Medical Biochemistry

Publications

All journal publications

2015

P. Wisse, H. Gold, M. Mirzaian, M. J. Ferraz, G. Lutteke, R. J. B. H. N. van den Berg, H. van den Elst, J. Lugtenburg, G. A. van der Marel, J. M. F. G. Aerts, J. D. C. Codee and H. S. Overkleeft, Synthesis of a Panel of Carbon-13-Labelled (Glyco)Sphingolipids, Eur. J. Org. Chem., 2015, 2661.
P. Wisse, M. A. R. de Geus, G. Cross, A. M. C. H. van den Nieuwendijk, E. J. van Rooden, R. J. B. H. N. van den Berg, J. M. F. G. Aerts, G. A. van der Marel, J. D. C. Codee and H. S. Overkleeft, Synthesis of 6-Hydroxysphingosine and alpha-Hydroxy Ceramide Using a Cross-Metathesis Strategy, J. Org. Chem., 2015, 80, 7258.
E. V. Pavlova, J. Archer, S. Z. Wang, N. Dekker, J. M. F. G. Aerts, S. Karlsson and T. M. Cox, Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B-cell malignancy, J. Pathol., 2015, 235, 113.
C. M. J. Ouairy, M. J. Ferraz, R. G. Boot, M. P. Baggelaar, M. van der Stelt, M. Appelman, G. A. van der Marel, B. I. Florea, J. M. F. G. Aerts and H. S. Overkleeft, Development of an acid ceramidase activity-based probe, Chem. Commun., 2015, 51, 6161.
M. Mirzaian, P. Wisse, M. J. Ferraz, H. Gold, W. E. Donker-Koopman, M. Verhoek, H. S. Overkleeft, R. G. Boot, G. Kramer, N. Dekker and J. M. F. G. Aerts, Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard, Blood Cell Mol. Dis., 2015, 54, 307.
A. R. A. Marques, J. Aten, R. Ottenhoff, C. P. A. A. van Roomen, D. H. Moro, N. Claessen, M. F. V. Veloz, K. K. Zhou, Z. M. Lin, M. Mirzaian, R. G. Boot, C. I. De Zeeuw, H. S. Overkleeft, Y. Yildiz and J. M. F. G. Aerts, Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice, Plos One, 2015, 10.
G. Kramer, Y. Woolerton, J. P. van Straalen, J. P. C. Vissers, N. Dekker, J. I. Langridge, R. J. Beynon, D. Speijer, A. Sturk and J. M. F. G. Aerts, Accuracy and Reproducibility in Quantification of Plasma Protein Concentrations by Mass Spectrometry without the Use of Isotopic Standards, Plos One, 2015, 10.
J. B. Jiang, W. W. Kallemeijn, D. W. Wright, A. M. C. H. van den Nieuwendijk, V. C. Rohde, E. C. Folch, H. van den Elst, B. I. Florea, S. Scheij, W. E. Donker-Koopman, M. Verhoek, N. Li, M. Schurmann, D. Mink, R. G. Boot, J. D. C. Codee, G. A. van der Marel, G. J. Davies, J. M. F. G. Aerts and H. S. Overkleeft, In vitro and in vivo comparative and competitive activity-based protein profiling of GH29 alpha-L-fucosidases, Chem. Sci., 2015, 6, 2782.
J. B. Jiang, T. J. M. Beenakker, W. W. Kallemeijn, G. A. van der Marel, H. van den Elst, J. D. C. Codee, J. M. F. G. Aerts and H. S. Overkleeft, Comparing Cyclophellitol N-Alkyl and N-Acyl Cyclophellitol Aziridines as Activity-Based Glycosidase Probes, Chem-Eur. J., 2015, 21, 10861.
J. M. Jebbink, R. G. Boot, R. Keijser, P. D. Moerland, J. Aten, G. J. M. Veenboer, M. van Wely, M. Buimer, E. V. L. van Themaat, J. M. F. G. Aerts, J. A. M. van der Post, G. B. Afink and C. Ris-Stalpers, Increased glucocerebrosidase expression and activity in preeclamptic placenta, Placenta, 2015, 36, 160.
S. Hoogendoorn, E. D. Mock, A. Strijland, W. E. Donker-Koopman, H. van den Elst, R. J. B. H. N. van den Berg, J. M. F. G. Aerts, G. A. van der Marel and H. S. Overkleeft, ortho-Carborane-Modified N-Substituted Deoxynojirimycins, Eur. J. Org. Chem., 2015, 4437.
M. Dahl, A. Doyle, K. Olsson, J. E. Mansson, A. R. Marques, M. Mirzaian, J. M. Aerts, M. Ehinger, M. Rothe, U. Modlich, A. Schambach and S. Karlsson, Lentiviral Gene Therapy Using Cellular Promoters Cures Type 1 Gaucher Disease in Mice, Molecular therapy : the journal of the American Society of Gene Therapy, 2015.
D. H. M. Chao, W. W. Kallemeijn, A. R. A. Marques, M. Orre, R. Ottenhoff, C. van Roomen, E. Foppen, M. C. Renner, M. Moeton, M. van Eijk, R. G. Boot, W. Kamphuis, E. M. Hol, J. Aten, H. S. Overkleeft, A. Kalsbeek and J. M. F. G. Aerts, Visualization of Active Glucocerebrosidase in Rodent Brain with High Spatial Resolution following In Situ Labeling with Fluorescent Activity Based Probes, Plos One, 2015, 10.
B. Brackeva, V. De Punt, G. Kramer, O. Costa, K. Verhaeghen, G. Stangee, J. Sadones, C. Xavier, J. M. F. G. Aerts, F. K. Gorus and G. A. Martens, Potential of UCHL1 as biomarker for destruction of pancreatic beta cells, J. Proteomics, 2015, 117, 156.

2014

L. I. Willems, J. B. Jiang, K. Y. Li, M. D. Witte, W. W. Kallemeijn, T. J. N. Beenakker, S. P. Schroder, J. M. F. G. Aerts, G. A. van der Marel, J. D. C. Codee and H. S. Overkleeft, From Covalent Glycosidase Inhibitors to Activity-Based Glycosidase Probes, Chem-Eur. J., 2014, 20, 10864.
L. I. Willems, T. J. M. Beenakker, B. Murray, S. Scheij, W. W. Kallemeijn, R. G. Boot, M. Verhoek, W. E. Donker-Koopman, M. J. Ferraz, E. R. van Rijssel, B. I. Florea, J. D. C. Codee, G. A. van der Marel, J. M. F. G. Aerts and H. S. Overkleeft, Potent and Selective Activity-Based Probes for GH27 Human Retaining alpha-Galactosidases, J. Am. Chem. Soc., 2014, 136, 11622.
L. I. Willems, T. J. M. Beenakker, B. Murray, B. Gagestein, H. van den Elst, E. R. van Rijssel, J. D. C. Codee, W. W. Kallemeijn, J. M. F. G. Aerts, G. A. van der Marel and H. S. Overkleeft, Synthesis of alpha- and beta-Galactopyranose-Configured Isomers of Cyclophellitol and Cyclophellitol Aziridine, Eur. J. Org. Chem., 2014, 6044.
W. Wegdam, C. A. Argmann, G. Kramer, J. P. Vissers, M. R. Buist, G. G. Kenter, J. M. F. G. Aerts, D. Meijer and P. D. Moerland, Label-Free LC-MSe in Tissue and Serum Reveals Protein Networks Underlying Differences between Benign and Malignant Serous Ovarian Tumors, Plos One, 2014, 9.
L. van Dussen, E. J. Hendriks, J. E. M. Groener, R. G. Boot, C. E. M. Hollak and J. M. F. G. Aerts, Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy, J. Inherit. Metab. Dis., 2014, 37, 991.
Y. L. Tan, J. C. Genereux, S. Pankow, J. M. F. G. Aerts, J. R. Yates and J. W. Kelly, ERdj3 Is an Endoplasmic Reticulum Degradation Factor for Mutant Glucocerebrosidase Variants Linked to Gaucher's Disease, Chem. Biol., 2014, 21, 967.
L. M. Shu, A. Vivekanandan-Giri, S. Pennathur, B. E. Smid, J. M. F. G. Aerts, C. E. M. Hollak and J. A. Shayman, Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease, Kidney Int., 2014, 86, 58.
J. Serra-Vinardell, L. Diaz, H. Guitierrez-de Teran, G. Sanchez-Olle, J. Bujons, H. Michelakakis, I. Mavridou, J. M. F. G. Aerts, A. Delgado, D. Grinberg, L. Vilageliu and J. Casas, Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease, Int. J. Biochem. Cell B., 2014, 54, 245.
J. Serra-Vinardell, L. Diaz, J. Casas, D. Grinberg, L. Vilageliu, H. Michelakakis, I. Mavridou, J. M. F. G. Aerts, C. Decroocq, P. Compain and A. Delgado, Glucocerebrosidase Enhancers for Selected Gaucher Disease Genotypes by Modification of alpha-1-C-Substituted Imino-D-xylitols (DIXs) by Click Chemistry, Chemmedchem, 2014, 9, 1744.
M. Rothaug, F. Zunke, J. R. Mazzulli, M. Schweizer, H. Altmeppen, R. Lullmann-Rauch, W. W. Kallemeijn, P. Gaspar, J. M. Aerts, M. Glatzel, P. Saftig, D. Krainc, M. Schwake and J. Blanz, LIMP-2 expression is critical for beta-glucocerebrosidase activity and alpha-synuclein clearance, Proceedings of the National Academy of Sciences of the United States of America, 2014, 111, 15573.
M. Moraitou, E. Dimitriou, N. Dekker, I. Monopolis, J. Aerts and H. Michelakakis, Gaucher disease: Plasmalogen levels in relation to primary lipid abnormalities and oxidative stress, Blood Cell Mol. Dis., 2014, 53, 30.
G. A. Martens, E. Motte, G. Kramer, G. Stange, L. W. Gaarn, K. Hellemans, J. H. Nielsen, J. M. Aerts, Z. Ling and D. Pipeleers, Functional characteristics of neonatal rat beta cells with distinct markers, J. Mol. Endocrinol., 2014, 52, 11.
K. Y. Li, J. B. Jiang, M. D. Witte, W. W. Kallemeijn, H. van den Elst, C. S. Wong, S. D. Chander, S. Hoogendoorn, T. J. M. Beenakker, J. D. C. Codee, J. M. F. G. Aerts, G. A. van der Marel and H. S. Overkleeft, Synthesis of Cyclophellitol, Cyclophellitol Aziridine, and Their Tagged Derivatives, Eur. J. Org. Chem., 2014, 6030.
K. Y. Li, J. B. Jiang, M. D. Witte, W. W. Kallemeijn, W. E. Donker-Koopman, R. G. Boot, J. M. F. G. Aerts, J. D. C. Codee, G. A. van der Marel and H. S. Overkleeft, Exploring functional cyclophellitol analogues as human retaining beta-glucosidase inhibitors, Org. Biomol. Chem., 2014, 12, 7786.
W. W. Kallemeijn, M. D. Witte, T. Wennekes and J. M. Aerts, Mechanism-based inhibitors of glycosidases: design and applications, Advances in carbohydrate chemistry and biochemistry, 2014, 71, 297.
W. W. Kallemeijn, M. D. Witte, T. M. Voorn-Brouwer, M. T. Walvoort, K. Y. Li, J. D. Codee, G. A. van der Marel, R. G. Boot, H. S. Overkleeft and J. M. Aerts, A Sensitive Gel-based Method Combining Distinct Cyclophellitol-based Probes for the Identification of Acid/Base Residues in Human Retaining beta-Glucosidases, The Journal of biological chemistry, 2014, 289, 35351.
J. M. Jebbink, R. G. Boot, R. Keijser, P. D. Moerland, J. Aten, G. J. Veenboer, M. van Wely, M. Buimer, E. Ver Loren van Themaat, J. M. Aerts, J. A. van der Post, G. B. Afink and C. Ris-Stalpers, Increased glucocerebrosidase expression and activity in preeclamptic placenta, Placenta, 2014.
A. T. Ghisaidoobe, R. J. B. H. N. van den Berg, S. S. Butt, A. Strijland, W. E. Donker-Koopman, S. Scheij, A. M. C. H. van den Nieuwendijk, G. J. Koomen, A. van Loevezijn, M. Leemhuis, T. Wennekes, M. van der Stelt, G. A. van der Marel, C. A. A. van Boeckel, J. M. F. G. Aerts and H. S. Overkleeft, Identification and Development of Biphenyl Substituted Iminosugars as Improved Dual Glucosylceramide Synthase/Neutral Glucosylceramidase Inhibitors, J. Med. Chem., 2014, 57, 9096.
P. Gaspar, W. W. Kallemeijn, A. Strijland, S. Scheij, M. Van Eijk, J. Aten, H. S. Overkleeft, A. Balreira, F. Zunke, M. Schwake, C. S. Miranda and J. M. F. G. Aerts, Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis, J. Lipid Res., 2014, 55, 138.
T. L. Gabriel, M. J. Tol, R. Ottenhof, C. van Roomen, J. Aten, N. Claessen, B. Hooibrink, B. de Weijer, M. J. Serlie, C. Argmann, L. van Elsenburg, J. M. P. G. Aerts and M. van Eijk, Lysosomal Stress in Obese Adipose Tissue Macrophages Contributes to MITF-Dependent Gpnmb Induction, Diabetes, 2014, 63, 3310.
M. J. Ferraz, W. W. Kallemeijn, M. Mirzaian, D. H. Moro, A. Marques, P. Wisse, R. G. Boot, L. I. Willems, H. S. Overkleeft and J. M. Aerts, Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses, Bba-Mol. Cell Biol. L., 2014, 1841, 811.
B. A. Duivenvoorden, K. Ghauharali, S. Scheij, R. G. Boot, J. M. F. G. Aerts, G. A. van der Marel, H. S. Overkleeft and J. D. C. Codee, Design and synthesis of 4 '-O-alkyl-chitobiosyl-4-methylumbelliferone as human chitinase fluorogenic substrates, Carbohydr. Res., 2014, 399, 26.

