.M.F.G., Petakov M., Elstein D., Rosenbaum H., Aviezer D., Brill-Almon E., Chertkoff R., Maas M. & Hollak C.E.M. (2013), Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher disease, Blood Cells, Molecules and Diseases 50(3): 206-211.
- Gold H., Mirzaian M., Dekker N., Joao Ferraz M., Lugtenburg J., Codee J.D.C., Marel G.A. van der, Overkleeft H.S., Linthorst G.E., Groener J.E.M., Aerts J.M.F.G. & Poorthuis B.J.H.M. (2013), Quantification of Globotriaosylsphingosine in Plasma and Urine of Fabry Patients by Stable Isotope Ultraperformance Liquid Chromatography-Tandem Mass Spectrometry, Clinical Chemistry 59(3): 547-556.
- Ferraz M.J., Kallemeijn W.W., Mirzaian M., Herrera Moro D., Marques A., Wisse P., Boot R.G., Willems L.I., Overkleeft H.S. & Aerts J.M. (2013), Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1841(5): 811-815.
- Gold H., Mirzaian M., Dekker N., Joao Ferraz M., Lugtenburg J., Codée J.D., Van der Marel G.A., Overkleeft H.S., Linthorst G.E., Groener J.E.M., Aerts J.M. & Poorthuis B.J.H.M. (2012), Quantification of globotriaosylsphingosine in plasma and urine of Fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry, Clinical Chemistry 59(3): 547–556.
- Nieuwendijk A.M.C.H. van den, Berg R.J.B.H.N. van den, Ruben M., Witte M.D., Brussee J., Boot R.G., Marel G.A. van der, Aerts J.M.F.G. & Overkleeft H.S. (2012), Synthesis of Eight 1-Deoxynojirimycin Isomers from a Single Chiral Cyanohydrin, European Journal of Organic Chemistry 2012(18): 3437-3446.
- Lo S.M., Choi M., Liu J., Jain D., Boot R.G., Kallemeijn W.W., Aerts J.M.F.G., Pashankar F., Kupfer G.M., Mane S., Lifton R.P. & Mistry P.K. (2012), Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis, Blood 119(20): 4731-4740.
- Hollak C.E.M., Sonnaville E.S.V. de, Cassiman D., Linthorst G.E., Groener J.E., Morava E., Wevers R.A., Mannens M., Aerts J.M.F.G., Meersseman W., Akkerman E., Niezen-Koning K.E., Mulder M.F., Visser G., Wijburg F.A., Lefeber D. & Poorthuis B.J.H.M. (2012), Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients, Molecular Genetics and Metabolism 107(3): 526-533.
- Zhang C.K., Stein P.B., Liu J., Wang Z., Yang R., Cho J.H., Gregersen P.K., Aerts J.M.F.G., Zhao H., Pastores G.M. & Mistry P.K. (2012), Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation, American Journal of Hematology 87(4): 377-383.
- Nietupski J.B., Pacheco J.J., Chuang W.-L., Maratea K., Li L., Foley J., Ashe K.M., Cooper C.G.F., Aerts J.M.F.G., Copeland D.P., Scheule R.K., Cheng S.H. & Marshall J. (2012), Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann-Pick C mice, Molecular Genetics and Metabolism 105(4): 621-628.
- Wegdam W., Meijer D., Kramer G., Langridge J., Moerland P.D., Jong S.M. de, Vissers J.P., Kenter G.G., Buist M.R. & Aerts J.M.F.G. (2012), QUANTITATIVE DETECTION OF DISCRIMINATORY PROTEINS IN TISSUE AND SERUM OF OVARIAN CANCER PATIENTS BY LC-MSE, Annals of Oncology 23: 18-19.
- Biegstraaten M., Hollak C.E.M., Bakkers M., Faber C.G., Aerts J.M.F.G. & Schaik I.N. van (2012), Small fiber neuropathy in Fabry disease, Molecular Genetics and Metabolism 106(2): 135-141.
- Vrins C.L.J., Ottenhoff R., Oever K. van den, Waart D.R. de, Kruyt J.K., Zhao Y., Berkel T.J.C. van, Havekes L.M., Aerts J.M., Eck M. van, Rensen P.C.N. & Groen A.K. (2012), Trans-intestinal cholesterol efflux is not mediated through high density lipoprotein, Journal of Lipid Research 53(10): 2017-2023.
- Wegdam W., Moerland P.D., Meijer D., Jong Shreyas M. de, Hoefsloot H.C.J., Kenter G.G., Buist M.R. & Aerts J.M.F.G. (2012), A critical assessment of SELDI-TOF-MS for biomarker discovery in serum and tissue of patients with an ovarian mass, Proteome Science 10(1): 45-55.
- Lombardo E., Roomen C.P.A.A. van, Van Puijvelde G.H., Ottenhoff R., Eijk M. van, Aten J., Kuiper J., Overkleeft H.S., Groen A.K., Verhoeven A.J., Aerts J.M.F.G. & Bietrix F. (2012), Correction of Liver Steatosis by a Hydrophobic Iminosugar Modulating Glycosphingolipids Metabolism, PLoS ONE 7(10): 38520.
- Rombach S.M., Aerts J.M.F.G., Poorthuis B.J.H.M., Groener J.E.M., Donker-Koopman W., Hendriks E., Mirzaian M., Kuiper S., Wijburg F.A., Hollak C.E.M. & Linthorst G.E. (2012), Long-Term Effect of Antibodies against Infused Alpha-Galactosidase A in Fabry Disease on Plasma and Urinary (lyso)Gb3 Reduction and Treatment Outcome, PLoS ONE 7(10): e47805.
- Wennekes T., Bonger K.M., Vogel K., Van den Berg R.J.B.H.N., Strijland A., Donker-Koopman W.E., Aerts J.M.F.G., Van der Marel G.A. & Overkleeft H.S. (2012), The Development of an Aza-C-Glycoside Library Based on a Tandem Staudinger/Aza-Wittig/Ugi Three-Component Reaction, European Journal of Organic Chemistry (32): .
- Kallemeijn W.W., Li K.Y., Witte M.D., Marques A.R.A., Aten J., Scheij S., Jiang J., Willems L.I., Voorn-Brouwer T.M., Roomen C.P.A.A. van, Ottenhoff R., Boot R.G., Elst H. van den, Walvoort M.T.C., Florea B.I., Codee J.D.C., Marel G.A. van der, Aerts J.M.F.G. & Overkleeft H.S. (2012), Novel Activity-Based Probes for Broad-Spectrum Profiling of Retaining beta-Exoglucosidases In Situ and In Vivo, Angewandte Chemie (International Edition) 51(50): 12529-12533.
- Langeveld M., Berg S.A.A. van den, Bijl N., Bijland S., Roomen C.P. van, Houben-Weerts J.H., Ottenhoff R., Houten S.M., Willems van Dijk K., Romijn J.A., Groen A.K., Aerts J.M.F.G. & Voshol P.J. (2012), Treatment of genetically obese mice with the iminosugar N-(5-adamantane-1-yl-methoxy-pentyl)-deoxynojirimycin reduces body weight by decreasing food intake and increasing fat oxidation, Metabolism: Clinical and Experimental 61(1): 99-107.
- Aureli M., Bassi R., Loberto N., Regis S., Prinetti A., Chigorno V., Aerts J.M.F.G., Boot R.G., Filocamo M. & Sonnino S. (2012), Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts, Journal of Inherited Metabolic Disease 35(6): 1081-1091.
- Rombach Saskia M., Van den Bogaard Bas, De Groot Eric, Groener Johanna E.M., Poorthuis Ben J., Linthorst Gabor E., Van den Born Bert-Jan H., Hollak Carla E.M. & Aerts Johannes M.F.G. (2012), Vascular Aspects of Fabry Disease in Relation to Clinical Manifestations and Elevations in Plasma Globotriaosylsphingosine, Hypertension 60(4): 998-1005.
- Walvoort M.T.C., Kallemeijn W.W., Willems L.I., Witte M.D., Aerts J.M.F.G., Van der Marel G.A., Codee J.D.C. & Overkleeft H.S. (2012), Tuning the leaving group in 2-deoxy-2-fluoroglucoside results in improved activity-based retaining beta-glucosidase probes, Chemical Communications 48(84): .
- Dussen L. van, Cox T.M., Hendriks E.J., Morris E., Akkerman E.M., Maas M., Groener J.E.M., Aerts J.M.F.G., Deegan P.B. & Hollak C.E.M. (2012), Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes, Haematologica 87: 1850-1854.
- Dussen L. van, Lips P., Everts V.E., Bravenboer N., Jansen I.D.C., Groener J.E.M., Maas M., Blokland J.A.K., Aerts J.M.F.G. & Hollak C.E.M. (2011), Markers of Bone Turnover in Gaucher Disease: Modeling the Evolution of Bone Disease, Journal of Clinical Endocrinology and Metabolism 96(7): 2194-2205.
- Bakermans A.J., Geraedts T.R., Weeghel M. van, Denis S., Ferraz M.J., Aerts J.M.F.G., Aten J., Nicolay K., Houten S.M. & Prompers J.J. (2011), Fasting-Induced Myocardial Lipid Accumulation in Long-Chain Acyl-CoA Dehydrogenase Knockout Mice Is Accompanied by Impaired Left Ventricular Function, Circulation: Cardiovascular Imaging 4(5): 558-565.
- Bouwman M.G., Rombach S.M., Linthorst G.E., Poorthuis B.J.H.M., Deprez R.H.L., Aerts J.M.F.G. & Wijburg F.A. (2011), Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation, Clinical Genetics 80(5): 500-502.
- Biegstraaten M., Schaik I.N. van, Aerts J.M.F.G., Langeveld M., Mannens M.M.A.M., Bour L.J., Sidransky E., Tayebi N., Fitzgibbon E. & Hollak C.E.M. (2011), A monozygotic twin pair with highly discordant Gaucher phenotypes, Blood Cells, Molecules and Diseases 46(1): 39-41.
- Witte M.D., Walvoort M.T.C., Li K.Y., Kallemeijn W.W., Donker-Koopman W.E., Boot R.G., Aerts J.M.F.G., Codee J.D.C., Marel G.A. van der & Overkleeft H.S. (2011), Activity-Based Profiling of Retaining beta-Glucosidases: A Comparative Study, ChemBioChem 12(8): 1263-1269.
- Ghisaidoobe A., Bikker P., Bruijn A.C.J. de, Godschalk F.D., Rogaar E., Guijt M.C., Hagens P., Halma J.M., Hart S.M. van 't, Luitjens S.B., Rixel V.H.S. van, Wijzenbroek M., Zweegers T., Donker-Koopman W.E., Strijland A., Boot R.G., Marel G.A. van der, Overkleeft H.S., Aerts J.M.F.G. & Berg R.J.B.H.N. van den (2011), Identification of Potent and Selective Glucosylceramide Synthase Inhibitors from a Library of N-Alkylated Iminosugars, ACS Medicinal Chemistry Letters 2(2): 119-123.
- Dekker N., Dussen L. van, Hollak C.E.M., Overkleeft H., Scheij S., Ghauharali K., Breemen M.J. van, Ferraz M.J., Groener J.E.M., Maas M., Wijburg F.A., Speijer D., Tylki-Szymanska A., Mistry P.K., Boot R.G. & Aerts J.M.F.G. (2011), Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response, Blood 118(16): e118-27.
- Smid B.E., Aerts J.M.F.G., Boot R.G., Linthorst G.E. & Hollak C.E. (2011), Pharmacological small molecules for the treatment of lysosomal storage disorders, Expert Opinion on Investigational Drugs 19(11): 1367-1379.
- Dekker N., Voorn-Brouwer T., Verhoek M., Wennekes T., Narayan R.S., Speijer D., Hollak C.E.M., Overkleeft H.S., Boot R.G. & Aerts J.M.F.G. (2011), The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation, Blood Cells, Molecules and Diseases 46(1): 19-26.
- Groener J.E., Serlie M.J., Poppema A., Mirzaian M. & Aerts J.M.F.G. (2011), Ceramide in Lipid Emulsions Used in Parenteral Nutrition: An Innocent Bystander?, Journal of Parenteral and Enteral Nutrition 35(2): 270-271.
- Hollak C.E.M., Aerts J.M.F.G., Ayme S. & Manuel J. (2011), Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders, Orphanet Journal of Rare Diseases 6: 16.
- Breemen M.J. van, Rombach S.M., Dekker N., Poorthuis B.J., Linthorst G.E., Zwinderman A.H., Breunig F., Wanner C., Aerts J.M.F.G. & Hollak C.E. (2011), Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1812(1): 70-76.
- Holleboom A.G., Karlsson H., Lin R.S., Beres T.M., Sierts J.A., Herman D.S., Stroes E.S.G., Aerts J.M.F.G., Kastelein J.J.P., Motazacker M.M., Dallinga-Thie G.M., Levels J.H.M., Zwinderman A.H., Seidman J.G., Seidman C.E., Ljunggren S., Lefeber D.J., Morava E., Wevers R.A., Fritz T.A., Tabak L.A., Lindahl M., Hovingh G.K. & Kuivenhoven J.A. (2011), Heterozygosity for a Loss-of-Function Mutation in GALNT2 Improves Plasma Triglyceride Clearance in Man, Cell Metabolism 14(6): 811-818.
- Gold H., Munneke S., Dinkelaar J., Overkleeft H.S., Aerts J.M.F.G., Codee J.D.C. & Van der Marel G.A. (2011), A practical synthesis of capped 4-methylumbelliferyl hyaluronan disaccharides and tetrasaccharides as potential hyaluronidase substrates, Carbohydrate Research 346(12): .
- Timmers S., Vogel-van den Bosch J. de, Hesselink M.K.C., Beurden D. van, Schaart G., Ferraz M.J., Losen M., Martinez-Martinez P., De Baets M.H., Aerts J.M.F.G. & Schrauwen P. (2011), Paradoxical Increase in TAG and DAG Content Parallel the Insulin Sensitizing Effect of Unilateral DGAT1 Overexpression in Rat Skeletal Muscle, PLoS ONE 6(1): e14503.
- Ashe K.M., Bangari D., Li L., Cabrera-Salazar M.A., Bercury S.D., Nietupski J.B., Cooper C.G.F., Aerts J.M.F.G., Lee E.R., Copeland D.P., Cheng S.H., Scheule R.K. & Marshall J. (2011), Iminosugar-Based Inhibitors of Glucosylceramide Synthase Increase Brain Glycosphingolipids and Survival in a Mouse Model of Sandhoff Disease, PLoS ONE 6(6): e21758.
- Aerts J.M.F.G., Boot R.G., Eijk M.C. van, Groener J., Bijl N., Lombardo E., Bietrix F.M., Dekker N., Groen A.K., Ottenhoff R., Roomen C. van, Aten J., Serlie M., Langeveld M., Wennekes T. & Overkleeft H.S. (2011), Glycosphingolipids and insulin resistance. In: Cowart L.A. (red.), Sphingolipids and Metabolic Disease. Advances in Experimental Medicine and Biology nr. 721. New York, NY, U.S.A.: Springer. 20-41.
- Smid B.E., Rombach S.M., Aerts J.M.F.G., Kuiper S., Mirzaian M., Overkleeft H.S., Poorthuis B.J.H.M., Hollak C.E.M., Groener J.E.M. & Linthorst G.E. (2011), Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients, Orphanet Journal of Rare Diseases 6: .
- Berg R.J.B.H.N. van den., Elst H. van den., Korevaar C.G.N., Aerts J.M.F.G., Marel G.A. van der. & Overkleeft H.S. (2011), A Rapid and Efficient Synthesis of D-erythro-Sphingosine from D-ribo-Phytosphingosine, European Journal of Organic Chemistry 2011(33): 6685-6689.
- Berg R.J.B.H.N. van den, Wennekes T., Ghisaidoobe A., Donker-Koopman W.E., Strijland A., Boot R.G., Marel G.A. van der, Aerts J.M.F.G. & Overkleeft H.S. (2011), Assessment of Partially Deoxygenated Deoxynojirimycin Derivatives as Glucosylceramide Synthase Inhibitors, ACS Medicinal Chemistry Letters 2(7): 519-522.
- Aerts J.M.F.G., Kallemeijn W.W., Wegdam W., Joao Ferraz M., Van Breemen M.J., Dekker N., Kramer G., Poorthuis B.J., Groener J.E.M., Cox-Brinkman J., Rombach S.M., Hollak C.E.M., Linthorst G.E., Witte M.D., Gold H., Marel G.A. van der, Overkleeft H.S. & Boot R.G. (2011), Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies, Journal of Inherited Metabolic Disease 34(3): 605-619.
- Gold H., Boot R.G., Aerts J.M.F.G., Overkleeft H.S., Codee J.D.C. & Marel G.A. van der (2011), A Concise Synthesis of Globotriaosylsphingosine, European Journal of Organic Chemistry (9): 1652-1663.
- Aerts J.M.F.G., Boot R.G., Eijk M.C. van, Groener J., Bijl N., Lombardo E., Bietrix F.M., Dekker N., Groen A.K., Ottenhoff R., Roomen C. van, Aten J., Serlie M., Langeveld M., Wennekes T. & Overkleeft H.S. (2011), Glycosphingolipids and insulin resistance, Advances in Experimental Medicine and Biology 721: 99-119.
- Dekker N., Voorn-Brouwer T., Verhoek M., Wennekes T., Narayan R.S., Speijer D., Hollak C.E.M., Overkleeft H.S., Boot R.G. & Aerts J.M.F.G. (2011), The cytosolic beta-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation, Blood Cells, Molecules and Diseases 46(1): .
- Witte M.D., Van der Marel G.A., Aerts J.M.F.G. & Overkleeft H.S. (2011), Irreversible inhibitors and activity-based probes as research tools in chemical glycobiology, 9(17): .
- Linthorst G.E. & Aerts J.M.F.G. (2011), Letter concerning "Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha", by Tanaka et al, Journal of Inherited Metabolic Disease 34(1): 237-238.
- Van Scherpenzeel M., Van den Berg R.J., Donker-Koopman W.E., Liskamp R.M., Aerts J.M., Overkleeft H.S. & Pieters R.J. (2010), Nanomolar affinity, iminosugar-based chemical probes for specific labeling of lysosomal glucocerebrosidase, Bioorganic & Medicinal Chemistry 18(1): .
- Cox-Brinkman J., Bergh Weerman M.A. van den, Wijburg F.A., Aerts J.M.F.G., Florquin S., Lee J.H. van der & Hollak C.E.M. (2010), Ultrastructural Analysis of Dermal Fibroblasts in Mucopolysaccharidosis Type I: Effects of Enzyme Replacement Therapy and Hematopoietic Cell Transplantation, Ultrastructural Pathology 34(3): 126-132.
- Boomsma J.M.F., Dussen L. van, Wiersma M.G., Groener J.E.M., Aerts J.M.F.G., Maas M. & Hollak C.E.M. (2010), Spontaneous regression of disease manifestations can occur in type 1 Gaucher disease; results of a retrospective cohort study, Blood Cells, Molecules and Diseases 44(3): 181-187.
- Linthorst G.E., Bouwman M.G., Wijburg F.A., Aerts J.M.F.G., Poorthuis B.J.H.M. & Hollak C.E.M. (2010), Screening for Fabry disease in high-risk populations: a systematic review, Journal of Medical Genetics 47(4): 217-222.
- Rombach S.M., Dekker N., Bouwman M.G., Linthorst G.E., Zwinderman A.H., Wijburg F.A., Kuiper S., Weerrnan van der Berg M.A., Groener J.E.M., Poorthuis B.J., Hollak C.E.M. & Aerts J.M.F.G. (2010), Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1802(9): 741-748.
- Smid B.E., Aerts J. M.F.G., Boot R.G., Linthorst G.E. & Hollak C.E.M. (2010), Pharmacological small molecules for the treatment of lysosomal storage disorders, Expert Opinion on Investigational Drugs 19(11): 1367-1379.
- Hollak C.E.M., Aerts J.M.F.G., Belmatoug N., Bembi B., Bodamer O., Cappellini D., Collin-Histed T., Cox T., Deegan P., Giraldo P., Hughes D., Lukina E., Manuel J., Michelakakis H., Di Rocco M., Vellodi A. & Zimran A. (2010), Guidelines for the restart of imiglucerase in patients with Gaucher disease: Recommendations from the European Working Group on Gaucher disease, Blood Cells, Molecules and Diseases 44(2): 86-87.
- Hollak C.E.M., Dahl S. vom, Aerts J.M.F.G., Belmatoug N., Bembi B., Cohen Y., Collin-Histed T., Deegan P., Dussen L. van, Giraldo P., Mengel E., Michelakakis H., Manuel J., Hrebicek M., Parini R., Reinke J., Di Rocco M., Pocovi M., Sa Miranda M.C., Tylki-Szymanska A., Zimran A. & Cox T.M. (2010), Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease, Blood Cells, Molecules and Diseases 44(1): 41-47.
- Eijk M.C. van, Aust G., Brouwer M.S.M., Meurs M. van, Voerman J.S.A., Dijke I.E., Pouwels W., Saendig I., Wandel E., Aerts J.M.F.G., Boot R.G., Laman J.D. & Hamann J. (2010), Differential expression of the EGF-TM7 family members CD97 and EMR2 in lipid-laden macrophages in atherosclerosis, multiple sclerosis and Gaucher disease, Immunology Letters 129(2): 64-71.
- Eijk M.C. van, Voorn-Brouwer T., Scheij S.S., Verhoeven A.J., Boot R.G. & Aerts J.M.F.G. (2010), Curdlan-mediated regulation of human phagocyte-specific chitotriosidase, FEBS Letters 584(14): 3165-3169.
- Hulkova H., Poupetova H., Harzer K., Mistry P., Aerts J.M.F.G. & Elleder M. (2010), Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries, Journal of Inherited Metabolic Disease 33(1): 69-78.
- Wennekes T., Meijer A.J., Groen A.K., Boot R.G., Groener J.E., Eijk M.C. van, Ottenhoff R., Bijl N., Ghauharali K., Song H., O'Shea T.J., Liu H., Yew N., Copeland D., Berg R.J.B.H.N. van den, Marel G.A. van der, Overkleeft H.S. & Aerts J.M.F.G. (2010), Dual-Action Lipophilic Iminosugar Improves Glycemic Control in Obese Rodents by Reduction of Visceral Glycosphingolipids and Buffering of Carbohydrate Assimilation, Journal of Medicinal Chemistry 53(2): 689-698.
- Witte M.D., Kallemeijn W.W., Aten J., Li K.Y., Strijland A., Donker-Koopman W.E., Nieuwendijk A.M.C.H. van den, Bleijlevens B., Kramer G., Florea B.I., Hooibrink B., Hollak C.E.M., Ottenhoff R., Boot R.G., Marel G.A. van der, Overkleeft H.S. & Aerts J.M.F.G. (2010), Ultrasensitive in situ visualization of active glucocerebrosidase molecules, Nature Chemical Biology 6(12): 907-913.
- Boot R.G., Hollak C.E.M., Verhoek M., Alberts C., Jonkers R.E. & Aerts J.M.F.G. (2010), Plasma chitotriosidase and CCL18 as surrogate markers for granulomatous macrophages in sarcoidosis, Clinica Chimica Acta 411(1-2): 31-36.