2013

E. Vlassaks, C. Mencarelli, M. Nikiforou, E. Strackx, M. J. Ferraz, J. M. Aerts, M. H. De Baets, P. Martinez-Martinez and A. W. D. Gavilanes, Fetal asphyxia induces acute and persisting changes in the ceramide metabolism in rat brain, J. Lipid Res., 2013, 54, 1825.
L. van Dussen, A. Zimran, E. M. Akkerman, J. M. F. G. Aerts, M. Petakov, D. Elstein, H. Rosenbaum, D. Aviezer, E. Brill-Almon, R. Chertkoff, M. Maas and C. E. M. Hollak, Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher disease, Blood Cell Mol. Dis., 2013, 50, 206.
E. V. Pavlova, S. Z. Wang, J. Archer, N. Dekker, J. M. F. G. Aerts, S. Karlsson and T. M. Cox, B cell lymphoma and myeloma in murine Gaucher's disease, J. Pathol., 2013, 231, 88.
L. Jiang, B. Brackeva, Z. D. Ling, G. Kramer, J. M. Aerts, F. Schuit, B. Keymeulen, D. Pipeleers, F. Gorus and G. A. Martens, Potential of Protein Phosphatase Inhibitor 1 As Biomarker of Pancreatic beta-Cell Injury In Vitro and In Vivo, Diabetes, 2013, 62, 2683.
H. Gold, M. Mirzaian, N. Dekker, M. J. Ferraz, J. Lugtenburg, J. D. C. Codee, G. A. van der Marel, H. S. Overkleeft, G. E. Linthorst, J. E. M. Groener, J. M. Aerts and B. J. H. M. Poorthuis, Quantification of Globotriaosylsphingosine in Plasma and Urine of Fabry Patients by Stable Isotope Ultraperformance Liquid Chromatography-Tandem Mass Spectrometry, Clin. Chem., 2013, 59, 547.
M. Brands, D. H. van Raalte, M. J. Ferraz, H. P. Sauerwein, A. J. Verhoeven, J. M. F. G. Aerts, M. Diamant and M. J. Serlie, No Difference in Glycosphingolipid Metabolism and Mitochondrial Function in Glucocorticoid-Induced Insulin Resistance in Healthy Men, J. Clin. Endocr. Metab., 2013, 98, 1219.

2012

C. K. Zhang, P. B. Stein, J. Liu, Z. H. Wang, R. H. Yang, J. H. Cho, P. K. Gregersen, J. M. F. G. Aerts, H. Y. Zhao, G. M. Pastores and P. K. Mistry, Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation, Am. J. Hematol., 2012, 87, 377.
T. Wennekes, K. M. Bonger, K. Vogel, R. J. B. H. N. van den Berg, A. Strijland, W. E. Donker-Koopman, J. M. F. G. Aerts, G. A. van der Marel and H. S. Overkleeft, The Development of an Aza-C-Glycoside Library Based on a Tandem Staudinger/Aza-Wittig/Ugi Three-Component Reaction, Eur. J. Org. Chem., 2012, 6420.
W. Wegdam, P. D. Moerland, D. Meijer, S. M. de Jong, H. C. J. Hoefsloot, G. G. Kenter, M. R. Buist and J. M. F. G. Aerts, A critical assessment of SELDI-TOF-MS for biomarker discovery in serum and tissue of patients with an ovarian mass, Proteome Sci, 2012, 10.
M. T. C. Walvoort, W. W. Kallemeijn, L. I. Willems, M. D. Witte, J. M. F. G. Aerts, G. A. van der Marel, J. D. C. Codee and H. S. Overkleeft, Tuning the leaving group in 2-deoxy-2-fluoroglucoside results in improved activity-based retaining beta-glucosidase probes, Chem. Commun., 2012, 48, 10386.
C. L. J. Vrins, R. Ottenhoff, K. van den Oever, D. R. de Waart, J. K. Kruyt, Y. Zhao, T. J. C. van Berkel, L. M. Havekes, J. M. Aerts, M. van Eck, P. C. N. Rensen and A. K. Groen, Trans-intestinal cholesterol efflux is not mediated through high density lipoprotein, J. Lipid Res., 2012, 53, 2017.
C. L. J. Vrins, F. Bietrix, E. Lombardo, C. P. P. A. van Roomen, R. Ottenhoff, H. S. Overkleeft and J. M. Aerts, Glycosphingolipid synthesis inhibitor AMP-DNM lowers plasma cholesterol levels by promoting fecal cholesterol excretion without inhibiting cholesterol absorption, Clin. Lipidol., 2012, 7, 241.
L. van Dussen, T. M. Cox, E. J. Hendriks, E. Morris, E. M. Akkerman, M. Maas, J. E. M. Groener, J. M. F. G. Aerts, P. B. Deegan and C. E. M. Hollak, Effects of switching from a reduced imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes, Haematol-Hematol J, 2012, 97, 1850.
A. M. C. H. van den Nieuwendijk, R. J. B. H. N. van den Berg, M. Ruben, M. D. Witte, J. Brussee, R. G. Boot, G. A. van der Marel, J. M. F. G. Aerts and H. S. Overkleeft, Synthesis of Eight 1-Deoxynojirimycin Isomers from a Single Chiral Cyanohydrin, Eur. J. Org. Chem., 2012, 3437.
S. M. Rombach, B. van den Bogaard, E. de Groot, J. E. M. Groener, B. J. Poorthuis, G. E. Linthorst, B. J. H. van den Born, C. E. M. Hollak and J. M. F. G. Aerts, Vascular Aspects of Fabry Disease in Relation to Clinical Manifestations and Elevations in Plasma Globotriaosylsphingosine, Hypertension, 2012, 60, 998.
S. M. Rombach, J. M. F. G. Aerts, B. J. H. M. Poorthuis, J. E. M. Groener, W. Donker-Koopman, E. Hendriks, M. Mirzaian, S. Kuiper, F. A. Wijburg, C. E. M. Hollak and G. E. Linthorst, 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, 2012, 7.
J. B. Nietupski, J. J. Pacheco, W. L. Chuang, K. Maratea, L. Y. Li, J. Foley, K. M. Ashe, C. G. F. Cooper, J. M. F. G. Aerts, D. P. Copeland, R. K. Scheule, S. H. Cheng and J. Marshall, Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann-Pick C mice, Mol. Genet. Metab., 2012, 105, 621.
E. Lombardo, C. P. A. A. van Roomen, G. H. van Puijvelde, R. Ottenhoff, M. van Eijk, J. Aten, J. Kuiper, H. S. Overkleeft, A. K. Groen, A. J. Verhoeven, J. M. F. G. Aerts and F. Bietrix, Correction of Liver Steatosis by a Hydrophobic Iminosugar Modulating Glycosphingolipids Metabolism, Plos One, 2012, 7.
S. M. Lo, M. Choi, J. Liu, D. Jain, R. G. Boot, W. W. Kallemeijn, J. M. F. G. Aerts, F. Pashankar, G. M. Kupfer, S. Mane, R. P. Lifton and P. K. Mistry, Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis, Blood, 2012, 119, 4731.
M. Langeveld, S. A. A. van den Berg, N. Bijl, S. Bijland, C. P. van Roomen, J. H. Houben-Weerts, R. Ottenhoff, S. M. Houten, K. W. van Dijk, J. A. Romijn, A. K. Groen, J. M. Aerts and P. J. Voshol, 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, 2012, 61, 99.
W. W. Kallemeijn, K. Y. Li, M. D. Witte, A. R. A. Marques, J. Aten, S. Scheij, J. B. Jiang, L. I. Willems, T. M. Voorn-Brouwer, C. P. A. A. van Roomen, R. Ottenhoff, R. G. Boot, H. van den Elst, M. T. C. Walvoort, B. I. Florea, J. D. C. Codee, G. A. van der Marel, J. M. F. G. Aerts and H. S. Overkleeft, Novel Activity-Based Probes for Broad-Spectrum Profiling of Retaining beta-Exoglucosidases In Situ and In Vivo, Angewandte Chemie-International Edition, 2012, 51, 12529.
C. E. M. Hollak, E. S. V. de Sonnaville, D. Cassiman, G. E. Linthorst, J. E. Groener, E. Morava, R. A. Wevers, M. Mannens, J. M. F. G. Aerts, W. Meersseman, E. Akkerman, K. E. Niezen-Koning, M. F. Mulder, G. Visser, A. Wijburg, D. Lefeber and B. J. H. M. Poorthuis, Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients, Mol. Genet. Metab., 2012, 107, 526.
M. Biegstraaten, C. E. M. Hollak, M. Bakkers, C. G. Faber, J. M. F. G. Aerts and I. N. van Schaik, Small fiber neuropathy in Fabry disease, Mol Genet Metab, 2012, 106, 135.
M. Aureli, R. Bassi, N. Loberto, S. Regis, A. Prinetti, V. Chigorno, J. M. Aerts, R. G. Boot, M. Filocamo and S. Sonnino, Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts, J. Inherit. Metab. Dis., 2012, 35, 1081.