- Bietrix F., Lombardo E., Roomen C.P.A.A. van, Ottenhoff R., Verhoeven A.J. & Aerts J.M.F.G. (2010), Inhibition of glycosphingolipid synthesis reverses hepatic steatosis in LDLR-/- mice, Chemistry and Physics of Lipids 163: S63-S63.
- Jennemann R., Rothermel U., Wang S., Sandhoff R., Kaden S., Out R., Berkel T.J.C. van, Aerts J.M.F.G., Ghauharali K., Sticht C. & Groene H.J. (2010), Hepatic Glycosphingolipid Deficiency and Liver Function in Mice, Hepatology 51(5): 1799-1809.
- Aerts J.M.F.G. (2010), Update on biomarkers for lysosomal sphingolipidoses, International Journal of Clinical Pharmacology and Therapeutics 48: S16-S17.
- Aerts J.M.F.G. (2010), Biomarkers for Fabry Disease. In: Elstein D., Beck M. & Altarescu G. (red.), Fabry disease. New York: Springer Verlag. 133-152.
- Lombardo E., Bietrix F.M., Van Roomen C.P.A.A., Ottenhoff R., Groen A.K. & Aerts J.M.F.G. (2010), Improvement of hyperlipidemia and atherosclerosis with lipophilic iminosugars, Chemistry and Physics of Lipids 163: S14-S14.
- Linthorst G.E., Breemen M.J. van, Rombach S.M., Dekker N., Zwinderman A.H., Breunig F., Wanner C., Aerts J.M.F.G. & Hollak C.E.M. (2010), Reduction of elevated plasma globotriaosylsphingosine following enzyme replacement therapy in patients with classic Fabry disease, Journal of Inherited Metabolic Disease 33: S133-S133.
- Wennekes T., Van den Berg R.J.B.H.N., Boltje T.J., Donker-Koopman W.E., Kuijper B., Van der Marel G.A., Strijland A., Verhagen C.P., Aerts J.M.F.G. & Overkleeft H.S. (2010), Synthesis and Evaluation of Lipophilic Aza-C-glycosides as Inhibitors of Glucosylceramide Metabolism, European Journal of Organic Chemistry (7): 1258-1283.
- Dinkelaar J., Duivenvoorden B.A., Wennekes T., Overkleeft H.S., Boot R.G., Aerts J.M.F.G., Codee J.D.C. & Van der Marel G.A. (2010), A Preparative Synthesis of Human Chitinase Fluorogenic Substrate (4'-Deoxychitobiosyl)-4-methylumbelliferone, European Journal of Organic Chemistry (13): 2565-2570.
- Nieuwendijk A.M.C.H. van, Ruben M., Engelsma S.E., Risseeuw M.D.P., Berg R.J.B.H.N. van den, Boot R.G., Aerts J.M.F.G., Brussee J., Marel G.A. van der & Overkleeft H.S. (2010), Synthesis of L-altro-1-Deoxynoprimycin, D-allo-1-Deoxynoprimycin, and D-galacto-1-Deoxynojirimycin from a Single Chiral Cyanohydrin, 12(17): 3957-3959.
- Overkleeft H.S. & Aerts J.M.F.G. (2010), Chemical biology of glucosylceramide metabolism in man, NPC Highlights 2(12): 22-25.
- Ru M.H. de, Wijburg F.A., Aerts J.M.F.G., Post E.D.M. & Hollak C.E.M. (2010), Anemie, trombocytopenie en hepatosplenomegalie: de ziekte van Gaucher, Tijdschrift voor Kindergeneeskunde 78(2): 73-77.
- Bouwman M.G., Rombach S.M., Linthorst G.E., Hollak C.E.M., Aerts J.M.F.G. & Wijburg F.A. (2010), Hevige pijnklachten aan handen en voeten bij koorts en huidafwijkingen: de ziekte van Fabry, Tijdschrift voor Kindergeneeskunde 78(2): 69-73.
- Aerts Johannes M.F.G., Yasothan Uma & Kirkpatrick Peter (2010), Velaglucerase alfa, 9(11): 837-838.
- Rombach S.M., Twickler T.B., Aerts J.M.F.G., Linthorst G.E., Wijburg F.A. & Hollak C.E.M. (2010), Vasculopathy in patients with Fabry disease: Current controversies and research directions, Molecular Genetics and Metabolism 99(2): 99-108.
- Vedder A.C., Biro E., Aerts J.M.F.G., Nieuwland R., Sturk G. & Hollak C.E.M. (2009), Plasma markers of coagulation and endothelial activation in Fabry disease: impact of renal impairment, Nephrology Dialysis Transplantation 24(10): 3074-3081.
- Bijl N., Sokolovic M., Vrins C., Langeveld M., Moerland P.D., Ottenhoff R., Roomen C.P.A.A. van, Claessen N., Boot R.G., Aten J., Groen A.K., Aerts J.M.F.G. & Eijk M.C. van (2009), Modulation of Glycosphingolipid Metabolism Significantly Improves Hepatic Insulin Sensitivity and Reverses Hepatic Steatosis in Mice, Hepatology 50(5): 1431-1441.
- Fost M. de, Langeveld M., Franssen R., Hutten B.A., Groener J.E.M., Groot E. de, Mannens M.M., Bikker H., Aerts J.M.F.G., Kastelein J.J.P. & Hollak C.E.M. (2009), Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease, Atherosclerosis 204(1): 267-272.
- Iyer A., Eijk M. van, Silva E., Hatta M., Faber W., Aerts J.M.F.G. & Das P.K. (2009), Increased chitotriosidase activity in serum of leprosy patients: Association with bacillary leprosy, Clinical Immunology 131(3): 501-509.
- Boot R.G., Breemen M.J. van, Wegdam W., Sprenger R.R., Jong S. de, Speijer D., Hollak C.E.M., Dussen L. van, Hoefsloot H.C.J., Smilde A.K., Koster C.G. de, Vissers J.P.C. & Aerts J.M.F.G. (2009), Gaucher disease: a model disorder for biomarker discovery, 6(4): 411-419.
- Hollak C.E.M., Fost M. de, Dussen L. van, Vom Dahl S. & Aerts J.M.F.G. (2009), Enzyme therapy for the treatment of type 1 Gaucher disease: clinical outcomes and dose-response relationships, Expert Opinion on Pharmacotherapy 10(16): 2641-2652.
- Bussink A.P., Verhoek M., Vreede J., Ghauharali-Van der Vlugt K., Donker-Koopman W.E., Sprenger R.R., Hollak C.E., Aerts J.M.F.G. & Boot R.G. (2009), Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates, FEBS Journal 276(19): 5678-5688.
- Ghauharali-Van der Vlugt K., Bussink A.P., Groener J.E.M., Boot R.G. & Aerts J.M.F.G. (2009), Detection of chitinase activity by 2-aminobenzoic acid labeling of chito-oligosaccharides, Analytical Biochemistry 384(1): 191-193.
- Wennekes T., Berg R.J.B.H.N. van den, Boot R.G., Marel G.A. van der, Overkleeft H.S. & Aerts J.M.F.G. (2009), Glycosphingolipids-Nature, Function, and Pharmacological Modulation, Angewandte Chemie (International Edition) 48(47): 8848-8869.
- Bijl N., Roomen C.P.A.A. van, Triantis V., Sokolovic M., Ottenhoff R., Scheij S., Eijk M. van, Boot R.G., Aerts J.M.F.G. & Groen A.K. (2009), Reduction of Glycosphingolipid Biosynthesis Stimulates Biliary Lipid Secretion In Mice, Hepatology 49(2): 637-645.
- Breemen M.J. van, Fost M. de, Maas M., Wiersma M.G., Hollak C.E.M., Poll L.W., Vom Dahl S., Boot R.G. & Aerts J.M.F.G. (2009), Different dose-dependent correction of MIP-1 beta and chitotriosidase during initial enzyme replacement therapy, Journal of Inherited Metabolic Disease 32(2): 274-279.
- Soeters M.R., Lammers N.M., Dubbelhuis P.F., Ackermans M.T., Jonkers-Schuitema C.F., Fliers E., Sauerwein H.P., Aerts J.M.F.G. & Serlie M.J. (2009), Intermittent fasting does not affect whole-body glucose, lipid, or protein metabolism, The American Journal of Clinical Nutrition 90(5): 1244-1251.
- Langeveld M. & Aerts J.M.F.G. (2009), Glycosphingolipids and insulin resistance, Progress in Lipid Research 48(3-4): 196-205.
- Wegdam W., Moerland P.D., Buist M.R., Ver Loren van Themaat E. van, Bleijlevens B., Hoefsloot H.C.J., Koster C.G. de & Aerts J.M.F.G. (2009), Classification-based comparison of pre-processing methods for interpretation of mass spectrometry generated clinical datasets, Proteome Science 7: 19.
- Zhao H., Przybylska M., Wu I.-H., Zhang J., Maniatis P., Pacheco J., Piepenhagen P., Copeland D., Arbeeny C., Shayman J.A., Aerts J.M.F.G., Jiang C., Cheng S.H. & Yew N.S. (2009), Inhibiting Glycosphingolipid Synthesis Ameliorates Hepatic Steatosis in Obese Mice, Hepatology 50(1): 85-93.
- Munster B.C. van, Breemen M.J. van, Moerland P.D., Speijer D., Rooij S.E. de, Pfrommer C.J., Levi M., Hollmann M.W., Aerts J.M.F.G., Zwinderman A.H. & Korevaar J.C. (2009), Proteomic Profiling of Plasma and Serum in Elderly Patients With Delirium, Journal of Neuropsychiatry and Clinical Neurosciences 21(3): 284-291.
- Eijk M.C. van, Aten J., Bijl N., Ottenhoff R., Roomen C.P.A.A. van, Dubbelhuis P.F., Seeman I., Ghauharali-Vlugt van der K., Overkleeft H.S., Arbeeny C., Groen A.K. & Aerts J.M.F.G. (2009), Reducing Glycosphingolipid Content in Adipose Tissue of Obese Mice Restores Insulin Sensitivity, Adipogenesis and Reduces Inflammation, PLoS ONE 4(3): e4723.
- Boot R.G., Speijer D., Bussink A.P. & Aerts J.M.F.G. (2009), The origin and genetics of human chitinases. In: Musumeci S. & Paoletti M.G. (red.), Binomium chitin-chitinase : recent issues. Hauppage, NY: Nova Science Publishers. 77-99.
- Aerts J.M.F.G. & Boot R.G. (2009), The Gaucher cell and chitotriosidase, the phagocyte chitinase. In: Musumeci S. & Paoletti M.G. (red.), Binomium Chitin-Chitinase: recent issues. Hauppage, NY: Nova Science Publishers. 113-128.
- Risseeuw M.D.P., Van den Berg R., Donker-Koopman W.E., Van der Marel G.A., Aerts J., Overhand M. & Overkleeft H.S. (2009), Synthesis and evaluation of D-gluco-pyranocyclopropyl amines as potential glucosidase inhibitors, Bioorganic and Medicinal Chemistry Letters 19(23): 6600-6603.
- Wennekes T., Van den Berg R., Bonger K.M., Donker-Koopman W.E., Ghisaidoobe A., Van der Marel G.A., Strijland A., Aerts J. & Overkleeft H.S. (2009), Synthesis and evaluation of dimeric lipophilic iminosugars as inhibitors of glucosylceramide metabolism, Tetrahedron Asymmetry 20(6-8): 836-846.
- Breemen M.J. van, Aerts J.M.F.G., Sprenger R.R. & Speijer D. (2008), Potential artefacts in proteome analysis of plasma of Gaucher patients due to protease abnormalities, Clinica Chimica Acta 396(1-2): 26-32.
- Fost M. de, Noesel C.J.M.van, Aerts J.M.F.G., Maas M., Poll R.G. & Hollak C.E.M. (2008), Persistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy, Haematologica 93(7): 1119-1120.
- Langeveld A., Fost M. de, Aerts J.M.F.G., Sauerwein H.P. & Hollak C.E.M. (2008), Overweight, insulin resistance and type II diabetes in type I Gaucher disease patients in relation to enzyme replacement therapy, Blood Cells, Molecules and Diseases 40(3): 428-432.
- Rombach S.M., Linthorst G.E., Wijburg F.A., Aerts J.M.F.G. & Hollak C.E.M. (2008), Enzyme therapy in early symptomatic adult male patients does not prevent disease progression, Journal of Inherited Metabolic Disease 31(suppl 1): 121-121.
- Bleijlevens B., Breemen M.J. van, Donker-Koopman W.E., Koster C.G. de & Aerts J.M.F.G. (2008), Detection of mutant protein in complex biological samples: Glucocerebrosidase mutations in Gaucher's disease, Analytical Biochemistry 372(1): 52-61.
- Bussink A.P., Vreede J., Aerts J.M.F.G. & Boot R.G. (2008), A single histidine residue modulates enzymatic activity in acidic mammalian chitinase, FEBS Letters 582(6): 931-935.
- Fost M. de, Out T.A., Wilde F.A. de, Tjin E.P.M., Pals S.T., Oers M.H.J. van, Boot R.G., Aerts J.F.M.G., Maas M., Dahl S. vom & Hollak C.E.M. (2008), Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature, Annals of Hematology 87(6): 439-449.
- Aerts J.M.F.G., Breemen M.J. van, Bussink A.P., Ghauharali K., Sprenger R., Boot R.G., Groener J.E., Hollak C.E., Maas M., Smit S., Hoefsloot H.C., Smildel A.K., Vissers J.P.C., Jong S. de, Speijer D. & Koster C.G. de (2008), Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease, Acta Paediatrica: Nurturing the Child 97(s457): 7-14.
- Aerts J.M.F.G., Beck M., Martin R. & Scarpa M. (2008), Seventh international symposium on lysosomal storage diseases, Acta Paediatrica: Nurturing the Child 97(s457): 1-2.
- Aerts J.M.F.G. (2008), New Developments in Biomarkers for Lysosomal Storage Disorders, Clinical Therapeutics 30(Supplement 3): S92-S93.
- Bijl N., Scheij S., Houten S., Boot R.G., Groen A.K. & Aerts J.M.F.G. (2008), The glucosylceramide synthase inhibitor N-(5-adamantane-1-yl-methoxy-pentyl)-deoxynojirimycin induces sterol regulatory element-binding protein-regulated gene expression and cholesterol synthesis in HepG2 cells, Journal of Pharmacology and Experimental Therapeutics 326(3): 849-855.
- Cox-Brinkman J., Breemen M.J. van, Maldegem B.T. van, Bour L., Donker W.E., Hollak C.E.M., Wijburg F.A. & Aerts J.M.F.G. (2008), Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III, Journal of Inherited Metabolic Disease 31(6): 745-752.
- Ghauharali-Van der Vlugt K., Langeveld M., Poppema A., Kuiper S., Hollak C.E.M., Aerts J.M.F.G. & Groener J.E.M. (2008), Prominent increase in plasma ganglioside GM3 is associated with clinical manifestations of type I Gaucher disease, Clinica Chimica Acta 389(1-2): 109-113.
- Soeters M.R., Sauerwein H.P., Dubbelhuis P.F., Groener J.E., Ackermans M.T., Fliers E., Aerts J.M.F.G. & Serlie M.J. (2008), Muscle adaptation to short-term fasting in healthy lean humans, Journal of Clinical Endocrinology and Metabolism 93(7): 2900-2903.
- Langeveld M., Ghauharali K.J.M., Sauerwein H.P., Ackermans M.T., Groener J.E.M., Hollak C.E.M., Aerts J.M.F.G. & Serlie M.J. (2008), Type I Gaucher disease, a glycosphingolipid storage disorder, is associated with insulin resistance, Journal of Clinical Endocrinology and Metabolism 93(3): 845-851.
- Vedder A.C., Breunig F., Donker-Koopman W.E., Mills K., Young E., Winchester B., Berge I.J.M. ten, Groener J.E.M., Aerts J.M.F.G., Wanner C. & Hollak C.E.M. (2008), Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3, Molecular Genetics and Metabolism 94(3): 319-325.
- Aerts J.M.F.G., Groener J.E., Kuiper S., Donker-Koopman W.E., Strijland A., Ottenhoff R., Roomen C. van, Mirzaian M., Wijburg F.A., Linthorst G.E., Vedder A.C., Rombach S.M., Cox-Brinkman J., Somerharju P., Boot R.G., Hollak C.E., Brady R.O. & Poorthuis B.J. (2008), Elevated globotriaosylsphingosine is a hallmark of Fabry disease, Proceedings of the National Academy of Sciences 105(8): 2812-2817.
- Groener J.E.M., Poorthuis B.J.H.M., Kuiper S., Hollak C.E.M. & Aerts J.M.F.G. (2008), Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: Correlations with disease severity and response to therapeutic intervention, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1781(1-2): 72-78.
- Biegstraaten M., Schaik I.N. van, Aerts J.M.F.G. & Hollak C.E.M. (2008), Neurological complications in type 1 Gaucher disease, Journal of Inherited Metabolic Disease 31: 106-106.
- Cox T.M., Aerts J.M.F.G., Belmatoug N., Cappellini M.D., Vom Dahl S., Goldblatt J., Grabowski G.A., Hollak C.E.M., Hwu P., Maas M., Martins A.M., Mistry P.K., Pastores G.M., Tylki-Szymanska A., Yee J. & Weinreb N. (2008), Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring, Journal of Inherited Metabolic Disease 31(3): 319-336.
- Hollak C.E.M., Vedder A.C., Winchester B., Aerts J.M.F.G. & Breunig F. (2008), Enzyme replacement therapy in Fabry disease: Towards a better understanding of the implications of antibody formation and dose, Molecular Genetics and Metabolism 95(4): 239-240.
- Biegstraaten M., Schaik I.N. van, Aerts J.M.F.G. & Hollak C.E.M. (2008), 'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature, Journal of Inherited Metabolic Disease 31(3): 337-349.
- Cox T.M., Platt F. & Aerts J.M.F.G. (2008), Medicinal Use of Iminosugars. In: Compain P. & Martin O. (red.), Iminosugars: from Synthesis to Therapeutic Applications: Wiley. 295-326.
- Poorthuis B.J.H.M. & Aerts J.M.F.G. (2008), Glycosphingolipids. In: Blau N., Duran M. & Gibson M.K. (red.), Laboratory Guide to the Methods in Biochemical Genetics. Berlin Heidelberg: Springer. 351-379.
- Wennekes T., Lang B., Leeman M., Marel G.A. van der, Smits E., Weber M., Wiltenburg J. van, Wolberg M., Aerts J.M.F.G. & Overkleeft H.S. (2008), Large-scale synthesis of the glucosylceramide synthase inhibitor N[5-(adamantan-1-yl-methoxy)-pentyl]-1-deoxynojirimycin, Organic Process Research & Development 12(3): 414-423.
- Wennekes T., Berg R.J.B.H.N. van den & et al (2007), Development of adamantan-1-yl-methoxy-functionalized 1-deoxynojirimycin derivates as selective inhibitors of glucosylceramide in man, Journal of Organic Chemistry (JOC) 72(4): 1088-1097.
- Bussink A.P., Swieten P.F. van & et al (2007), N-Azidoacetylmannosamine-mediated chemical tagging of gangliosides, 48(6): 1417-1421.
- Eijk M.C. van, Scheij S.S., Roomen C.P.A.A. van, Speijer D., Boot R.G. & Aerts J.M.F.G. (2007), TLR- and NOD2-dependent regulation of human phagocyte-specific chitotriosidase, FEBS Letters 581(28): 5389-5395.
- Simons P.J., Pangaart P.S. van den, Aerts J.M.F.G. & Boon L. (2007), Pro-inflammatory delipidizing cytokines reduce adiponectin secretion from human adipocytes without affecting adiponectin oligomerization, Journal of Endocrinology 192(2): 289-299.
- Hollak C.E.M., Vedder A.C., Linthorst G.E. & Aerts J.M.F.G. (2007), Novel therapeutic targets for the treatment of Fabry disease, Expert Opinion on Therapeutic Targets 11(6): 821-833.
- Fost M. de, Aerts J.M.F.G., Groener J.E.M., Maas M., Akkerman E.M., Wiersma M.G. & Hollak C.E.M. (2007), Low frequency maintenance therapy with imiglucerase in adult type I Gaucher disease: a prospective randomized controlled trial, Haematologica 92(2): 215-221.
- Langeveld M., Endert E., Wiersinga W.M., Aerts J.M.F.G. & Hollak C.E.M. (2007), Hypermetabolism in Gaucher disease type I is not associated with altered thyroid hormone levels, Journal of Inherited Metabolic Disease 30(6): 985-985.
- Groener J.E.M., Poorthuis B.J.H.M., Kuiper S., Helmond M.T.J., Hollak C.E.M. & Aerts J.M.F.G. (2007), HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma, Clinical Chemistry 53(4): 742-747.
- Cox-Brinkman J., Timmermans R.G.M., Wijburg F.A., Donker W.E., Ploeg A.T. van de, Aerts J.M.F.G. & Hollak C.E.M. (2007), Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe, Journal of Inherited Metabolic Disease 30(6): 984-984.
- Vedder A.C., Gerdes V.E.A., Poorthuis B.J.H.M., Helmond M., Trip M.D., Aerts J.M.F.G. & Hollak C.E.M. (2007), Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males, Journal of Inherited Metabolic Disease 30(6): 988-988.
- Smit S., Breemen M.J. van, Hoefsloot H.C.J., Smilde A.K., Aerts J.M.F.G. & Koster C.G. de (2007), Assessing the statistical validity of proteomics based biomarkers, Analytica Chimica Acta 592(2): 210-217.
- McEachern K.A., Fung J., Komarnitsky S., Siegel C.S., Chuang W.-L., Hutto E., Shayman J.A., Grabowski G.A., Aerts J.M.F.G., Cheng S.H., Copeland D.P. & Marshall J. (2007), A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease, Molecular Genetics and Metabolism 91(3): 259-267.
- Vissers J.P.C., Langridge J.I. & Aerts J.M.F.G. (2007), Analysis and quantification of diagnostic serum markers and protein signatures for Gaucher disease, Molecular and Cellular Proteomics 6(5): 755-766.
- Aerts J.M.F.G. & Boot R.G. (2007), Beyond the primary biochemical defect in type 1 Gaucher disease, Clinical Therapeutics 29(Supplement C): S77-S78.
- Bussink A.P., Swieten P.F. van, Ghauharali K., Scheij S., Eijk M.C. van, Wennekes T., Marel G.A. van der, Boot R.G., Aerts J.M.F.G. & Overkleeft H.S. (2007), N-Azidoacetylmannosamine-mediated chemical tagging of gangliosides, Journal of Lipid Research 48(6): 1417-1421.
- Bussink A.P., Speijer D., Aerts J.M.F.G. & Boot R.G. (2007), Evolution of mammalian chitinase (-like) members of family 18 glycosyl hydrolases, Genetics 177(2): 959-970.
- Serlie M.J., Allick G., Groener J.E., Ackermans M.T., Heijligenberg R., Voermans B.C., Aerts J.M.F.G., Meijer A.J. & Sauerwein H.P. (2007), Chronic treatment with pioglitazone does not protect obese patients with diabetes mellitus type II from free fatty acid-induced insulin resistance, Journal of Clinical Endocrinology and Metabolism 92(1): 166-171.
- Wennekes T., Berg R.J.B.H.N. van den, Donker W., Marel G.A. van der, Donker W., Marel G.A. van der, Strijland A., Aerts J.M.F.G. & Overkleeft H.S. (2007), Development of adamantan-1-yl-methoxy-functionalized 1-deoxynojirimycin derivatives as selective inhibitors of glucosylceramide metabolism in man, Journal of Organic Chemistry (JOC) 72(4): 1088-1097.