2011

M. D. Witte, M. T. C. Walvoort, K. Y. Li, W. W. Kallemeijn, W. E. Donker-Koopman, R. G. Boot, J. M. F. G. Aerts, J. D. C. Codee, G. A. van der Marel and H. S. Overkleeft, Activity-Based Profiling of Retaining beta-Glucosidases: A Comparative Study, Chembiochem, 2011, 12, 1263.
M. D. Witte, G. A. van der Marel, J. M. F. G. Aerts and H. S. Overkleeft, Irreversible inhibitors and activity-based probes as research tools in chemical glycobiology, Org. Biomol. Chem., 2011, 9, 5908.
L. van Dussen, P. Lips, V. E. Everts, N. Bravenboer, I. D. C. Jansen, J. E. M. Groener, M. Maas, J. A. K. Blokland, J. M. F. G. Aerts and C. E. M. Hollak, Markers of Bone Turnover in Gaucher Disease: Modeling the Evolution of Bone Disease, J. Clin. Endocr. Metab., 2011, 96, 2194.
R. J. B. H. N. van den Berg, T. Wennekes, A. Ghisaidoobe, W. E. Donker-Koopman, A. Strijland, R. G. Boot, G. A. van der Marel, J. M. F. G. Aerts and H. S. Overkleeft, Assessment of Partially Deoxygenated Deoxynojirimycin Derivatives as Glucosylceramide Synthase Inhibitors, Acs Med. Chem. Lett., 2011, 2, 519.
R. J. B. H. N. van den Berg, H. van den Elst, C. G. N. Korevaar, J. M. F. G. Aerts, G. A. van der Marel and H. S. Overkleeft, A Rapid and Efficient Synthesis of D-erythro-Sphingosine from D-ribo-Phytosphingosine, Eur. J. Org. Chem., 2011, 6685.
M. J. van Breemen, S. M. Rombach, N. Dekker, B. J. Poorthuis, G. E. Linthorst, A. H. Zwinderman, F. Breunig, C. Wanner, J. M. Aerts and C. E. Hollak, Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy, Bba-Mol. Basis Dis., 2011, 1812, 70.
S. Timmers, J. de Vogel-van den Bosch, M. K. C. Hesselink, D. van Beurden, G. Schaart, M. J. Ferraz, M. Losen, P. Martinez-Martinez, M. H. De Baets, J. M. F. G. Aerts and P. Schrauwen, Paradoxical Increase in TAG and DAG Content Parallel the Insulin Sensitizing Effect of Unilateral DGAT1 Overexpression in Rat Skeletal Muscle, Plos One, 2011, 6.
B. E. Smid, S. M. Rombach, J. M. F. G. Aerts, S. Kuiper, M. Mirzaian, H. S. Overkleeft, B. J. H. M. Poorthuis, C. E. M. Hollak, J. E. M. Groener and G. E. Linthorst, Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients, Orphanet J. Rare. Dis., 2011, 6.
G. E. Linthorst and J. M. F. G. Aerts, 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., J. Inherit. Metab. Dis., 2011, 34, 237.
A. G. Holleboom, H. Karlsson, R. S. Lin, T. M. Beres, J. A. Sierts, D. S. Herman, E. S. G. Stroes, J. M. Aerts, J. J. P. Kastelein, M. M. Motazacker, G. M. Dallinga-Thie, J. H. M. Levels, A. H. Zwinderman, J. G. Seidman, C. E. Seidman, S. Ljunggren, D. J. Lefeber, E. Morava, R. A. Wevers, T. A. Fritz, L. A. Tabak, M. Lindahl, G. K. Hovingh and J. A. Kuivenhoven, Heterozygosity for a Loss-of-Function Mutation in GALNT2 Improves Plasma Triglyceride Clearance in Man, Cell Metab., 2011, 14, 811.
C. E. M. Hollak, J. M. F. G. Aerts, S. Ayme and J. Manuel, Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders, Orphanet J. Rare Dis., 2011, 6.
H. Gold, S. Munneke, J. Dinkelaar, H. S. Overkleeft, J. M. F. G. Aerts, J. D. C. Codee and G. A. van der Marel, A practical synthesis of capped 4-methylumbelliferyl hyaluronan disaccharides and tetrasaccharides as potential hyaluronidase substrates, Carbohydr. Res., 2011, 346, 1467.
H. Gold, R. G. Boot, J. M. F. G. Aerts, H. S. Overkleeft, J. D. C. Codee and G. A. van der Marel, A Concise Synthesis of Globotriaosylsphingosine, Eur. J. Org. Chem., 2011, 1652.
A. Ghisaidoobe, P. Bikker, A. C. J. de Bruijn, F. D. Godschalk, E. Rogaar, M. C. Guijt, P. Hagens, J. M. Halma, S. M. van't Hart, S. B. Luitjens, V. H. S. van Rixel, M. Wijzenbroek, T. Zweegers, W. E. Donker-Koopman, A. Strijland, R. Boot, G. van der Marel, H. S. Overkleeft, J. M. F. G. Aerts and R. J. B. H. N. van den Berg, Identification of Potent and Selective Glucosylceramide Synthase Inhibitors from a Library of N-Alkylated Iminosugars, Acs Med. Chem. Lett., 2011, 2, 119.
N. Dekker, T. Voorn-Brouwer, M. Verhoek, T. Wennekes, R. S. Narayan, D. Speijer, C. E. M. Hollak, H. S. Overkleeft, R. G. Boot and J. M. F. G. Aerts, The cytosolic beta-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation, Blood Cell Mol. Dis., 2011, 46, 19.
M. G. Bouwman, S. M. Rombach, G. E. Linthorst, B. J. H. M. Poorthuis, R. H. L. Deprez, J. M. F. G. Aerts and F. A. Wijburg, Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation, Clin Genet, 2011, 80, 500.
M. Biegstraaten, I. N. van Schaik, J. M. F. G. Aerts, M. Langeveld, M. M. A. M. Mannens, L. J. Bour, E. Sidransky, N. Tayebi, E. Fitzgibbon and C. E. M. Hollak, A monozygotic twin pair with highly discordant Gaucher phenotypes, Blood Cell Mol Dis, 2011, 46, 39.
A. J. Bakermans, T. R. Geraedts, M. van Weeghel, S. Denis, M. J. Ferraz, J. M. F. G. Aerts, J. Aten, K. Nicolay, S. M. Houten and J. J. Prompers, Fasting-Induced Myocardial Lipid Accumulation in Long-Chain Acyl-CoA Dehydrogenase Knockout Mice Is Accompanied by Impaired Left Ventricular Function, Circ-Cardiovasc Imag, 2011, 4, 558.
K. M. Ashe, D. Bangari, L. Y. Li, M. A. Cabrera-Salazar, S. D. Bercury, J. B. Nietupski, C. G. F. Cooper, J. M. F. G. Aerts, E. R. Lee, D. P. Copeland, S. H. Cheng, R. K. Scheule and J. Marshall, Iminosugar-Based Inhibitors of Glucosylceramide Synthase Increase Brain Glycosphingolipids and Survival in a Mouse Model of Sandhoff Disease, Plos One, 2011, 6.
J. M. F. G. Aerts, W. W. Kallemeijn, W. Wegdam, M. J. Ferraz, M. J. van Breemen, N. Dekker, G. Kramer, B. J. Poorthuis, J. E. M. Groener, J. Cox-Brinkman, S. M. Rombach, C. E. M. Hollak, G. E. Linthorst, M. D. Witte, H. Gold, G. A. van der Marel, H. S. Overkleeft and R. G. Boot, Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies, J. Inherit. Metab. Dis., 2011, 34, 605.
J. M. Aerts, R. G. Boot, M. van Eijk, J. Groener, N. Bijl, E. Lombardo, F. M. Bietrix, N. Dekker, A. K. Groen, R. Ottenhoff, C. van Roomen, J. Aten, M. Serlie, M. Langeveld, T. Wennekes and H. S. Overkleeft, Glycosphingolipids and Insulin Resistance, Adv. Exp. Med. Biol., 2011, 721, 99.