- Langeveld M., Scheij S., Dubbelhuis P., Hollak C.E.M., Sauerwein H.P., Simons P. & Aerts J.M.F.G. (2007), Very low serum adiponectin levels in patients with type 1 Gaucher disease without overt hyperglycemia, Metabolism: Clinical and Experimental 56(3): 314-319.
- Serlie M.J., Meijer A.J., Groener J.E., Duran M., Endert E., Fliers E., Aerts J.M.F.G. & Sauerwein H.P. (2007), Short-term manipulation of plasma free fatty acids does not change skeletal muscle concentrations of ceramide and glucosylceramide in lean and overweight subjects, Journal of Clinical Endocrinology and Metabolism 92(4): 1524-1529.
- Aerts J.M.F.G., Ottenhoff R., Powlson A.S., Grefhorst A., Eijk M. van, Dubbelhuis P.F., Aten J., Kuipers F., Serlie M.J., Wennekes T., Sethi J.K., O'Rahilly S. & Overkleeft H.S. (2007), Pharmacological inhibition of glucosylceramide synthase enhances insulin sensitivity, Diabetes 56(5): 1341-1349.
- Soeters M.R., Sauerwein H.P., Groener J.E., Aerts J.M.F.G., Ackermans M.T., Glatz J.F.C., Fliers E. & Serlie M.J. (2007), Gender-related differences in the metabolic response to fasting, Journal of Clinical Endocrinology and Metabolism 92(9): 3646-3652.
- Hendriks M.M.W.B., Smit S., Akkermans W.L.M.W., Reijmers T.H., Eilers P.H.C., Hoefsloot H.C.J., Rubingh C.M., Koster C.G. de, Aerts J.M.F.G. & Smilde A.K. (2007), How to distinguish healthy from diseased? Classification strategy for mass specitrometry-based clinical proteomics, Proteomics 7(20): 3672-3680.
- Elstein D., Dweck A., Attias D., Hadas-Halpern I., Zevin S., Altarescu G., Aerts J.F.M.G., Weely S. van & Zimran A. (2007), Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement, Blood 110(7): 2296-2301.
- Breemen M.J. van, Fost M. de, Voerman J.S.A., Laman J.D., Boot R.G., Maas M., Hollak C.E.M., Aerts J.M.F.G. & Rezaee F. (2007), Increased plasma macrophage inflammatory protein (MIP)-1 alpha and MIP-1 beta levels in type 1 Gaucher disease, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1772(7): 788-796.
- Hollak C.E. & Aerts J.M.F.G. (2007), Diagnosis and laboratory features. In: Futerman A. & Zimran A. (red.), Gaucher disease: CRC Press Taylor & Francis. 249-268.
- Levels J.H.M., Bleijlevens B., Rezaee F., Aerts J.M.F.G. & Meijers J.C.M. (2007), SELDI-TOF mass spectrometry of high-density lipoprotein, Proteome Science 5: 15.
- Boot R.G., Verhoek M., Donker-Koopman W., Strijland A., Marle J. van, Overkleeft H.S., Wennekes T. & Aerts J.M.F.G. (2007), Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2, Journal of Biological Chemistry 282(2): 1305-1312.
- Langeveld Miriam, Scheij Saskia, Dubbelhuis Peter, Hollak Carla E.M., Sauerwein Hans P., Simons Peter & Aerts Johannes M.F.G. (2007), Very low serum adiponectin levels in patients with type 1 Gaucher disease without overt hyperglycemia, Metabolism: Clinical and Experimental 56(3): 314-319.
- Hollak C.E.M., Fost M. de, Aerts J.M.F.G. & Dahl S. vom (2007), Low-dose versus high-dose therapy for Gaucher disease: goals and markers, Blood 109(1): 387-387.
- Schoonhoven A., Rudensky B., Elstein D., Zimran A., Hollak C.E.M., Groener J.E. & Aerts J.M.F.G. (2007), Monitoring of Gaucher patients with a novel chitotriosidase assay, Clinica Chimica Acta 381(2): 136-139.
- Wegdam W., Moerland P.D., Buist M.R., Ver Loren van Themaat E., Blijlevens B., Kate F.J.W. ten, Hoefsloot H.J.C., Richel D.G., Koster C.G. de & Aerts J.M.F.G. (2007), Proteomic patterns in blood of ovarian cancer patients, EJC Supplements 5(8): 36.
- Vedder A.C., Linthorst G.E., Breemen M.J. van, Groener J.E.M., Bemelman F.J., Strijland A., Mannens M.M.A.M., Aerts J.M.F.G. & Hollak C.E.M. (2007), The Dutch Fabry cohort: Diversity of clinical manifestations and Gb(3) levels, Journal of Inherited Metabolic Disease 30(1): 68-78.
- Vedder A.C., Linthorst G.E., Houge G., Groener J.E.M., Ormel E.E., Bouma B.J., Aerts J.M.F.G., Hirth A. & Hollak C.E.M. (2007), Treatment of Fabry disease: Outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg, Journal of Inherited Metabolic Disease 30(Supplement 1): 118-118.
- Fost M. de, Hollak C.E.M., Greener J.E.M., Aerts J.M.F.G., Maas M., Poll L.W., Wiersma M.G., Haeussinger D., Brett S., Brill N. & Dahl S. vom (2006), Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis, Blood 108(3): 830-835.
- Levels J.H.M., Bleijlevens B., Kuivenhoven J.A., Aerts J.M.F.G. & Meijers J.C. (2006), SELDI-TOF ms: A high-throughput tool for high-density lipoprotein protein fingerprinting, Atherosclerosis Supplements 7(3): 589-590.
- Vedder A.C., Cox-Brinkman J., Hollak C.E.M., Linthorst G.E., Groener J.E.M., Helmond M.T.J., Scheij S. & Aerts J.M.F.G. (2006), Plasma chitotriosidase in male Fabry patients: A marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy, Molecular Genetics and Metabolism 89(3): 239-244.
- Breemen M.J. van, Bleijlevens B., Koster C.G. de & Aerts J.M.F.G. (2006), Limitations in quantitation of the biomarker CCL 18 in Gaucher disease blood samples by surface-enhanced laser desorption/ionization time-of-flight mass spectrometry, Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics 1764(10): 1626-1632.
- Linthorst G.E., Vedder A.C., Ormel E.E., Aerts J.M.F.G. & Hollak C.E.M. (2006), Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands, Nephrology Dialysis Transplantation 21(2): 355-360.
- Boot R.G., Verhoek M., Langeveld M., Renkema G.H., Hollak C.E.M., Weening J.J., Donker-Koopman W.E., Groener J.E. & Aerts J.M.F.G. (2006), CCL18: A urinary marker of Gaucher cell burden in Gaucher patients, Journal of Inherited Metabolic Disease 29(4): 564-571.
- Aerts J.M.F.G., Hollak C.E.M., Boot R.G., Groener J.E.M. & Maas M. (2006), Substrate reduction therapy of glycosphingolipid storage disorders, Journal of Inherited Metabolic Disease 29(2-3): 449-456.
- Bussink A.P., Eijk M. van, Renkema G.H., Aerts J.M.F.G. & Boot R.G. (2006), The biology of the Gaucher cell: The cradle of human chitinases, International Review of Cytology 252: 71-128.
- Boven L.A., Meurs M. van, Zwam M. van, Wierenga-Wolf A., Hintzen R.Q., Boot R.G., Aerts J.M.F.G., Amor S., Nieuwenhuis E.E. & Laman J.D. (2006), Myelin-laden macrophages are anti-inflammatory, consistent with foam cells in multiple sclerosis, Brain 129((Part 2)): 517-526.
- Vedder A.C., Strijland A., Weerman M.A.V., Florquin S., Aerts J.M.F.G. & Hollak C.E.M. (2006), Manifestations of Fabry disease in placental tissue, Journal of Inherited Metabolic Disease 29(1): 106-111.
- Rao F.V., Houston D.R., Boot R.G., Aerts J.M.F.G., Hodkinson M., Adams D.J., Shiomi K., Omura S. & Aalten D.M.F. van (2005), Specificity and affinity of natural product cyclopentapeptide inhibitors against A. fumigatus, human, and bacterial chitinases, Chemistry & Biology 12(1): 65-76.
- Linthorst G.E., Vedder A.C., Aerts J.M.F.G. & Hollak C.E.M. (2005), Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers, Clinica Chimica Acta 353(1-2): 201-203.
- Boot R.G., Bussink A.P., Verhoek M., Boer P.A.J. de, Moorman A.F.M. & Aerts J.M.F.G. (2005), Marked differences in tissue-specific expression of chitinases in mouse and man, Journal of Histochemistry and Cytochemistry 53(10): 1283-1292.
- Schmitz M., Alfalah M., Aerts J.M.F.G., Naim H.Y. & Zimmer K.P. (2005), Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease, International Journal of Biochemistry and Cell Biology 37(11): 2310-2320.
- Aerts J.M.F.G., Hollak C.E.M., Breemen M. van, Maas M., Groener J.E.M. & Boot R.G. (2005), Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases, Acta Paediatrica: Nurturing the Child 94(s447): 43-46.
- Boot R.G., Bussink A.P. & Aerts J.M.F.G. (2005), Human acidic mammalian chitinase erroneously known as eosinophil chemotactic cytokine is not the ortholog of mouse YM1, Journal of Immunology 175(4): 2041-2042.
- Deegan P.B., Moran M.T., McFarlane I., Schofield J.P., Boot R.G., Aerts J.M.F.G. & Cox T.M. (2005), Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease, Blood Cells, Molecules and Diseases 35(2): 259-267.
- Lonser R.R., Walbridge S., Murray G.J., Aizenberg M.R., Vortmeyer A.O., Aerts J.M.F.G., Brady R.O. & Oldfield E.H. (2005), Convection perfusion of glucocerebrosidase for neuronopathic Gaucher's disease, Annals of Neurology 57(4): 542-548.
- Eijk M.C. van, Roomen C.P.A.A. van, Renkema G.H., Bussink A.P., Andrews L., Blommaart E.F.C., Sugar A., Verhoeven A.J., Boot R.G. & Aerts J.M.F.G. (2005), Characterization of human phagocyte-derived chitotriosidase, a component of innate immunity, International Immunology 17(11): 1505-1512.
- Dimitriou E., Verhoek M., Altun S., Karabatsos F., Moraitou M., Youssef J., Boot R.G., Sarafidou J., Karagiorga M., Aerts J.M.F.G. & Michelakakis H. (2005), Elevated plasma chemokine CCL18/PARC in beta-thalassemia, Blood Cells, Molecules and Diseases 35(3): 328-331.
- Brinkman J., Wijburg F.A., Hollak C.E., Groener J.E., Verhoek M., Scheij S., Aten J., Boot R.G. & Aerts J.M.F.G. (2005), Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease, Journal of Inherited Metabolic Disease 28(1): 13-20.
- Aerts J.M.F.G., Breemen M.J. van, Bussink A.P., Brinkman J., Hollak C.E.M., Langeveld M., Linthorst G.E., Vedder A.C. & Fost M. de (2005), The blood-brain barrier and treatment of lysosomal storage diseases, International Congress Series 1277: 19-31.
- Timmer M.S.M., Viciano Chumillas M., Donker-Koopman W.E., Aerts J.M.F.G., Marel G.A. van der, Overkleeft H.S. & Boom J.H. van (2005), Selective cross-metathesis of C-allyl-glycosides, Journal of Carbohydrate Chemistry 24: 335-351.
- Hollak C.E.M., Boot R.G., Poorthuis B.J.H.M. & Aerts J.M.F.G. (2005), Van gen naar ziekte; de ziekte van Gaucher, Nederlands Tijdschrift voor Geneeskunde 149: 2163-2166.
- Simons P.J., Pangaart P.S. van den, Roomen C.P.A.A. van, Aerts J.M.F.G. & Boon L. (2005), Cytokine-mediated modulation of leptin and adiponectin secretion during in vitro adipogenesis: Evidence that tumor necrosis factor-alpha- and interleukin-1 beta-treated human preadipocytes are potent leptin producers, Cytokine 32(2): 94-103.
- Elstein D., Hollak C., Aerts J.M.F.G., Weely S. van, Maas M., Cox T.M., Lachmann R.H., Hrebicek M., Platt F.M., Butters T.D., Dwek R.A. & Zimran A. (2004), Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease, Journal of Inherited Metabolic Disease 27(6): 757-766.
- Linthorst G.E., De Rie M.A., Tjiam K.H., Aerts J.M.F.G., Dingemans K.P. & Hollak C.E.M. (2004), Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion, British Journal of Dermatology 150(3): 575-577.
- Boot R.G., Verhoek M., Fost M. de, Hollak C.E.M., Maas M., Bleijlevens B., Breemen M.J. van, Meurs M. van, Boven L.A., Laman J.D., Moran M.T., Cox T.M. & Aerts J.M.F.G. (2004), Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention, Blood 103(1): 33-39.
- Linthorst G.E., Hollak C.E.M., Donker-Koopman W.E., Strijland A. & Aerts J.M.F.G. (2004), Enzyme therapy for Fabry disease: Neutralizing antibodies toward agalsidase alpha and beta, Kidney International 66(4): 1589-1595.
- Boven L.A., Meurs M. van, Boot R.G., Mehta A., Boon L., Aerts J.M.F.G. & Laman J.D. (2004), Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages, American Journal of Clinical Pathology 122(3): 359-369.
- Pastores G.M., Weinreb N.J., Aerts J.M.F.G., Andria G., Cox T.M., Giralt M., Grabowski G.A., Mistry P.K. & Tylki-Szymanska A. (2004), Therapeutic goals in the treatment of Gaucher disease, Seminars in Hematology 41(Supplement 5): 4-14.
- Moller H.J., Fost M. de, Aerts J.M.F.G., Hollak C. & Moestrup S.K. (2004), Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease, European Journal of Haematology 72(2): 135-139.
- Berg R.J.B.H.N. van den, Donker-Koopman W., Boom J.H. van, Aerts H.M.F.G. & Noort D. (2004), Design and synthesis of 2-acetamidomethyl derivatives of isofagomine as potential inhibitors of human lysosomal beta-hexosaminidases, Bioorganic & Medicinal Chemistry 12(5): 891-902.
- Shen C., Bullens D., Kasran A., Maerten P., Boon L., Aerts J.M.F.G., Assche G. van, Geboes K., Rutgeerts P. & Ceuppens J.L. (2004), Inhibition of glycolipid biosynthesis by N-(5-adamantane-1-yl-methoxy-pentyl)-deoxynojirimycin protects against the inflammatory response in hapten-induced colitis, International Immunopharmacology 4(7): 939-951.
- Cox T.M., Aerts J.M.F.G., Andria G., Beck M., Belmatoug N., Bembi B., Chertkoff R., Dahl S. vom, Elstein D., Erikson A., Giralt M., Heitner R., Hollak C., Hrebicek M., Lewis S., Mehta A., Pastores G.M., Rolfs A., Miranda M.C.S. & Zimran A. (2003), The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement, Journal of Inherited Metabolic Disease 26(6): 513-526.
- Blom D., Speijer D., Linthorst G.E., Donker-Koopman W.G., Strijland A. & Aerts J.M.F.G. (2003), Recombinant enzyme therapy for Fabry disease: Absence of editing of human alpha-galactosidase A mRNA, American Journal of Human Genetics 72(1): 23-31.
- Rao F.V., Houston D.R., Boot R.G., Aerts J.M.F.G., Sakuda S. & Aalten D.M.F. van (2003), Crystal structures of allosamidin derivatives in complex with human macrophage chitinase, Journal of Biological Chemistry 278(22): 20110-20116.
- Linthorst G.E., Hollak C.E.M., Korevaar J.C., Manen J.G. van, Aerts J.M.F.G. & Boeschoten E.W. (2003), alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease, Nephrology Dialysis Transplantation 18(8): 1581-1584.
- Aguilera B., Ghauharali-Van der Vlugt K., Helmond M.T.J., Out J.M.M., Donker-Koopman W.E., Groener J.E.M., Boot R.G., Renkema G.H., Marel G.A. van der, Boom J.H. van, Overkleeft H.S. & Aerts J.M.F.G. (2003), Transglycosidase activity of chitotriosidase - Improved enzymatic assay for the human macrophage chitinase, Journal of Biological Chemistry 278(42): 40911-40916.
- Groener J.E.M., Hollak C.E.M., Bakker H.D., Boot R.G. & Aerts J.M.F.G. (2003), Behandeling van patiënten met de ziekte van Gaucher aan de hand van chemische ziektemarkers, Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde 28: 352-355.
- Aerts J.M.F.G., Hollak C., Boot R.G. & Groener A. (2003), Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention, Philosophical Transactions of the Royal Society B: Biological Sciences 358(1433): 905-914.
- Maas M., Kuijk C. van, Stoker J., Hollak C.E.M., Akkerman E.M., Aerts J.F.M.G. & Heeten G.J. den (2003), Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to dixon quantitative chemical shift MR imaging - Initial experience, Radiology 229(2): 554-561.
- Aerts J.M.F.G., Hollak C.E.M., Boot R.G. & Groener A. (2003), Macrophages as therapeutic targets in lysosomal storage disorders. In: Gordon S. (red.), The macrophage as therapeutic target. Handbook of Experimental Pharmacology nr. 158. Berlin, Heidelberg: Springer. 193-208.
- Fost M. de, Aerts J.M.F.G. & Hollak C.E.M. (2003), Gaucher disease: from fundamental research to effective therapeutic interventions, The Netherlands Journal of Medicine 61(1): 3-8.
- Linthorst G.E., Folman C.C., Aerts J.M.F.G. & Hollak C.E.M. (2003), Blood group does not correlate with disease severity in patients with Fabry disease (alpha-galactosidase A deficiency), Blood Cells, Molecules and Diseases 31(3): 324-326.
- Aerts J.M.F.G.. Wie het kleine niet eert. [oratie].
- Heitner R., Elstein D., Aerts J.M.F.G., Weely S. van & Zimran A. (2002), Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease, Blood Cells, Molecules and Diseases 28(2): 127-133.
- Maas M., Hollak C.E.M., Akkerman E.M., Aerts J.M.F.G., Stoker J. & Heeten G.J. den (2002), Quantification of skeletal involvement in adults with type I Gaucher's disease: Fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter, American Journal of Roentgenology 179(4): 961-965.
- Heitner R., Elstein D., Aerts J.M.F.G., Weely S. van & Zimran A. (2002), Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease: Volume 28, Number 2 (2002), pages 127-133, Blood Cells, Molecules and Diseases 28(2): 301.
- Moller H.J., Aerts J.M.F.G., Gronbaek H., Peterslund N.A, Petersen P.H., Hornung N., Rejnmark .L, Jabbarpour E. & Moestrup S.K. (2002), Soluble CD163: a marker molecule for monocyte/macrophage activity in disease, Scandinavian journal of clinical and laboratory investigation 62(7): 29-33.
- Poll L.W., Koch J.A., Willers R., Aerts J.M.F.G., Scherer A., Haussinger .D., Modder U. & Dahl S. vom (2002), Correlation of bone marrow response with hematological, biochemical, and visceral responses to enzyme replacement therapy of nonneuronopathic (Type 1) Gaucher disease in 30 adult patients, Blood Cells, Molecules and Diseases 28(2): 209-220.
- Fusetti F., Moeller H. von, Houston D., Rozeboom H.J., Dijkstra B.W., Boot R.G., Aerts J.M.F.G. & Aalten D.M.F. van (2002), Structure of human chitotriosidase - Implications for specific inhibitor design and function of mammalian chitinase-like lectins, Journal of Biological Chemistry 277(28): 25537-25544.
- Aerts J.M.F.G., Beck M. & Cox T.M. (2001), Lysosomal storage diseases - Fabry disease: new insights and future perspectives, Journal of Inherited Metabolic Disease 24 (suppl 2)(2): 1-3.
- Hollak C.E.M., Maas M. & Aerts J.M.F.G. (2001), Clinically relevant therapeutic endpoints in type I Gaucher disease, Journal of Inherited Metabolic Disease 24(S2): 97-105.
- Platt F.M., Jeyakumar M., Andersson U., Priestman D.A., Dwek R.A., Butters T.D., Cox T.M., Lachmann R.H., Hollak C., Aerts J.M.F.G., Weely S. van, Hrebicek M., Moyses C., Gow I., Elstein D. & Zimran A. (2001), Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy, Journal of Inherited Metabolic Disease 24(2): 275-290.
- Boot R.G., Blommaart E.F.C., Swart E., Ghauharali-Van der Vlugt K., Bijl N., Moe C., Place A. & Aerts J.M.F.G. (2001), Identification of a novel acidic mammalian chitinase distinct from chitotriosidase, Journal of Biological Chemistry 276(9): 6770-6778.
- Hollak C., Weely S. van, Maas M. & Aerts J. (2001), Long-term effects of oral treatment of Gaucher disease with N-butyldeoxynojirmycin (OGT 918) in the Netherlands, Blood 98(11): 229A-229A.
- Hollak C., Maas M., Akkerman E., Heeten A. den & Aerts J.M.F.G. (2001), Dixon quantitative chemical shift imaging is a sensitive tool for the evaluation of bone marrow responses to individualized doses of enzyme supplementation therapy in type 1 Gaucher disease, Blood Cells, Molecules and Diseases 27(6): 1005-1012.
- Moraitou M., Weely S. van, Verhoek M., Aerts J.M.F.G., Dimitriou E. & Michelakakis H. (2001), The facile detection of 1505G -> A in Gaucher patients with different phenotypes, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1536(2-3): 97-102.
- Baumann N., Lefevre M., Turpin J.C., Fontaine B., Hosseini H., Aerts J.M.F.G. & Weely S. van (2001), Atypical course of neuropathic Gaucher's disease: follow up from early infancy until adulthood, Journal of Neurology, Neurosurgery and Psychiatry 70(1): 133-134.
- Zimran A., Hollak C., Aerts J., Weely S. van, Cox T., Lachmann R., Hrebicek M. & Elstein D. (2001), Efficacy and tolerability of N-butyldeoxynojirimycin (OGT 918) in adult patients with type 1 Gaucher disease: Long-term follow-up, Blood 98(11): 26B-26B.
- Maaswinkel-Mooij P., Hollak C., Van Eysden-Plaisier M., Prins M., Aerts H. & Poll R. (2000), The natural course of Gaucher disease in The Netherlands: Implications for monitoring of disease manifestations, Journal of Inherited Metabolic Disease 23(1): 77-82.
- Cox T., Lachmann R., Hollak C., Aerts J.M.F.G., Weely S. van, Hrebicek M., Platt F., Butters T., Dwek R., Moyses C., Gow I., Elstein D. & Zimran A. (2000), Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis, The Lancet 355(9214): 1481-1485.
- Linthorst G.E., Hollak C.E., Bosman D.K., Heymans H.S. & Aerts J.M.F.G. (2000), De ziekte van Fabry: op weg naar een behandeling, Nederlands Tijdschrift voor Natuurkunde 144: 2391-2395.
- Boot R.G., Achterberg T.A.E. van, Aken B.E. van, Renkema G.H., Jacobs M.J.H.M., Aerts J.M.F.G. & Vries C.J.M. de (1999), Strong induction of members of the chitinase family of proteins in atherosclerosis - Chitotriosidase and human cartilage gp-39 expressed in lesion macrophages, Arteriosclerosis, Thrombosis, and Vascular Biology 19(3): 687-694.