2010

M. D. Witte, W. W. Kallemeijn, J. Aten, K. Y. Li, A. Strijland, W. E. Donker-Koopman, A. M. C. H. van den Nieuwendijk, B. Bleijlevens, G. Kramer, B. I. Florea, B. Hooibrink, C. E. M. Hollak, R. Ottenhoff, R. G. Boot, G. A. van der Marel, H. S. Overkleeft and J. M. F. G. Aerts, Ultrasensitive in situ visualization of active glucocerebrosidase molecules, Nat. Chem. Biol., 2010, 6, 907.
T. Wennekes, R. J. B. H. N. van den Berg, T. J. Boltje, W. E. Donker-Koopman, B. Kuijper, G. A. van der Marel, A. Strijland, C. P. Verhagen, J. M. F. G. Aerts and H. S. Overkleeft, Synthesis and Evaluation of Lipophilic Aza-C-glycosides as Inhibitors of Glucosylceramide Metabolism, Eur. J. Org. Chem., 2010, 1258.
T. Wennekes, A. J. Meijer, A. K. Groen, R. G. Boot, J. E. Groener, M. van Eijk, R. Ottenhoff, N. Bijl, K. Ghauharali, H. Song, T. J. O'Shea, H. L. Liu, N. Yew, D. Copeland, R. J. van den Berg, G. A. van der Marel, H. S. Overkleeft and J. M. Aerts, Dual-Action Lipophilic Iminosugar Improves Glycemic Control in Obese Rodents by Reduction of Visceral Glycosphingolipids and Buffering of Carbohydrate Assimilation, J. Med. Chem, 2010, 53, 689.
M. van Scherpenzeel, R. J. B. H. N. van den Berg, W. E. Donker-Koopman, R. M. J. Liskamp, J. M. F. G. Aerts, H. S. Overkleeft and R. J. Pieters, Nanomolar affinity, iminosugar-based chemical probes for specific labeling of lysosomal glucocerebrosidase, Biorg. Med. Chem., 2010, 18, 267.
M. van Eijk, T. Voorn-Brouwer, S. S. Scheij, A. J. Verhoeven, R. G. Boot and J. M. F. G. Aerts, Curdlan-mediated regulation of human phagocyte-specific chitotriosidase, FEBS Lett., 2010, 584, 3165.
M. van Eijk, G. Aust, M. S. M. Brouwer, M. van Meurs, J. S. A. Voerman, I. E. Dijke, W. Pouwels, I. Sandig, E. Wandel, J. M. F. G. Aerts, R. G. Boot, J. D. Laman and J. Hamann, Differential expression of the EGF-TM7 family members CD97 and EMR2 in lipid-laden macrophages in atherosclerosis, multiple sclerosis and Gaucher disease, Immunol Lett, 2010, 129, 64.
A. M. C. H. van den Nieuwendijk, M. Ruben, S. E. Engelsma, M. D. P. Risseeuw, R. J. B. H. N. van den Berg, R. G. Boot, J. M. Aerts, J. Brussee, G. A. van der Marel and H. S. Overkleeft, Synthesis of L-altro-1-Deoxynoprimycin, D-allo-1-Deoxynoprimycin, and D-galacto-1-Deoxynojirimycin from a Single Chiral Cyanohydrin, Org Lett, 2010, 12, 3957.
B. E. Smid, J. M. F. G. Aerts, R. G. Boot, G. E. Linthorst and C. E. M. Hollak, Pharmacological small molecules for the treatment of lysosomal storage disorders, Expert Opin. Inv. Drug, 2010, 19, 1367.
S. M. Rombach, T. B. Twickler, J. M. F. G. Aerts, G. E. Linthorst, F. A. Wijburg and C. E. M. Hollak, Vasculopathy in patients with Fabry disease: Current controversies and research directions, Mol. Genet. Metab., 2010, 99, 99.
S. M. Rombach, N. Dekker, M. G. Bouwman, G. E. Linthorst, A. H. Zwinderman, F. A. Wijburg, S. Kuiper, M. A. V. Weerrnan, J. E. M. Groener, B. J. Poorthuis, C. E. M. Hollak and J. M. F. G. Aerts, Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease, Bba-Mol. Basis Dis., 2010, 1802, 741.
G. E. Linthorst, M. G. Bouwman, F. A. Wijburg, J. M. F. G. Aerts, B. J. H. M. Poorthuis and C. E. M. Hollak, Screening for Fabry disease in high-risk populations: a systematic review, J Med Genet, 2010, 47, 217.
R. Jennemann, U. Rothermel, S. J. Wang, R. Sandhoff, S. Kaden, R. Out, T. J. van Berkel, J. M. Aerts, K. Ghauharali, C. Sticht and H. J. Grone, Hepatic Glycosphingolipid Deficiency and Liver Function in Mice, Hepatology, 2010, 51, 1799.
H. Hulkova, H. Poupetova, K. Harzer, P. Mistry, J. M. F. G. Aerts and M. Elleder, Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries, J. Inherit. Metab. Dis., 2010, 33, 69.
C. E. M. Hollak, S. vom Dahl, J. M. F. G. Aerts, N. Belmatoug, B. Bembi, Y. Cohen, T. Collin-Histed, P. Deegan, L. van Dussen, P. Giraldo, E. Mengel, H. Michelakakis, J. Manuel, M. Hrebicek, R. Parini, J. Reinke, M. di Rocco, M. Pocovi, M. C. S. Miranda, A. Tylki-Szymanska, A. Zimran and T. M. Cox, Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease, Blood Cell Mol. Dis., 2010, 44, 41.
C. E. M. Hollak, J. M. F. G. Aerts, N. Belmatoug, B. Bembi, O. Bodamer, D. Cappellini, T. Collin-Histed, T. Cox, P. Deegan, P. Giraldo, D. Hughes, E. Lukina, J. Manuel, H. Michelakakis, M. Di Rocco, A. Vellodi and A. Zimran, Guidelines for the restart of imiglucerase in patients with Gaucher disease: Recommendations from the European Working Group on Gaucher disease, Blood Cell Mol. Dis., 2010, 44, 86.
J. Dinkelaar, B. A. Duivenvoorden, T. Wennekes, H. S. Overkleeft, R. G. Boot, J. M. F. G. Aerts, J. D. C. Codee and G. A. van der Marel, A Preparative Synthesis of Human Chitinase Fluorogenic Substrate (4'-Deoxychitobiosyl)-4-methylumbelliferone, Eur. J. Org. Chem., 2010, 2565.
M. H. de Ru, F. A. Wijburg, J. M. F. G. Aerts, E. D. M. Post and C. E. M. Hollak, Anemie, trombocytopenie en hepatosplenomegalie: de ziekte van Gaucher., Tijdschrift voor Kindergeneeskunde, 2010, 78, 73.
J. Cox-Brinkman, M. A. V. Weerman, F. A. Wijburg, J. M. F. G. Aerts, S. Florquin, J. H. van der Lee and C. E. M. Hollak, Ultrastructural Analysis of Dermal Fibroblasts in Mucopolysaccharidosis Type I: Effects of Enzyme Replacement Therapy and Hematopoietic Cell Transplantation, Ultrastruct. Pathol., 2010, 34, 126.
M. G. Bouwman, S. M. Rombach, G. E. Linthorst, C. E. M. Hollak, J. M. F. G. Aerts and F. A. Wijburg, Hevige pijnklachten aan handen en voeten bij koorts en huidafwijkingen: de ziekte van Fabry., Tijdschrift voor Kindergeneeskunde, 2010, 78, 69.
R. G. Boot, C. E. M. Hollak, M. Verhoek, C. Alberts, R. E. Jonkers and J. M. Aerts, Plasma chitotriosidase and CCL18 as surrogate markers for granulomatous macrophages in sarcoidosis, Clin. Chim. Acta, 2010, 411, 31.
J. M. F. Boomsma, L. van Dussen, M. G. Wiersma, J. E. M. Groener, J. M. F. G. Aerts, M. Maas and C. E. M. Hollak, Spontaneous regression of disease manifestations can occur in type 1 Gaucher disease; results of a retrospective cohort study, Blood Cell Mol. Dis., 2010, 44, 181.
F. Bietrix, E. Lombardo, C. P. A. A. van Roomen, R. Ottenhoff, M. Vos, P. C. N. Rensen, A. J. Verhoeven, J. M. Aerts and A. K. Groen, Inhibition of Glycosphingolipid Synthesis Induces a Profound Reduction of Plasma Cholesterol and Inhibits Atherosclerosis Development in APOE*3 Leiden and Low-Density Lipoprotein Receptor-/- Mice, Arterioscl. Throm. Vas., 2010, 30, 931.
J. M. F. G. Aerts, U. Yasothan and P. Kirkpatrick, Velaglucerase alfa, Nat. Rev. Drug Discov., 2010, 9, 837.
J. M. Aerts, Update on biomarkers for lysosomal sphingolipidoses, Int. J. Clin. Pharm. Th., 2010, 48, S16.

2009

H. M. Zhao, M. Przybylska, I. H. Wu, J. H. Zhang, P. Maniatis, J. Pacheco, P. Piepenhagen, D. Copeland, C. Arbeeny, J. A. Shayman, J. M. Aerts, C. W. Jiang, S. H. Cheng and N. S. Yew, Inhibiting Glycosphingolipid Synthesis Ameliorates Hepatic Steatosis in Obese Mice, Hepatology, 2009, 50, 85.
T. Wennekes, R. J. B. H. N. van den Berg, R. G. Boot, G. A. van der Marel, H. S. Overkleeft and J. M. F. G. Aerts, Glycosphingolipids-Nature, Function, and Pharmacological Modulation, Angewandte Chemie-Int. Ed., 2009, 48, 8848.
T. Wennekes, R. J. B. H. N. van den Berg, K. M. Bonger, W. E. Donker-Koopman, A. Ghisaidoobe, G. A. van der Marel, A. Strijland, J. M. F. G. Aerts and H. S. Overkleeft, Synthesis and evaluation of dimeric lipophilic iminosugars as inhibitors of glucosylceramide metabolism, Tetrahedron-Asymmetr, 2009, 20, 836.
W. Wegdam, P. D. Moerland, M. R. Buist, E. V. L. van Themaat, B. Bleijlevens, H. C. J. Hoefsloot, C. G. de Koster and J. M. F. G. Aerts, Classification-based comparison of pre-processing methods for interpretation of mass spectrometry generated clinical datasets, Proteome Sci., 2009, 7.
A. C. Vedder, E. Biro, J. M. F. G. Aerts, R. Nieuwland, G. Sturk and C. E. M. Hollak, Plasma markers of coagulation and endothelial activation in Fabry disease: impact of renal impairment, Nephrol. Dial. Transpl., 2009, 24, 3074.
B. C. van Munster, M. J. van Breemen, P. D. Moerland, D. Speijer, S. E. De Rooij, C. J. Pfrommer, M. Levi, M. W. Hollmann, J. M. Aerts, A. H. Zwinderman and J. C. Korevaar, Proteomic Profiling of Plasma and Serum in Elderly Patients With Delirium, J. Neuropsych. Clin. N., 2009, 21, 284.
M. van Eijk, J. Aten, N. Bijl, R. Ottenhoff, C. P. A. A. van Roomen, P. F. Dubbelhuis, I. Seeman, K. Ghauharali-van der Vlugt, H. S. Overkleeft, C. Arbeeny, A. K. Groen and J. M. F. G. Aerts, Reducing Glycosphingolipid Content in Adipose Tissue of Obese Mice Restores Insulin Sensitivity, Adipogenesis and Reduces Inflammation, Plos One, 2009, 4.
M. J. van Breemen, M. de Fost, M. Maas, M. G. Wiersma, C. E. M. Hollak, L. W. Poll, S. vom Dahl, R. G. Boot and J. M. F. G. Aerts, Different dose-dependent correction of MIP-1 beta and chitotriosidase during initial enzyme replacement therapy, J. Inherit. Metab. Dis., 2009, 32, 274.
M. R. Soeters, N. M. Lammers, P. F. Dubbelhuis, M. T. Ackermans, C. F. Jonkers-Schuitema, E. Fliers, H. P. Sauerwein, J. M. Aerts and M. J. Serlie, Intermittent fasting does not affect whole-body glucose, lipid, or protein metabolism, Am. J. Clin. Nutr., 2009, 90, 1244.
M. D. P. Risseeuw, R. J. B. H. N. van den Berg, W. E. Donker-Koopman, G. A. van der Marel, J. M. F. G. Aerts, M. Overhand and H. S. Overkleeft, Synthesis and evaluation of D-gluco-pyranocyclopropyl amines as potential glucosidase inhibitors, Bioorg. Med. Chem. Lett., 2009, 19, 6600.
M. Langeveld and J. M. F. G. Aerts, Glycosphingolipids and insulin resistance, Prog. Lipid Res., 2009, 48, 196.
A. Iyer, M. van Eijk, E. Silva, M. Hatta, W. Faber, J. M. F. G. Aerts and P. K. Das, Increased chitotriosidase activity in serum of leprosy patients: Association with bacillary leprosy, Clin. Immunol., 2009, 131, 501.
C. E. M. Hollak, M. de Fost, L. van Dussen, S. vom Dahl and J. M. F. G. Aerts, Enzyme therapy for the treatment of type 1 Gaucher disease: clinical outcomes and dose-response relationships, Expert Opin. Pharmaco., 2009, 10, 2641.
K. Ghauharali-van der Vlugt, A. P. Bussink, J. E. M. Groener, R. G. Boot and J. M. F. G. Aerts, Detection of chitinase activity by 2-aminobenzoic acid labeling of chito-oligosaccharides, Anal. Biochem., 2009, 384, 191.
M. de Fost, M. Langeveld, R. Franssen, B. A. Hutten, J. E. M. Groener, E. de Groot, M. M. Mannens, H. Bikker, J. M. F. G. Aerts, J. J. P. Kastelein and C. E. M. Hollak, Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease, Atherosclerosis, 2009, 204, 267.
A. P. Bussink, M. Verhoek, J. Vreede, K. Ghauharali-van der Vlugt, W. E. Donker-Koopman, R. R. Sprenger, C. E. Hollak, J. M. F. G. Aerts and R. G. Boot, Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates, Febs J, 2009, 276, 5678.
R. G. Boot, M. J. van Breemen, W. Wegdam, R. R. Sprenger, S. de Jong, D. Speijer, C. E. M. Hollak, L. van Dussen, H. C. J. Hoefsloot, A. K. Smilde, C. G. de Koster, J. P. C. Vissers and J. M. F. G. Aerts, Gaucher disease: a model disorder for biomarker discovery, Expert Rev. Proteomic., 2009, 6, 411.
N. Bijl, C. P. A. A. van Roomen, V. Triantis, M. Sokolovic, R. Ottenhoff, S. Scheij, M. van Eijk, R. G. Boot, J. M. Aerts and A. K. Groen, Reduction of Glycosphingolipid Biosynthesis Stimulates Biliary Lipid Secretion In Mice, Hepatology, 2009, 49, 637.
N. Bijl, M. Sokolovic, C. Vrins, M. Langeveld, P. D. Moerland, R. Ottenhoff, C. P. A. A. van Roomen, N. Claessen, R. G. Boot, J. Aten, A. K. Groen, J. M. F. G. Aerts and M. van Eijk, Modulation of Glycosphingolipid Metabolism Significantly Improves Hepatic Insulin Sensitivity and Reverses Hepatic Steatosis in Mice, Hepatology, 2009, 50, 1431.

2008

T. Wennekes, B. Lang, M. Leeman, G. A. van der Marel, E. Smits, M. Weber, J. van Wiltenburg, M. Wolberg, J. M. F. G. Aerts and H. S. Overkleeft, Large-scale synthesis of the glucosylceramide synthase inhibitor N[5-(adamantan-1-yl-methoxy)-pentyl]-1-deoxynojirimycin, Org. Process Res. Dev., 2008, 12, 414.
K. G. V. D. Vlugt, M. Langeveld, A. Poppema, S. Kuiper, C. E. M. Hollak, J. M. Aerts and J. E. M. Groener, Prominent increase in plasma ganglioside GM3 is associated with clinical manifestations of type I Gaucher disease, Clin. Chim. Acta, 2008, 389, 109.
A. C. Vedder, F. Breunig, W. E. Donker-Koopman, K. Mills, E. Young, B. Winchester, I. J. M. Ten Berge, J. E. M. Groener, J. M. F. G. Aerts, C. Wanner and C. E. M. Hollak, Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3, Mol. Genet. Metab., 2008, 94, 319.
M. J. van Breemen, J. M. F. G. Aerts, R. R. Sprenger and D. Speijer, Potential artefacts in proteome analysis of plasma of Gaucher patients due to protease abnormalities, Clin. Chim. Acta, 2008, 396, 26.
M. R. Soeters, H. P. Sauerwein, P. F. Dubbelhuis, J. E. Groener, M. T. Ackermans, E. Fliers, J. M. Aerts and M. J. Serlie, Muscle adaptation to short-term fasting in healthy lean humans, J. Clin. Endocr. Metab., 2008, 93, 2900.
M. Langeveld, K. J. M. Ghauharali, H. P. Sauerwein, M. T. Ackermans, J. E. M. Groener, C. E. M. Hollak, J. M. Aerts and M. J. Serlie, Type I Gaucher disease, a glycosphingolipid storage disorder, is associated with insulin resistance, J Clin Endocr Metab, 2008, 93, 845.
A. Langeveld, M. de Fost, J. M. F. G. Aerts, H. P. Sauerwein and C. E. M. Hollak, Overweight, insulin resistance and type II diabetes in type I Gaucher disease patients in relation to enzyme replacement therapy, Blood Cell Mol Dis, 2008, 40, 428.
C. E. M. Hollak, A. C. Vedder, B. Winchester, J. M. F. G. Aerts and F. Breunig, Enzyme replacement therapy in Fabry disease: Towards a better understanding of the implications of antibody formation and dose, Mol Genet Metab, 2008, 95, 239.
J. E. M. Groener, B. J. H. M. Poorthuis, S. Kuiper, C. E. M. Hollak and J. M. F. G. Aerts, Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: Correlations with disease severity and response to therapeutic intervention, Bba-Mol. Cell Biol. L., 2008, 1781, 72.
M. de Fost, C. J. M. van Noesel, J. M. F. G. Aerts, M. Maas, R. G. Poll and C. E. M. Hollak, Persistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy, Haematol-Hematol J., 2008, 93, 1119.
M. de Fost, T. A. Out, F. A. de Wilde, E. P. M. Tjin, S. T. Pals, M. H. J. van Oers, R. G. Boot, J. F. M. G. Aerts, M. Maas, S. vom Dahl and C. E. M. Hollak, Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature, Ann. Hematol., 2008, 87, 439.
J. Cox-Brinkman, M. J. van Breemen, B. T. van Maldegem, L. Bour, W. Donker, C. Hollak, F. Wijburg and J. Aerts, Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III, J. Inherit. Metab. Dis., 2008, 31, 745.
T. M. Cox, J. M. F. G. Aerts, N. Belmatoug, M. D. Cappellini, S. vom Dahl, J. Goldblatt, G. A. Grabowski, C. E. M. Hollak, P. Hwu, M. Maas, A. M. Martins, P. K. Mistry, G. M. Pastores, A. Tylki-Szymanska, J. Yee and N. Weinreb, Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring, J. Inherit. Metab. Dis., 2008, 31, 319.
A. P. Bussink, J. Vreede, J. M. F. G. Aerts and R. G. Boot, A single histidine residue modulates enzymatic activity in acidic mammalian chitinase, FEBS Lett., 2008, 582, 931.
B. Bleijlevens, M. J. van Breemen, W. E. Donker-Koopman, C. G. de Koster and J. M. F. G. Aerts, Detection of mutant protein in complex biological samples: Glucocerebrosidase mutations in Gaucher's disease, Anal. Biochem., 2008, 372, 52.
N. Bijl, S. Scheij, S. Houten, R. G. Boot, A. K. Groen and J. M. F. G. Aerts, 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, J. Pharmacol. Exp. Ther., 2008, 326, 849.
M. Biegstraaten, I. N. van Schaik, J. M. F. G. Aerts and C. E. M. Hollak, '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, J. Inherit. Metab. Dis., 2008, 31, 337.
J. M. Aerts, M. J. van Breemen, A. P. Bussink, K. Ghauharali, R. Sprenger, R. G. Boot, J. E. Groener, C. E. Hollak, M. Maas, S. Smit, H. C. Hoefsloot, A. K. Smildel, J. P. C. Vissers, S. de Jong, D. Speijer and C. G. de Koster, Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease, Acta Paediatr., 2008, 97, 7.
J. M. Aerts, J. E. Groener, S. Kuiper, W. E. Donker-Koopman, A. Strijland, R. Ottenhoff, C. van Roomen, M. Mirzaian, F. A. Wijburg, G. E. Linthorst, A. C. Vedder, S. M. Rombach, J. Cox-Brinkman, P. Somerharju, R. G. Boot, C. E. Hollak, R. O. Brady and B. J. Poorthuis, Elevated globotriaosylsphingosine is a hallmark of Fabry disease, Proceedings of the National Academy of Sciences of the United States of America, 2008, 105, 2812.

2007

T. Wennekes, R. J. B. H. N. van den Berg, W. Donker, G. A. van der Marel, W. Donker, G. A. van der Marel, A. Strijland, J. M. F. G. Aerts and H. S. Overkleeft, Development of adamantan-1-yl-methoxy-functionalized 1-deoxynojirimycin derivatives as selective inhibitors of glucosylceramide metabolism in man, J Org Chem, 2007, 72, 1088.
J. P. C. Vissers, J. I. Langridge and J. M. F. G. Aerts, Analysis and quantification of diagnostic serum markers and protein signatures for Gaucher disease, Mol. Cell Proteomics, 2007, 6, 755.
A. C. Vedder, G. E. Linthorst, M. J. van Breemen, J. E. M. Groener, F. J. Bemelman, A. Strijland, M. M. A. M. Mannens, J. M. F. G. Aerts and C. E. M. Hollak, The Dutch Fabry cohort: Diversity of clinical manifestations and Gb(3) levels, J. Inherit. Metab. Dis., 2007, 30, 68.
A. C. Vedder, G. E. Linthorst, G. Houge, J. E. M. Groener, E. E. Ormel, B. J. Bouma, J. M. F. G. Aerts, A. Hirth and C. E. M. Hollak, Treatment of Fabry Disease: Outcome of a Comparative Trial with Agalsidase Alfa or Beta at a Dose of 0.2 mg/kg, Plos One, 2007, 2.
M. van Eijk, S. S. Scheij, C. P. A. A. van Roomen, D. Speijer, R. G. Boot and J. M. F. G. Aerts, TLR- and NOD2-dependent regulation of human phagocyte-specific chitotriosidase, FEBS Lett., 2007, 581, 5389.
M. J. van Breemen, M. de Fost, J. S. A. Voerman, J. D. Laman, R. G. Boot, M. Maas, C. E. M. Hollak, J. M. Aerts and F. Rezaee, Increased plasma macrophage inflammatory protein (MIP)-1 alpha and MIP-1 beta levels in type 1 Gaucher disease, Bba-Mol. Basis Dis., 2007, 1772, 788.
M. R. Soeters, H. P. Sauerwein, J. E. Groener, J. M. Aerts, M. T. Ackermans, J. F. C. Glatz, E. Fliers and M. J. Serlie, Gender-related differences in the metabolic response to fasting, J Clin Endocr Metab, 2007, 92, 3646.
S. Smit, M. J. van Breemen, H. C. J. Hoefsloot, A. K. Smilde, J. M. F. G. Aerts and C. G. de Koster, Assessing the statistical validity of proteomics based biomarkers, Anal. Chim. Acta, 2007, 592, 210.
P. J. Simons, P. S. van den Pangaart, J. M. F. G. Aerts and L. Boon, Pro-inflammatory delipidizing cytokines reduce adiponectin secretion from human adipocytes without affecting adiponectin oligomerization, J. Endocrinol., 2007, 192, 289.
M. J. Serlie, A. J. Meijer, J. E. Groener, M. Duran, E. Endert, E. Fliers, J. M. Aerts and H. P. Sauerwein, Short-term manipulation of plasma free fatty acids does not change skeletal muscle concentrations of ceramide and glucosylceramide in lean and overweight subjects, J. Clin. Endocr. Metab., 2007, 92, 1524.
M. J. Serlie, G. Allick, J. E. Groener, M. T. Ackermans, R. Heijligenberg, B. C. Voermans, J. M. Aerts, A. J. Meijer and H. P. Sauerwein, Chronic treatment with pioglitazone does not protect obese patients with diabetes mellitus type II from free fatty acid-induced insulin resistance, J. Clin. Endocr. Metab., 2007, 92, 166.
A. Schoonhoven, B. Rudensky, D. Elstein, A. Zimran, C. E. M. Hollak, J. E. Groener and J. M. F. G. Aerts, Monitoring of Gaucher patients with a novel chitotriosidase assay, Clin. Chim. Acta, 2007, 381, 136.
K. A. McEachern, J. Fung, S. Komarnitsky, C. S. Siegel, W. L. Chuang, E. Hutto, J. A. Shayman, G. A. Grabowski, J. M. F. G. Aerts, S. H. Cheng, D. P. Copeland and J. Marshall, A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease, Mol. Genet. Metab., 2007, 91, 259.
J. H. M. Levels, B. Bleijlevens, F. Rezaee, J. M. F. G. Aerts and J. C. M. Meijers, SELDI-TOF mass spectrometry of high-density lipoprotein, Proteome Sci, 2007, 5.
M. Langeveld, S. Scheij, P. Dubbelhuis, C. E. M. Hollak, H. P. Sauerwein, P. Simons and J. M. F. G. Aerts, Very low serum adiponectin levels in patients with type 1 Gaucher disease without overt hyperglycemia, Metabolism, 2007, 56, 314.
C. E. M. Hollak, A. C. Vedder, G. E. Linthorst and J. M. F. G. Aerts, Novel therapeutic targets for the treatment of Fabry disease, Expert Opin Ther Tar, 2007, 11, 821.
M. M. W. B. Hendriks, S. Smit, W. L. M. W. Akkermans, T. H. Reijmers, P. H. C. Eilers, H. C. J. Hoefsloot, C. M. Rubingh, C. G. de Koster, J. M. Aerts and A. K. Smilde, How to distinguish healthy from diseased? Classification strategy for mass specitrometry-based clinical proteomics, Proteomics, 2007, 7, 3672.
J. E. M. Groener, B. J. H. M. Poorthuis, S. Kuiper, M. T. J. Helmond, C. E. M. Hollak and J. M. F. G. Aerts, HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma, Clin. Chem., 2007, 53, 742.
D. Elstein, A. Dweck, D. Attias, I. Hadas-Halpern, S. Zevin, G. Altarescu, J. F. M. G. Aerts, S. van Weely and A. Zimran, Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement, Blood, 2007, 110, 2296.
M. de Fost, J. M. F. G. Aerts, J. E. M. Groener, M. Maas, E. M. Akkerman, M. G. Wiersma and C. E. M. Hollak, Low frequency maintenance therapy with imiglucerase in adult type I Gaucher disease: a prospective randomized controlled trial, Haematol-Hematol J, 2007, 92, 215.
J. Cox-Brinkman, R. G. M. Timmermans, F. A. Wijburg, W. E. Donker, A. T. van de Ploeg, J. M. F. G. Aerts and C. E. M. Hollak, Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe, J. Inherit. Metab. Dis., 2007, 30, 984.
A. P. Bussink, P. F. van Swieten, K. Ghauharali, S. Scheij, M. van Eijk, T. Wennekes, G. A. van der Marel, R. G. Boot, J. M. F. G. Aerts and H. S. Overkleeft, N-Azidoacetylmannosamine-mediated chemical tagging of gangliosides, J. Lipid Res., 2007, 48, 1417.
A. P. Bussink, D. Speijer, J. M. R. G. Aerts and R. G. Boot, Evolution of mammalian chitinase (-like) members of family 18 glycosyl hydrolases, Genetics, 2007, 177, 959.
R. G. Boot, M. Verhoek, W. Donker-Koopman, A. Strijland, J. van Marle, H. S. Overkleeft, T. Wennekes and J. M. F. G. Aerts, Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2, J. Biol. Chem., 2007, 282, 1305.
J. M. Aerts, R. Ottenhoff, A. S. Powlson, A. Grefhorst, M. van Eijk, P. F. Dubbelhuis, J. Aten, F. Kuipers, M. J. Serlie, T. Wennekes, J. K. Sethi, S. O'Rahilly and H. S. Overkleeft, Pharmacological inhibition of glucosylceramide synthase enhances insulin sensitivity, Diabetes, 2007, 56, 1341.