- Sluijters D.A. van, Woerkom G.M. van, Aerts J.M.F.G. & Meijer A.J. (1999), Sphingomyelinase treatment of rat hepatocytes inhibits cell-swelling-stimulated glycogen synthesis by causing cell shrinkage, European Journal of Biochemistry 266(2): 653-659.
- Lauw F.N., Velde A.A. te, Dekkers P.E.P., Speelman P., Aerts J.M.F.G., Hack C.E., Deventer S.J.H. van & Poll T. van der (1999), Activation of mononuclear cells by interleukin-12: An in vivo study in chimpanzees, Journal of Clinical Immunology 19(4): 231-238.
- Dahl S. vom, Harzer K., Rolfs A., Albrecht B., Niederau C., Vogt C., Weely S. van, Aerts J.M.F.G., Muller G. & Haussinger D. (1999), Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase-1 exon 8 splice junction mutation, Journal of Hepatology 31(4): 741-746.
- Zimmer K.P., Le Coutre P., Aerts J.M.FG., Harzer K., Fukuda M., O'Brien J.S. & Naim H.Y. (1999), Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation), Journal of Pathology 188(4): 407-414.
- Boot R.G., Renkema G.H., Verhoek M., Strijland A., Bliek J., Meulemeester T.M.A.M.O. de, Mannens M.M.A.M. & Aerts J.M.F.G. (1998), The human chitotriosidase gene - Nature of inherited enzyme deficiency, Journal of Biological Chemistry 273(40): 25680-25685.
- Overkleeft H.S., Renkema G.H., Neele J., Vianello P., Hung I.O., Strijland A., Burg A.M. van der, Koomen G.J., Pandit U.K. & Aerts J.M.F.G. (1998), Generation of specific deoxynojirimycin-type inhibitors of the non-lysosomal glucosylceramidase, Journal of Biological Chemistry 273(41): 26522-26527.
- Royen-Kerkhof A. van, Poll-The B.T., Kleijer W., Diggelen O.P. van, Aerts J.M.F.G., Hopwood J.J. & Beemer F.A. (1998), Coexistence of Gaucher disease type 1 and Joubert syndrome, Journal of Medical Genetics 35(11): 965-966.
- Renkema G.H., Boot R.G., Au F.L., Donker-Koopman W.E., Strijland A., Muijsers A.O., Hrebicek M. & Aerts J.M.F.G. (1998), Chitotriosidase, a chitinase, and the 39-kDa human cartilage glycoprotein, a chitin-binding lectin, are homologues of family 18 glycosyl hydrolases secreted by human macrophages, European Journal of Biochemistry 251(1-2): 504-509.
- Hollak C.E.M., Aerts J.M.F.G. & Oers N.H.J. van (1998), Alglucerase - Practical guidance on appropriate dosage and administration in patients with Gaucher disease, Biodrugs 9(1): 11-23.
- Aerts J.M.F.G. & Gool W.A. (1998), Inleiding over vouwziekten. In: Borst P., Everdingen J.E.E. van & Gool W.A. van (red.), Vouwfouten. Prionziekten als model. Amsterdam- Overveen: Boom-Belvedere. 26-40.
- Jong J.G.N. de, Aerts J.M.F.G., Weely S. van, Hollak C.E.M., Pelt J. van, Woerkom L.M.J. van, Liebrand-Van Sambeek M.L.F. & Wevers R.A. (1998), Oligosaccharide excretion in adult Gaucher disease, Journal of Inherited Metabolic Disease 21(1): 49-59.
- Renkema G.H., Boot R.G., Strijland A., Donker-Koopman W.E., Berg M. van den, Muijsers A.O. & Aerts J.M.F.G. (1997), Synthesis, sorting, and processing into distinct isoforms of human macrophage chitotriosidase, European Journal of Biochemistry 244(2): 279-285.
- Aerts J.M.F.G. & Hollak C.E.M. (1997), 4 Plasma and metabolic abnormalities in Gaucher's disease, Baillière's Clinical Haematology 10(4): 691-709.
- Hollak C.E.M., Maas M., Linthorst G., Oers M.H.J. van, Aerts J.M.F.G. & Borne A.E.G.K. von dem (1997), Levels of thrombopoietin (TPO) are elevated in splenectomized Gaucher Disease (GD) patients and may reflect bone marrow infiltration, Blood 90(10): 624-624.
- Hodanova K., Hrebicek M., Cervenkova M., Aerts J.M.F.G. & Zeman J. (1997), Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patients, Journal of Inherited Metabolic Disease 20(4): 611-612.
- Hollak C.E.M., Evers L., Aerts J.M.F.G. & Oers M.H.J. van (1997), Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease, Blood Cells, Molecules and Diseases 23(11): 201-212.
- Hollak C.E.M., Corssmit E.P.M., Aerts J.M.F.G., Endert E., Sauerwein H.P., Romijn J.A. & Oers M.H.J. van (1997), Differential effects of enzyme supplementation therapy on manifestations of type 1 Gaucher disease, The American Journal of Medicine 103(3): 185-191.
- Hollak C.E.M., Levi M., Berends F., Aerts J.M.F.G. & Oers M.H.J. van (1997), Coagulation abnormalities in type 1 Gaucher disease are due to low-grade activation and can be partly restored by enzyme supplementation therapy, British Journal of Haematology 96(3): 470-476.
- Pasmanik-Chor M., Madar-Shapiro L., Stein O.E., Aerts J.M.F.G., Gatt S. & Horowitz M. (1997), Expression of mutated glucocerebrosidase alleles in human cells, Human Molecular Genetics 6(6): 887-895.
- Schiffmann R., Heyes M.P., Aerts J.M., Dambrosia J.M., Patterson M.C., DeGraba T., Parker C.C., Zirzow G.C., Oliver K., Tedeschi G., Brady R.O., Barton N.W., Nagineni C., Kaneski C.R., Murray G.J., Higgins J.J., Tournay A., Banerjee T.K., Kreps C., Scott L.J.C., McKee M.A., Crutchfield K. & Frei K. (1997), Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease, Annals of Neurology 42(4): 613-621.
- Boot R.G., Hollak C.E.M., Verhoek M., Sloof P., Poorthuis B.J.H.M., Kleijer W.J., Wevers R.A., Oers M.H.J. van, Mannens M.M.A.M., Aerts J.M.F.G. & Weely S. van (1997), Glucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value, Human Mutation 10(5): 348-358.
- Fernandez-Borja M., Verwoerd D., Sanderson F., Aerts J.M.F.G., Trowsdale J., Tulp A. & Neefjes J.J. (1996), HLA-DM and MHC class II molecules co-distribute with peptidase-containing lysosomal subcompartments, International Immunology 8(5): 625-640.
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- Luiken J.J.F.P., Aerts J.M.F.G. & Meijer A.J. (1996), The role of the intralysosomal pH in the control of autophagic proteolytic flux in rat hepatocytes, European Journal of Biochemistry 235(3): 564-573.
- Bosman D.K., Hollak C.EM., Aerts J.M.F.G. & Bakker H.D. (1996), The effect of enzyme therapy in a patient with Gaucher disease type III, Journal of Inherited Metabolic Disease 19(5): 703-704.
- Bijsterbosch M.K., Donker W., Bilt H van de, Weely S. van, Berkel T.J.C. van & Aerts J.M.F.G. (1996), Quantitative analysis of the targeting of mannose-terminal glucocerebrosidase - Predominant uptake by liver endothelial cells, FEBS Journal 237(2): 344-349.
- Pasmanik-Chor M., Elroy-Stein O., Aerts J.M.F.G., Agmon V., Gatt S. & Horowitz M. (1996), Overexpression of human glucocerebrosidase containing different-sized leaders, Biochemical Journal 317: 81-88.
- Aerts J.M.F.G., Boot R.G., Renkema G.H., Weely S. van, Hollak C.E.M., Donker-Koopman W.E., Strijland A. & Verhoek M. (1996), Chitotriosidase: a human macrophage chitinase that is a marker for Gaucher disease manifestation. Muzzarelli R.A.A. (red.), Chitin Enzymology. 2nd International Symposium on Chitin Enzymology 8 mei 1996 - 11 mei 1996 nr. 2. Ancona: Atec. 3-10.
- Hollak C.E., Oers M.H. van, Maaswinkel P., Aerts J.M.F.G. & Goudsmit R. (1996), Behandeling van de ziekte van Gaucher in Nederland met enzymvervangingstherapie, Nederlands Tijdschrift voor Natuurkunde 140(19): 1011-1013.
- Hrebicek M., Zeman J., Musilova J., Hodanova K., Renkema G.H., Veprekova L., Ledvinova J., Hrebicek D., Sokolova J., Aerts J.M.F.G. & Elleder M. (1996), A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency, Virchows Archiv 429(4-5): 305-309.
- Michelakakis H., Spanou C., Kondyli A., Dimitriou .E., Weely S. van, Hollak C.E.M., Oers M.H.J. van & Aerts J.M.F.G. (1996), Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher disease, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1317(3): 219-222.
- Mikhaylova M., Wiederschain G., Mikhaylov V. & Aerts J.M.F.G. (1996), The enzymatic hydrolysis of 6-acylamino-4-methylumbelliferyl-beta-D-glucosides: Identification of a novel human acid beta-glucosidase, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1317(1): 71-79.
- Hollak C.E.M., Aerts J.M.F.G., Goudsmit R., Phoa S.S.K.S., Ek M., Weely S. van, Borne A.E.G.K. von den & Oers M.H.J. van (1995), Individualized low-dose alglucerase therapy for type-1 Gaucher's disease, Lancet 345(8963): 1474-1478.
- Renkema G.H., Boot R.G., Muijsers A.O., Donker-Koopman W.E. & Aerts J.M.F.G. (1995), Purification and characterization of human chitotriosidase, a novel member of the chitinase family of proteins, Journal of Biological Chemistry 270(5): 2198-2202.
- Aerts J.M.F.G., Boot R.G., Renkema G.H., Weely S. van, Jones S., Hollak C.E.M. & Oers M.H.J. van (1995), Molecular and biochemical abnormalities of Gaucher disease. Chitotriosidase, a newly identified biochemical marker, Seminars in Hematology 32: 10-13.
- Duursma S.A., Aerts J.M.F.G., Belmatoug N., Cox T.M., Einhorn T.A., Esplin J.A., Hollak C.E.M., Incerti C., Pastores G.M., Rademakers R.P. & Zaizov R. (1995), Management of Gaucher disease. Current status and future directions: A roundtable discussion, Seminars in Hematology 32 (suppl. 1): 45-52.
- Michelakakis H., Dimitriou E., Weely S. van, Boot R.G., Mavridou I., Verhoek M. & Aerts J.M.F.G. (1995), Characterization of glucocerebrosidase in Greek Gaucher disease patients - mutation analysis and biochemical studies, Journal of Inherited Metabolic Disease 18(5): 609-615.
- Boot R.G., Renkema G.H., Strijland A., Zonneveld A.J. van & Aerts J.M.F.G. (1995), Cloning of a cDNA Encoding Chitotriosidase, a Human Chitinase Produced by Macrophages, Journal of Biological Chemistry 270(44): 26252-26256.
- Guo Y.F., He W., Boer A.M., Wevers R.A., Bruijn A.M. de, Groener J.E.M.M., Hollak C.E.M., Aerts J.M.F.G., Galjaard H. & Diggelen O.P. van (1995), Elevated plasma chitotriosidase activity in various lysosomal storage disorders, Journal of Inherited Metabolic Disease 18(6): 717-722.