2006

A. C. Vedder, A. Strijland, M. A. V. Weerman, S. Florquin, J. M. F. G. Aerts and C. E. M. Hollak, Manifestations of Fabry disease in placental tissue, J. Inherit. Metab. Dis., 2006, 29, 106.
A. C. Vedder, J. Cox-Brinkman, C. E. M. Hollak, G. E. Linthorst, J. E. M. Groener, M. T. J. Helmond, S. Scheij and J. M. F. G. Aerts, Plasma chitotriosidase in male Fabry patients: A marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy, Mol. Genet. Metab., 2006, 89, 239.
M. J. van Breemen, B. Bleijlevens, C. G. de Koster and J. M. F. G. Aerts, Limitations in quantitation of the biomarker CCL 18 in Gaucher disease blood samples by surface-enhanced laser desorption/ionization time-of-flight mass spectrometry, Bba-Proteins Proteom., 2006, 1764, 1626.
G. E. Linthorst, A. C. Vedder, E. E. Ormel, J. M. F. G. Aerts and C. E. M. Hollak, Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands, Nephrol Dial Transpl, 2006, 21, 355.
J. H. M. Levels, B. Bleijlevens, J. A. Kuivenhoven, J. M. F. G. Aerts and J. C. Meijers, SELDI-TOF ms: A high-throughput tool for high-density lipoprotein protein fingerprinting, Atherosclerosis Supp., 2006, 7, 589.
M. de Fost, C. E. M. Hollak, J. E. M. Greener, J. M. F. G. Aerts, M. Maas, L. W. Poll, M. G. Wiersma, D. Haussinger, S. Brett, N. Brill and S. vom Dahl, 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, 2006, 108, 830.
A. P. Bussink, M. van Eijk, G. H. Renkema, J. M. Aerts and R. G. Boot, The biology of the Gaucher cell: the cradle of human chitinases, International review of cytology, 2006, 252, 71.
R. G. Boot, M. Verhoek, M. Langeveld, G. H. Renkema, C. E. M. Hollak, J. J. Weening, W. E. Donker-Koopman, J. E. Groener and J. M. F. G. Aerts, CCL18: A urinary marker of Gaucher cell burden in Gaucher patients, J. Inherit. Metab. Dis., 2006, 29, 564.
J. M. F. G. Aerts, C. E. M. Hollak, R. G. Boot, J. E. M. Groener and M. Maas, Substrate reduction therapy of glycosphingolipid storage disorders, J. Inherit. Metab. Dis., 2006, 29, 449.

2005

M. van Eijk, C. P. A. A. van Roomen, G. H. Renkema, A. P. Bussink, L. Andrews, E. F. C. Blommaart, A. Sugar, A. J. Verhoeven, R. G. Boot and J. M. F. G. Aerts, Characterization of human phagocyte-derived chitotriosidase, a component of innate immunity, Int. Immunol., 2005, 17, 1505.
P. J. Simons, P. S. van den Pangaart, C. P. A. A. van Roomen, J. M. F. G. Aerts and L. Boon, 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, 2005, 32, 94.
M. Schmitz, M. Alfalah, J. M. F. G. Aerts, H. Y. Naim and K. P. Zimmer, Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease, Int. J. Biochem. Cell B., 2005, 37, 2310.
F. V. Rao, D. R. Houston, R. G. Boot, J. M. F. G. Aerts, M. Hodkinson, D. J. Adams, K. Shiomi, S. Omura and D. M. F. van Aalten, Specificity and affinity of natural product cyclopentapeptide inhibitors against A. fumigatus, human, and bacterial chitinases, Chem. Biol., 2005, 12, 65.
R. R. Lonser, S. Walbridge, G. J. Murray, M. R. Aizenberg, A. O. Vortmeyer, J. M. F. G. Aerts, R. O. Brady and E. H. Oldfield, Convection perfusion of glucocerebrosidase for neuronopathic Gaucher's disease, Ann. Neurol., 2005, 57, 542.
G. E. Linthorst, A. C. Vedder, J. M. F. G. Aerts and C. E. M. Hollak, Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers, Clin. Chim. Acta, 2005, 353, 201.
M. Kennedy, J. P. C. Vissers, I. Campuzano, T. McKenna, J. Langridge and J. M. F. G. Aerts, Monitoring of the therapeutic protein, alpha galactosidase A, in human serum using liquid chromatography coupled with electrospray mass spectrometry, J Biotechnol, 2005, 118, S28.
C. E. Hollak, R. G. Boot, B. J. Poorthuis and J. M. Aerts, [From gene to disease; Gaucher disease], Nederlands tijdschrift voor geneeskunde, 2005, 149, 2163.
P. B. Deegan, M. T. Moran, I. McFarlane, J. P. Schofield, R. G. Boot, J. M. F. G. Aerts and T. M. Cox, Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease, Blood Cell Mol Dis, 2005, 35, 259.
P. B. Deegan, M. T. Moran, I. McFarlane, R. G. Boot, J. M. F. G. Aerts and T. M. Cox, Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease, Clin. Chim. Acta, 2005, 355, S352.
J. Brinkman, F. A. Wijburg, C. E. Hollak, J. E. Groener, M. Verhoek, S. Scheij, J. Aten, R. G. Boot and J. M. Aerts, Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease, J. Inherit. Metab. Dis., 2005, 28, 13.
R. G. Boot, A. P. Bussink, M. Verhoek, P. A. J. de Boer, A. F. M. Moorman and J. M. F. G. Aerts, Marked differences in tissue-specific expression of chitinases in mouse and man, J Histochem Cytochem, 2005, 53, 1283.
R. G. Boot, A. P. Bussink and J. M. F. G. Aerts, Human acidic mammalian chitinase erroneously known as eosinophil chemotactic cytokine is not the ortholog of mouse YM1, J. Immunol., 2005, 175, 2041.
J. M. F. G. Aerts, C. E. M. Hollak, M. van Breemen, M. Maas, J. E. M. Groener and R. G. Boot, Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases, Acta Paediatr, 2005, 94, 43.

2004

C. Shen, D. Bullens, A. Kasran, P. Maerten, L. Boon, J. M. F. G. Aerts, G. van Assche, K. Geboes, P. Rutgeerts and J. L. Ceuppens, Inhibition of glycolipid biosynthesis by N-(5-adamantane-1-yl-methoxy-pentyl)-deoxynojirimycin protects against the inflammatory response in hapten-induced colitis, Int Immunopharmacol, 2004, 4, 939.
G. E. Linthorst, C. E. M. Hollak, W. E. Donker-Koopman, A. Strijland and J. M. F. G. Aerts, Enzyme therapy for Fabry disease: Neutralizing antibodies toward agalsidase alpha and beta, Kidney Int, 2004, 66, 1589.
G. E. Linthorst, M. A. De Rie, K. H. Tjiam, J. M. F. G. Aerts, K. P. Dingemans and C. E. M. Hollak, Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion, Brit J Dermatol, 2004, 150, 575.
D. Elstein, C. Hollak, J. M. F. G. Aerts, S. van Weely, M. Maas, T. M. Cox, R. H. Lachmann, M. Hrebicek, F. M. Platt, T. D. Butters, R. A. Dwek and A. Zimran, Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease, J. Inherit. Metab. Dis., 2004, 27, 757.
R. G. Boot, M. Verhoek, M. de Fost, C. E. M. Hollak, M. Maas, B. Bleijlevens, M. J. van Breemen, M. van Meurs, L. A. Boven, J. D. Laman, M. T. Moran, T. M. Cox and J. M. F. G. Aerts, Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention, Blood, 2004, 103, 33.

2003

F. V. Rao, D. R. Houston, R. G. Boot, J. M. F. G. Aerts, S. Sakuda and D. M. F. van Aalten, Crystal structures of allosamidin derivatives in complex with human macrophage chitinase, J. Biol. Chem., 2003, 278, 20110.
G. E. Linthorst, C. E. M. Hollak, J. C. Korevaar, J. G. van Manen, J. M. F. G. Aerts and E. W. Boeschoten, alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease, Nephrol Dial Transpl, 2003, 18, 1581.
G. E. Linthorst, C. C. Folman, J. M. F. G. Aerts and C. E. M. Hollak, Blood group does not correlate with disease severity in patients with Fabry disease (alpha-galactosidase A deficiency), Blood Cell Mol Dis, 2003, 31, 324.
M. de Fost, J. M. F. G. Aerts and C. E. M. Hollak, Gaucher disease: from fundamental research to effective therapeutic interventions, Neth J Med, 2003, 61, 3.
T. M. Cox, J. M. F. G. Aerts, G. Andria, M. Beck, N. Belmatoug, B. Bembi, R. Chertkoff, S. Vom Dahl, D. Elstein, A. Erikson, M. Giralt, R. Heitner, C. Hollak, M. Hrebicek, S. Lewis, A. Mehta, G. M. Pastores, A. Rolfs, M. C. S. Miranda, A. Zimran and Ewggd, The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement, J. Inherit. Metab. Dis., 2003, 26, 513.
D. Blom, D. Speijer, G. E. Linthorst, W. G. Donker-Koopman, A. Strijland and J. M. F. G. Aerts, Recombinant enzyme therapy for Fabry disease: Absence of editing of human alpha-galactosidase A mRNA, Am. J. Hum. Genet., 2003, 72, 23.
B. Aguilera, K. Ghauharali-van der Vlugt, M. T. J. Helmond, J. M. M. Out, W. E. Donker-Koopman, J. E. M. Groener, R. G. Boot, G. H. Renkema, G. A. van der Marel, J. H. van Boom, H. S. Overkleeft and J. M. F. G. Aerts, Transglycosidase activity of chitotriosidase - Improved enzymatic assay for the human macrophage chitinase, J. Biol. Chem., 2003, 278, 40911.
J. M. Aerts, C. Hollak, R. Boot and A. Groener, Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention, Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 2003, 358, 905.

2002

M. Maas, C. E. M. Hollak, E. M. Akkerman, J. M. F. G. Aerts, J. Stoker and G. J. Den Heeten, 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, Am. J. Roentgenol., 2002, 179.
F. Fusetti, H. von Moeller, D. Houston, H. J. Rozeboom, B. W. Dijkstra, R. G. Boot, J. M. F. G. Aerts and D. M. F. van Aalten, Structure of human chitotriosidase - Implications for specific inhibitor design and function of mammalian chitinase-like lectins, J. Biol. Chem., 2002, 277, 25537.

2001

F. M. Platt, M. Jeyakumar, U. Andersson, D. A. Priestman, R. A. Dwek, T. D. Butters, T. M. Cox, R. H. Lachmann, C. Hollak, J. M. F. G. Aerts, S. Van Weely, M. Hrebicek, C. Moyses, I. Gow, D. Elstein and A. Zimran, Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy, J. Inherit. Metab. Dis., 2001, 24, 275.
C. E. Hollak, M. Maas and J. M. Aerts, Clinically relevant therapeutic endpoints in type I Gaucher disease, J. Inherit. Metab. Dis., 2001, 24 Suppl 2, 97.
R. G. Boot, E. F. C. Blommaart, E. Swart, K. Ghauharali-van der Vlugt, N. Bijl, C. Moe, A. Place and J. M. F. G. Aerts, Identification of a novel acidic mammalian chitinase distinct from chitotriosidase, J. Biol. Chem., 2001, 276, 6770.

2000

G. E. Linthorst, C. E. Hollak, D. K. Bosman, H. S. Heymans and J. M. Aerts, Fabry's disease; towards a treatment, Nederlands tijdschrift voor geneeskunde, 2000, 144, 2391.

1999

D. A. van Sluijters, G. M. van Woerkom, J. M. F. G. Aerts and A. J. Meijer, Sphingomyelinase treatment of rat hepatocytes inhibits cell-swelling-stimulated glycogen synthesis by causing cell shrinkage, Eur J Biochem, 1999, 266, 653.
F. N. Lauw, A. A. Te Velde, P. E. P. Dekkers, P. Speelman, J. M. F. G. Aerts, C. E. Hack, S. J. H. Van Deventer and T. Van der Poll, Activation of mononuclear cells by interleukin-12: An in vivo study in chimpanzees, J Clin Immunol, 1999, 19, 231.
R. G. Boot, T. A. E. van Achterberg, B. E. van Aken, G. H. Renkema, M. J. H. M. Jacobs, J. M. F. G. Aerts and C. J. M. de Vries, Strong induction of members of the chitinase family of proteins in atherosclerosis - Chitotriosidase and human cartilage gp-39 expressed in lesion macrophages, Arterioscl. Throm. Vas., 1999, 19, 687.

1998

A. Van Royen-Kerkhof, B. T. Poll-The, W. Kleijer, O. P. Van Diggelen, J. M. F. G. Aerts, J. J. Hopwood and F. A. Beemer, Coexistence of Gaucher disease type 1 and Joubert syndrome, J Med Genet, 1998, 35, 965.
G. H. Renkema, R. G. Boot, F. L. Au, W. E. Donker-Koopman, A. Strijland, A. O. Muijsers, M. Hrebicek and J. M. F. G. Aerts, 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, Eur J Biochem, 1998, 251, 504.
H. S. Overkleeft, G. H. Renkema, J. Neele, P. Vianello, I. O. Hung, A. Strijland, A. M. van der Burg, G. J. Koomen, U. K. Pandit and J. M. F. G. Aerts, Generation of specific deoxynojirimycin-type inhibitors of the non-lysosomal glucosylceramidase, J. Biol. Chem., 1998, 273, 26522.
C. E. M. Hollak, J. M. F. G. Aerts and N. H. J. van Oers, Alglucerase - Practical guidance on appropriate dosage and administration in patients with Gaucher disease, Biodrugs, 1998, 9, 11.
J. G. N. de Jong, J. M. F. G. Aerts, S. van Weely, C. E. M. Hollak, J. van Pelt, L. M. J. van Woerkom, M. L. F. Liebrand-van Sambeek and R. A. Wevers, Oligosaccharide excretion in adult Gaucher disease, J. Inherit. Metab. Dis., 1998, 21, 49.
R. G. Boot, G. H. Renkema, M. Verhoek, A. Strijland, J. Bliek, T. M. A. M. O. de Meulemeester, M. M. A. M. Mannens and J. M. F. G. Aerts, The human chitotriosidase gene - Nature of inherited enzyme deficiency, J. Biol. Chem., 1998, 273, 25680.

1997

G. H. Renkema, R. G. Boot, A. Strijland, W. E. DonkerKoopman, M. vandenBerg, A. O. Muijsers and J. M. F. G. Aerts, Synthesis, sorting, and processing into distinct isoforms of human macrophage chitotriosidase, Eur J Biochem, 1997, 244, 279.
C. E. M. Hollak, M. Maas, G. Linthorst, M. H. J. vanOers, J. M. F. G. Aerts and A. E. G. K. vondemBorne, Levels of thrombopoietin (TPO) are elevated in splenectomized Gaucher Disease (GD) patients and may reflect bone marrow infiltration, Blood, 1997, 90, 624.
C. E. M. Hollak, M. Levi, F. Berends, J. M. F. G. Aerts and M. H. J. vanOers, Coagulation abnormalities in type 1 Gaucher disease are due to low-grade activation and can be partly restored by enzyme supplementation therapy, Brit J Haematol, 1997, 96, 470.
C. E. M. Hollak, L. Evers, J. M. F. G. Aerts and M. H. J. vanOers, Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease, Blood Cell Mol Dis, 1997, 23, 201.
C. E. M. Hollak, E. P. M. Corssmit, J. M. F. G. Aerts, E. Endert, H. P. Sauerwein, J. A. Romijn and M. H. J. vanOers, Differential effects of enzyme supplementation therapy on manifestations of type 1 Gaucher disease, Am. J. Med., 1997, 103, 185.
K. Hodanova, M. Hrebicek, M. Cervenkova, J. M. F. G. Aerts and J. Zeman, Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patients, J. Inherit. Metab. Dis., 1997, 20, 611.
R. G. Boot, C. E. M. Hollak, M. Verhoek, P. Sloof, B. J. H. M. Poorthuis, W. J. Kleijer, R. A. Wevers, M. H. J. vanOers, M. M. A. M. Mannens, J. M. F. G. Aerts and S. vanWeely, Glucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value, Hum Mutat, 1997, 10, 348.
J. M. F. G. Aerts and C. E. M. Hollak, Plasma and metabolic abnormalities in Gaucher's disease, Bailliere Clin. Haem., 1997, 10, 691.

1996

M. Mikhaylova, G. Wiederschain, V. Mikhaylov and J. M. F. G. Aerts, The enzymatic hydrolysis of 6-acylamino-4-methylumbelliferyl-beta-D-glucosides: Identification of a novel human acid beta-glucosidase, Bba-Mol. Basis Dis., 1996, 1317, 71.
H. Michelakakis, C. Spanou, A. Kondyli, E. Dimitriou, S. VanWeely, C. E. M. Hollak, M. H. J. VanOers and J. M. F. G. Aerts, Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher disease, Bba-Mol. Basis Dis., 1996, 1317, 219.
E. R. B. McCabe, B. A. Fine, M. S. Golbus, J. B. Greenhouse, G. L. McGrath, M. New, W. E. OBrien, P. T. Rowley, W. S. Sly, M. A. Spence, J. A. Stockman, M. Whyte, W. Wilson, B. Wolf, J. M. F. G. Aerts, J. A. Barranger, N. W. Barton, E. Beutler, R. O. Brady, T. M. Cox, J. Ekstein, C. M. Eng, A. Erikson, D. M. Findling, A. M. Garber, E. I. Ginns, G. A. Grabowski, S. C. Hill, C. E. M. Hollack, M. M. Kaback, R. E. Lee, H. J. Mankin, P. K. Mistry, R. A. Moscicki, G. J. Murray, M. Natowicz, G. M. Pastores, M. C. S. Miranda, E. Sidransky, J. E. Ware, R. Willemsen, R. Zaizov, A. Zimran, I. Z. Beitins, R. E. Berman, J. M. Elliott, J. H. Ferguson, W. H. Hall, C. McKeon, R. M. Nitkin, S. L. Schlesinger, P. H. Sheridan, M. Weeks, R. W. Cowdry, D. F. Alexander, P. Gorden, Z. W. Hall, J. L. Vaitukaitis, F. S. Collins and S. Groft, Gaucher disease - Current issues in diagnosis and treatment, Jama-J. Am. Med. Assoc., 1996, 275, 548.
J. J. F. P. Luiken, J. M. F. G. Aerts and A. J. Meijer, The role of the intralysosomal pH in the control of autophagic proteolytic flux in rat hepatocytes, Eur J Biochem, 1996, 235, 564.
M. Hrebicek, J. Zeman, J. Musilova, K. Hodanova, G. H. Renkema, L. Veprekova, J. Ledvinova, D. Hrebicek, J. Sokolova, J. M. F. G. Aerts and M. Elleder, A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency, Virchows. Arch., 1996, 429, 305.
C. E. Hollak, M. H. van Oers, P. Maaswinkel, J. M. Aerts and R. Goudsmit, The treatment of Gaucher's disease in The Netherlands using enzyme substitution therapy, Nederlands tijdschrift voor geneeskunde, 1996, 140, 1011.
D. K. Bosman, C. E. M. Hollak, J. M. F. G. Aerts and H. D. Bakker, The effect of enzyme therapy in a patient with Gaucher disease type III, J. Inherit. Metab. Dis., 1996, 19, 703.
M. K. Bijsterbosch, W. Donker, H. VandeBilt, S. VanWeely, T. J. C. VanBerkel and J. M. F. G. Aerts, Quantitative analysis of the targeting of mannose-terminal glucocerebrosidase - Predominant uptake by liver endothelial cells, Eur. J. Biochem., 1996, 237, 344.