- Bijsterbosch M.K., Donker W., Bilt H. van de, Weely S. van, Berkel T.J.C. van & Aerts J.M.F.G. (1995), Mannose terminal glucoserebrosidase is cleared from the circulation by liver endothelial-cells, but not Kupffer cells, Hepatology 22(4): 1074-1074.
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- Hollak C.E.M., Aerts J.M.F.G. & Oers M.H.J. van (1993), Treatment of Gaucher disease, The New England Journal of Medicine 328(21): 1564-1568.
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- Weely S. van, Brandsma M., Strijland A., Tager J.M. & Aerts J.M.F.G. (1993), Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease, Biochimica et Biophysica Acta 1181(1): 55-62.
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- Smit N.P., Roermund C.W. van, Aerts J.M.F.G., Heikoop J.C., Berg M. van den, Pavel S. & Wanders R.J. (1993), Subcellular fractionation of cultured normal human melanocytes: new insights into the relationship of melanosomes with lysosomes and peroxisomes, Biochimica et Biophysica Acta 1181(1): 1-6.
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- Weely S. van, Van Leeuwen M.B., Jansen I.D.C., Bruijn M.A.C. de, Brouwer-Kelder E.M., Schram A.W., Clara Sa Miranda M., Barranger J.A., Petersen E.M., Goldblatt J., Stotz H., Schwarzmann G., Sandhoff K., Svennerholm L., Erikson A., Tager J.M. & Aerts J.M.F.G. (1991), Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts, Biochimica et Biophysica Acta 1096(4): 301-311.
- Rijnboutt S., Aerts J.M.F.G., Geuze H.J., Tager J.M. & Strous G.J. (1991), Mannose 6-phosphate-independent membrane association of cathepsin D, glucocerebrosidase, and sphingolipid-activating protein in HepG2 cells, Journal of Biological Chemistry 266(8): 4862-4868.
- Rijnboutt S., Kal A.J., Geuze H.J., Aerts J.M.F.G. & Strous G.J. (1991), Mannose 6-phosphate independent targeting of cathepsin D to lysosomes in HepG2 cells, Journal of Biological Chemistry 266(35): 23586-23592.
- Hollak C.E.M., Aerts J.M.F.G. & Goudsmit R. (1991), De ziekte van Gaucher; nieuwe ontwikkelingen in de behandeling van lysosomale stapelingsziekten, Nederlands Tijdschrift voor Geneeskunde 135(46): 2162-2164.
- Aerts J.M.F.G., Sá Miranda M.C., Lacerda L.W., Weely S. van, Donker-Koopman W., Brouwer-Kelder B., Jansen D.C., Leeuwen M. van, Schram A.W., Tsiapara A. & Tager J.M. (1991), The identification of type-1 Gaucher disease patients, asymptomatic cases and carriers in the Nehterlands using urine samples: an evaluation, Clinica Chimica Acta 203(2-3): 349-362.
- Ohashi T., Hong C.M., Weiler S., Tomich J.M., Aerts J.M.F.G., Tager J.M. & Barranger J.A. (1991), Characterization of Human Glucocerebrosidase from Different Mutant Alleles, Journal of Biological Chemistry 266(6): 3661-3667.
- Weely S. van, Aerts J.M.F.G., Leeuwen M.B. van, Heikoop J.C., Donker-Koopman W.E., Barranger J.A., Tager J.M. & Schram A.W. (1990), Function of oligosaccharide modification in glucocerebrosidase, a membrane-associated lysosomal hydrolase, European Journal of Biochemistry 191(3): 669-677.
- Sá Miranda M.C., Aerts J.M.F.G., Pinto R., Fontes A., Lacerda L.W., Weely S. van, Barranger J. & Tager J.M. (1990), Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients, Clinical Genetics 38(3): 218-227.
- Aerts J.M.F.G., Donker-Koopman W.E., Brul S., Weely S. van, Sa Miranda M.C., Barranger J.A., Tager J.M. & Schram A.W. (1990), Comparative study on glucocerebrosidase Iin spleens from patients with Gaucher disease, Biochemical Journal 269(1): 93-100.
- Aerts J.M.F.G., Sa Miranda M.C., Brouwer-Kelder E.M., Weely S. van, Barranger J.A. & Tager J.M. (1990), Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease, Biochimica et Biophysica Acta 1041(1): 55-63.
- Weely S. van, Aerts J.M.F.G., Leeuwen M. van, Petersen E.M., Goldblatt J., Tager J.M., Barranger J.A. & Schram A.W. (1989), Molecular properties of lysosomal glucocerebrosidase. In: Salvayre R., Douste-Blazy L. & Gatt S. (red.), Lipid Storage Disorders, Life Sciences. NATO ASI Series (Series A: Life Sciences) nr. 150. Boston, MA: Springer. 51-57.
- Sa Miranda M.C., Pinto R., Schram A.W., Tager J.M., Aerts J.M.F.G. & Barranger J.A. (1989), Heterogeneity in human acid ß-glucosidase with cellulose-acetate electrophoresis. In: Salvayre R., Douste-Blazy L. & Gatt S. (red.), Lipid Storage Disorders. NATO ASI Series (Series A: Life Sciences) nr. 150. Boston, MA: Springer. 83-88.
- Sa Miranda M.C., Aerts J.M.F.G., Pinto R.A.A., Magalhaes J.A., Barranger J.A., Tager J.M. & Schram A.W. (1988), Heterogeneity in human acid beta-glucosidase revealed by cellulose-acetate electrophoresis, Biochimica et Biophysica Acta 965(2-3): 163-168.
- Aerts J.M.F.G., Heikoop J., Weely S. van, Donker-Koopman W.E., Barranger J.A., Tager J.M. & Schram A.W. (1988), Characterization of glucocerebrosidase in peripheral blood cells and cultured blastoid cells, Experimental Cell Research 177(2): 391-398.
- Willemsen R., Dongen J.M. van, Aerts J.M.F.G., Schram A.W., Tager J.M., Goudsmit R. & Reuser A.J.J. (1988), An immunoelectron microscopic study of glucocerebrosidase in type 1 Gaucher's disease spleen, Ultrastructural Pathology 12(5): 471-478.
- Aerts J.M.F.G., Schram A.W., Strijland A., Weely S. van, Jonsson L.M., Tager J.M., Sorrell S.H., Ginns E.I., Barranger J.A. & Murray G.J. (1988), Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation, Biochimica et Biophysica Acta (BBA) - General Subjects 964(3): 303-308.
- Tager J.M., Aerts J.M.F.G., Oude Elferink R.P.J., Groen A.K., Hollemans M. & Schram A.W. (1988), Molecular pathology and therapy of Gaucher disease. In: Haussinger D. (red.), pH homeostatis, mechanisms and control. New York: Academic Press. 123-162.
- Aerts J.M.F.G., Donker-Koopman W.E., Laar C. van, Brul S., Murray G.J., Wenger D.A., Barranger J.A., Tager J.M. & Schram A.W. (1987), Relationship between the 2 immunologically distinguishable forms of glucocerebrosidase in tissue-extracts, European Journal of Biochemistry 163(3): 583-589.
- Jonsson L.M., Murray G.J., Sorrell S.H., Strijland A., Aerts J.M.F.G., Ginns E.I., Barranger J.A., Tager J.M. & Schram A.W. (1987), Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts, European Journal of Biochemistry 164(1): 171-179.
- Schram A.W., Aerts J.M.F.G., Weely S. van, Barranger J.A. & Tager J.M. (1987), Glucocerebrosidase, a membrane-associated lysosomal enzyme deficient in Gaucher disease. In: Reid E., Cook G.M.W. & Luzio J.P. (red.), Cells, Membranes, and Disease, Including Renal. Methodological Surveys in Biochemistry and Analysis nr. 17. Boston, MA: Springer. 50-57.
- Aerts J.M.F.G., Donker-Koopman W.E., Koot M., Barranger J.A., Tager J.M. & Schram A.W. (1986), Deficient activity of glucocerebrosidase in urine from patients with type 1 Gaucher disease, Clinica Chimica Acta 158(2): 155-163.
- Aerts J.M.F.G., Donker-Koopman W.E., Koot M., Murray G.J., Barranger J.A., Tager J.M. & Schram A.W. (1986), Comparison of the properties of a soluble form of glucocerebrosidase from human urine with those of the membrane-associated tissue enzyme, Biochimica et Biophysica Acta 863(1): 63-70.
- Aerts J.M.F.G., Donker-Koopman W.E., Murray G.J., Barranger J.A., Tager J.M. & Schram A.W. (1986), A procedure for the rapid purification in high-yield of human glucocerebrosidase using immunoaffinity chromatography with monoclonal antibodies, Analytical Biochemistry 154(2): 655-663.
- Aerts J.M.F.G., Brul S., Donker-Koopman W.E., Weely S. van, Murray G.J., Barranger J.A., Tager J.M. & Schram A.W. (1986), Efficient routing of glucocerebrosidase to lysosomes requires complex oligosaccharide chain formation, Biochemical and Biophysical Research Communications 141(2): 452-458.
- Aerts J.M.F.G., Donker-Koopman W.E., Koot M., Brouwer-Kelder E.M., Murray G.J., Barranger J.A., Tager J.M. & Schram A.W. (1986), Forms of glucocerebrosidase present in tissues and urine. In: Freysz L., Dreyfus H., Massarelli R. & Gatt S. (red.), Enzymes of Lipid Metabolism II. NATO ASI Series (Series A: Life Sciences) nr. 116. Boston, MA: Springer. 747-752.
- Tager J.M., Aerts J.M.F.G., Jonsson L.M.V., Murray G.J., Weely S. van, Strijland A., Ginns E.I., Reuser A.J.J., Schram A.W. & Barranger J.A. (1986), Molecular forms, biosynthesis and maturation of glucocerebrosidase, a membrane-associated lysosomal enzyme deficient in Gaucher disease. In: Freysz L., Dreyfus H., Massarelli R. & Gatt S. (red.), Enzymes of Lipid Metabolism II. NATO ASI Series (Series A: Life Sciences) nr. 116. Boston, MA: Springer. 735-745.
- Aerts J.M.F.G., Lauwers A.M. & Heinen W. (1985), Temperature-dependent lipid content and fatty acid composition of three thermophilic bacteria, Antonie van Leeuwenhoek 51(2): 155-165.
- Aerts J.M.F.G. & Schram A.W. (1985), Isolation of vacuoles from the upper epidermis of Petunia hybrida petals .1. A comparison of isolation procedures, Zeitschrift fuer Naturforschung C : A Journal of Biosciences 40(3-4): 189-195.
- Aerts J.M.F.G., Donker-Koopman W.E., Vliet M.K. van der, Jonsson L.M.V., Ginns E.I., Murray G.J., Barranger J.A., Tager J.M. & Schram A.W. (1985), The occurrence of two immunologically distinguishable β‐glucocerebrosidases in human spleen, European Journal of Biochemistry 150(3): 565-574.
- Aerts J.M.F.G. & Schram A.W. (1985), Isolation of vacuoles from the upper epidermis of petunia hybrid petals. II. Vacuolar localization of some hydrolases, Zeitschrift fuer Naturforschung C : A Journal of Biosciences 40(3-4): 196-200.
- Tager J.M., Jonsson L.V., Aerts J.M.F.G., Elferink R.P., Schram A.W., Erickson A.H. & Barranger J.A. (1984), Metabolic consequences of genetic defects in lysosomes, Biochemical Society Transactions 12(6): 902-905.
- Wintermans J.F.G.M., Besouw A. van, Bogemann G. & Aerts J.M.F.G. (1980), Galactolipid formation in chloroplast envelopes: a discussion on differences between experiments in vitro and in vivo. Mazliak P., Costes C. & Douce R. (red.), Biogenesis and Function of Plant Lipids. Symposium on Recent Advances in the Biogenesis and Function of Plant Lipids 4 juni 1980 - 7 juni 1980 nr. 6. Amsterdam: Elsevier. 49-56.