1995

G. H. Renkema, R. G. Boot, A. O. Muijsers, W. E. Donkerkoopman and J. M. F. G. Aerts, Purification and Characterization of Human Chitotriosidase, a Novel Member of the Chitinase Family of Proteins, J. Biol. Chem., 1995, 270, 2198.
H. Michelakakis, E. Dimitriou, S. Vanweely, R. G. Boot, I. Mavridou, M. Verhoek and J. M. F. G. Aerts, Characterization of Glucocerebrosidase in Greek Gaucher Disease Patients - Mutation Analysis and Biochemical-Studies, J. Inherit. Metab. Dis., 1995, 18, 609.
C. E. M. Hollak, J. M. F. G. Aerts, R. Goudsmit, S. S. K. S. Phoa, M. Ek, S. Vanweely, A. E. G. K. Vondemborne and M. H. J. Vanoers, Individualized Low-Dose Alglucerase Therapy for Type-1 Gauchers-Disease, Lancet, 1995, 345, 1474.
Y. F. Guo, W. He, A. M. Boer, R. A. Wevers, A. M. deBruijn, J. E. M. M. Groener, C. E. M. Hollak, J. M. F. G. Aerts, H. Galjaard and O. P. vanDiggelen, Elevated plasma chitotriosidase activity in various lysosomal storage disorders, J. Inherit. Metab. Dis., 1995, 18, 717.
R. G. Boot, G. H. Renkema, A. Strijland, A. J. Vanzonneveld and J. M. F. G. Aerts, Cloning of a Cdna-Encoding Chitotriosidase, a Human Chitinase Produced by Macrophages, J. Biol. Chem., 1995, 270, 26252.
R. G. Boot, G. H. Renkema, A. Strijland, A. J. van Zonneveld and J. M. Aerts, Cloning of a cDNA encoding chitotriosidase, a human chitinase produced by macrophages, The Journal of biological chemistry, 1995, 270, 26252.
M. K. Bijsterbosch, W. Donker, H. Vandebilt, S. Vanweely, T. J. C. Vanberkel and J. M. F. G. Aerts, Mannose Terminal Glucocerebrosidase Is Cleared from the Circulation by Liver Endothelial-Cells, but Not Kupffer Cells, Hepatology, 1995, 22, 1074.

1994

J. M. Tager, J. M. F. G. Aerts, C. Vandenbogert and R. J. A. Wanders, Signals on Proteins, Intracellular Targeting and Inborn-Errors of Organellar Metabolism, J. Inherit. Metab. Dis., 1994, 17, 459.
C. E. M. Hollak, S. Vanweely, M. H. J. Vanoers and J. M. F. G. Aerts, Marked Elevation of Plasma Chitotriosidase Activity - a Novel Hallmark of Gaucher Disease, J Clin Invest, 1994, 93, 1288.

1993

S. Vanweely, M. Vandenberg, J. A. Barranger, M. C. S. Miranda, J. M. Tager and J. M. F. G. Aerts, Role of Ph in Determining the Cell-Type Specific Residual Activity of Glucocerebrosidase in Type-1 Gaucher Disease, J Clin Invest, 1993, 91, 1167.
S. Vanweely, M. Brandsma, A. Strijland, J. M. Tager and J. M. F. G. Aerts, Demonstration of the Existence of a 2nd, Nonlysosomal Glucocerebrosidase That Is Not Deficient in Gaucher Disease, Biochim Biophys Acta, 1993, 1181, 55.
C. E. M. Hollak, J. M. F. G. Aerts, S. Vanweely, S. S. K. S. Phoa, R. Goudsmit, A. E. G. K. Vondemborne and M. H. J. Vanoers, Enzyme Suppletion Therapy for Type-1 Gaucher Disease - Efficacy of Very-Low Dose Alglucerase in 12 Patients, Blood, 1993, 82, A33.
C. E. M. Hollak, J. M. F. G. Aerts and M. H. J. Vanoers, Treatment of Gauchers-Disease, New Engl J Med, 1993, 328, 1565.
J. M. F. G. Aerts, S. Vanweely, R. Boot, C. E. M. Hollak and J. M. Tager, Pathogenesis of Lysosomal Storage Disorders as Illustrated by Gaucher Disease, J. Inherit. Metab. Dis., 1993, 16, 288.

1991

S. Vanweely, M. B. Vanleeuwen, I. D. C. Jansen, M. A. C. Debruijn, E. M. Brouwerkelder, A. W. Schram, M. Clarasamiranda, J. A. Barranger, E. M. Petersen, J. Goldblatt, H. Stotz, G. Schwarzmann, K. Sandhoff, L. Svennerholm, A. Erikson, J. M. Tager and J. M. F. G. Aerts, Clinical Phenotype of Gaucher Disease in Relation to Properties of Mutant Glucocerebrosidase in Cultured Fibroblasts, Biochim Biophys Acta, 1991, 1096, 301.
T. Ohashi, C. M. Hong, S. Weiler, J. M. Tomich, J. M. F. G. Aerts, J. M. Tager and J. A. Barranger, Characterization of Human Glucocerebrosidase from Different Mutant Alleles, J. Biol. Chem., 1991, 266, 3661.
J. M. F. G. Aerts, M. C. Samiranda, L. W. Delacerda, S. Vanweely, W. Donkerkoopman, B. Brouwerkelder, D. C. Jansen, M. Vanleeuwen, A. W. Schram, A. Tsiapara and J. M. Tager, The Identification of Type-1 Gaucher Disease Patients, Asymptomatic Cases and Carriers in the Netherlands Using Urine Samples - an Evaluation, Clin. Chim. Acta, 1991, 203, 349.

1990

S. Weiler, W. D. Carson, T. Ohashi, Y. Kishimoto, S. Morimoto, J. S. Obrien, J. M. F. G. Aerts, J. M. Tager, J. A. Barranger and J. M. Tomich, Synthesis and Active-Site Mapping of a Lysosomal Activator Protein, Pediatr Res, 1990, 27, A137.
S. Vanweely, J. M. F. G. Aerts, M. B. Vanleeuwen, J. C. Heikoop, W. E. Donkerkoopman, J. A. Barranger, J. M. Tager and A. W. Schram, Function of Oligosaccharide Modification in Glucocerebrosidase, a Membrane-Associated Lysosomal Hydrolase, Eur J Biochem, 1990, 191, 669.
M. C. S. Miranda, J. M. F. G. Aerts, R. Pinto, A. Fontes, L. W. Delacerda, S. Vanweely, J. Barranger and J. M. Tager, Activity of Glucocerebrosidase in Extracts of Different Cell-Types from Type-1 Gaucher Disease Patients, Clin Genet, 1990, 38, 218.
J. M. F. G. Aerts, M. C. S. Miranda, E. M. Brouwerkelder, S. Vanweely, J. A. Barranger and J. M. Tager, Conditions Affecting the Activity of Glucocerebrosidase Purified from Spleens of Control Subjects and Patients with Type-1 Gaucher Disease, Biochim Biophys Acta, 1990, 1041, 55.
J. M. F. G. Aerts, W. E. Donkerkoopman, S. Brul, S. Vanweely, M. C. S. Miranda, J. A. Barranger, J. M. Tager and A. W. Schram, Comparative-Study on Glucocerebrosidase in Spleens from Patients with Gaucher Disease, Biochem J, 1990, 269, 93.

1988

R. Willemsen, J. M. Vandongen, J. M. F. G. Aerts, A. W. Schram, J. M. Tager, R. Goudsmit and A. J. J. Reuser, An Immunoelectron Microscopic Study of Glucocerebrosidase in Type-1 Gauchers-Disease Spleen, Ultrastruct Pathol, 1988, 12, 471.
R. Willemsen, J. M. F. G. Aerts, J. M. Vandongen, R. Goudsmit, A. W. Schram, J. M. Tager and A. J. J. Reuser, An Immunoelectron Microscopic Study of Glucocerebrosidase in Type-I Gauchers-Disease Spleen, Ultramicroscopy, 1988, 24, 452.
M. C. S. Miranda, J. M. F. G. Aerts, R. A. A. Pinto, J. A. Magalhaes, J. A. Barranger, J. M. Tager and A. W. Schram, Heterogeneity in Human Acid Beta-Glucosidase Revealed by Cellulose-Acetate Electrophoresis, Biochim Biophys Acta, 1988, 965, 163.
J. M. F. G. Aerts, A. W. Schram, A. Strijland, S. Vanweely, L. M. V. Jonsson, J. M. Tager, S. H. Sorrell, E. I. Ginns, J. A. Barranger and G. J. Murray, Glucocerebrosidase, a Lysosomal-Enzyme That Does Not Undergo Oligosaccharide Phosphorylation, Biochim Biophys Acta, 1988, 964, 303.
J. M. F. G. Aerts, J. Heikoop, S. Vanweely, W. E. Donkerkoopman, J. A. Barranger, J. M. Tager and A. W. Schram, Characterization of Glucocerebrosidase in Peripheral-Blood Cells and Cultured Blastoid Cells, Exp Cell Res, 1988, 177, 391.

1987

J. M. F. G. Aerts, W. E. Donkerkoopman, C. Vanlaar, S. Brul, G. J. Murray, D. A. Wenger, J. A. Barranger, J. M. Tager and A. W. Schram, Relationship between the 2 Immunologically Distinguishable Forms of Glucocerebrosidase in Tissue-Extracts, Eur J Biochem, 1987, 163, 583.

1986

G. J. Murray, B. M. Martin, M. Garfield, W. Eliason, E. I. Ginns, J. M. F. G. Aerts, A. W. Schram, J. M. Tager and J. A. Barranger, Immunoaffinity Purification of Glucocerebrosidase from Normal and Gaucher Spleen, Faseb J, 1986, 45, 1824.
J. M. F. G. Aerts, W. E. Donkerkoopman, G. J. Murray, J. A. Barranger, J. M. Tager and A. W. Schram, A Procedure for the Rapid Purification in High-Yield of Human Glucocerebrosidase Using Immunoaffinity Chromatography with Monoclonal-Antibodies, Anal. Biochem., 1986, 154, 655.
J. M. F. G. Aerts, W. E. Donkerkoopman, M. Koot, G. J. Murray, J. A. Barranger, J. M. Tager and A. W. Schram, Comparison of the Properties of a Soluble Form of Glucocerebrosidase from Human-Urine with Those of the Membrane-Associated Tissue Enzyme, Biochim Biophys Acta, 1986, 863, 63.
J. M. F. G. Aerts, W. E. Donkerkoopman, M. Koot, J. A. Barranger, J. M. Tager and A. W. Schram, Deficient Activity of Glucocerebrosidase in Urine from Patients with Type-1 Gaucher Disease, Clin. Chim. Acta, 1986, 158, 155.
J. M. F. G. Aerts, S. Brul, W. E. Donkerkoopman, S. Vanweely, G. J. Murray, J. A. Barranger, J. M. Tager and A. W. Schram, Efficient Routing of Glucocerebrosidase to Lysosomes Requires Complex Oligosaccharide Chain Formation, Biochem. Biophys. Res. Commun., 1986, 141, 452.

1985

J. M. F. G. Aerts and A. W. Schram, Isolation of Vacuoles from the Upper Epidermis of Petunia-Hybrida Petals .1. A Comparison of Isolation Procedures, Z Naturforsch C, 1985, 40, 189.
J. M. F. G. Aerts and A. W. Schram, Isolation of Vacuoles from the Upper Epidermis of Petunia-Hybrida Petals .2. Vacuolar Localization of Some Hydrolases, Z Naturforsch C, 1985, 40, 196.
J. M. F. G. Aerts, A. M. Lauwers and W. Heinen, Temperature-Dependent Lipid-Content and Fatty-Acid Composition of 3 Thermophilic Bacteria, A Van Leeuw J Microb, 1985, 51, 155.
J. M. F. G. Aerts, W. E. Donkerkoopman, M. K. Vandervliet, L. M. V. Jonsson, E. I. Ginns, G. J. Murray, J. A. Barranger, J. M. Tager and A. W. Schram, The Occurrence of 2 Immunologically Distinguishable Beta-Glucocerebrosidases in Human Spleen, Eur J Biochem, 1985, 150, 565.

1984

J. M. Tager, L. V. M. Jonsson, J. M. F. G. Aerts, R. P. J. O. Elferink, A. W. Schram, A. H. Erickson and J. A. Barranger, Metabolic Consequences of Genetic-Defects in Lysosomes, Biochem. Soc. Trans., 1984, 12, 902.