Elevated globotriaosylsphingosine is a hallmark of Fabry disease
Aerts, Johannes M, Groener, Johanna E, Kuiper, Sijmen, Donker-Koopman, Wilma E, Strijland, Anneke, Ottenhoff, Roelof, van Roomen, Cindy, Mirzaian, Mina, Wijburg, Frits A, Linthorst, Gabor E, Vedder, Anouk C, Rombach, Saskia M, Cox-Brinkman, Josanne, Somerharju, Pentti, Boot, Rolf G, Hollak, Carla E, Brady, Roscoe O, Poorthuis, Ben J
Published in Proceedings of the National Academy of Sciences - PNAS (26.02.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (26.02.2008)
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Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models
Kramer, Gertjan, Wegdam, Wouter, Donker‐Koopman, Wilma, Ottenhoff, Roelof, Gaspar, Paulo, Verhoek, Marri, Nelson, Jessica, Gabriel, Tanit, Kallemeijn, Wouter, Boot, Rolf G., Laman, Jon D., Vissers, Johannes P.C., Cox, Timothy, Pavlova, Elena, Moran, Mary Teresa, Aerts, Johannes M., Eijk, Marco
Published in FEBS open bio (01.09.2016)
Published in FEBS open bio (01.09.2016)
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Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard
Mirzaian, Mina, Wisse, Patrick, Ferraz, Maria J., Gold, Henrik, Donker-Koopman, Wilma E., Verhoek, Marri, Overkleeft, Herman S., Boot, Rolf G., Kramer, Gertjan, Dekker, Nick, Aerts, Johannes M.F.G.
Published in Blood cells, molecules, & diseases (01.04.2015)
Published in Blood cells, molecules, & diseases (01.04.2015)
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ortho-Carborane-Modified N-Substituted Deoxynojirimycins
Hoogendoorn, Sascha, Mock, Elliot D., Strijland, Anneke, Donker-Koopman, Wilma E., van den Elst, Hans, van den Berg, Richard J. B. H. N., Aerts, Johannes M. F. G., van der Marel, Gijsbert A., Overkleeft, Herman S.
Published in European journal of organic chemistry (01.07.2015)
Published in European journal of organic chemistry (01.07.2015)
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Synthesis and Evaluation of Lipophilic Aza-C-glycosides as Inhibitors of Glucosylceramide Metabolism
Wennekes, Tom, van den Berg, Richard J. B. H. N., Boltje, Thomas J., Donker-Koopman, Wilma E., Kuijper, Bastiaan, van der Marel, Gijsbert A., Strijland, Anneke, Verhagen, Carlo P., Aerts, Johannes M. F. G., Overkleeft, Herman S.
Published in European Journal of Organic Chemistry (01.03.2010)
Published in European Journal of Organic Chemistry (01.03.2010)
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Book Review
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The Development of an Aza-C-Glycoside Library Based on a Tandem Staudinger/Aza-Wittig/Ugi Three-Component Reaction
Wennekes, Tom, Bonger, Kimberly M., Vogel, Katrin, van den Berg, Richard J. B. H. N., Strijland, Anneke, Donker-Koopman, Wilma E., Aerts, Johannes M. F. G., van der Marel, Gijsbert A., Overkleeft, Herman S.
Published in European journal of organic chemistry (01.11.2012)
Published in European journal of organic chemistry (01.11.2012)
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Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates
Bussink, Anton P, Verhoek, Marri, Vreede, Jocelyne, Ghauharali-van der Vlugt, Karen, Donker-Koopman, Wilma E, Sprenger, Richard R, Hollak, Carla E, Aerts, Johannes M.F.G, Boot, Rolf G
Published in The FEBS journal (01.10.2009)
Published in The FEBS journal (01.10.2009)
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Journal Article
Activity-Based Profiling of Retaining β-Glucosidases: A Comparative Study
Witte, Martin D., Walvoort, Marthe T. C., Li, Kah-Yee, Kallemeijn, Wouter W., Donker-Koopman, Wilma E., Boot, Rolf G., Aerts, Johannes M. F. G., Codée, Jeroen D. C., van der Marel, Gijsbert A., Overkleeft, Herman S.
Published in Chembiochem : a European journal of chemical biology (16.05.2011)
Published in Chembiochem : a European journal of chemical biology (16.05.2011)
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Journal Article
Ultrasensitive in situ visualization of active glucocerebrosidase molecules
Witte, Martin D, Kallemeijn, Wouter W, Aten, Jan, Li, Kah-Yee, Strijland, Anneke, Donker-Koopman, Wilma E, van den Nieuwendijk, Adrianus M C H, Bleijlevens, Boris, Kramer, Gertjan, Florea, Bogdan I, Hooibrink, Berend, Hollak, Carla E M, Ottenhoff, Roelof, Boot, Rolf G, van der Marel, Gijsbert A, Overkleeft, Herman S, Aerts, Johannes M F G
Published in Nature chemical biology (31.10.2010)
Published in Nature chemical biology (31.10.2010)
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Synthesis and Evaluation of Hybrid Structures Composed of Two Glucosylceramide Synthase Inhibitors
van den Berg, Richard J. B. H. N., van Rijssel, Erwin R., Ferraz, Maria Joao, Houben, Judith, Strijland, Anneke, Donker-Koopman, Wilma E., Wennekes, Tom, Bonger, Kimberly M., Ghisaidoobe, Amar B. T., Hoogendoorn, Sascha, van der Marel, Gijsbert A., Codée, Jeroen D. C., Overkleeft, Herman S., Aerts, Johannes M. F. G.
Published in ChemMedChem (01.12.2015)
Published in ChemMedChem (01.12.2015)
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Nanomolar affinity, iminosugar-based chemical probes for specific labeling of lysosomal glucocerebrosidase
Scherpenzeel, Monique van, van den Berg, Richard J.B.H.N., Donker-Koopman, Wilma E., Liskamp, Rob M.J., Aerts, Johannes M.F.G., Overkleeft, Herman S., Pieters, Roland J.
Published in Bioorganic & medicinal chemistry (2010)
Published in Bioorganic & medicinal chemistry (2010)
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Journal Article
Ultrasensitive in situ visualization of active glucocerebrosidase molecules
Overkleeft, Herman S, Aerts, Johannes M F G, Witte, Martin D, Kallemeijn, Wouter W, Aten, Jan, Li, Kah-Yee, Strijland, Anneke, Donker-Koopman, Wilma E, van den Nieuwendijk, Adrianus M C H, Bleijlevens, Boris, Kramer, Gertjan, Florea, Bogdan I, Hooibrink, Berend, Hollak, Carla E M, Ottenhoff, Roelof, Boot, Rolf G, van der Marel, Gijsbert A
Published in Nature chemical biology (01.12.2010)
Published in Nature chemical biology (01.12.2010)
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Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome
Rombach, Saskia M, Aerts, Johannes M F G, Poorthuis, Ben J H M, Groener, Johanna E M, Donker-Koopman, Wilma, Hendriks, Erik, Mirzaian, Mina, Kuiper, Sijmen, Wijburg, Frits A, Hollak, Carla E M, Linthorst, Gabor E
Published in PloS one (19.10.2012)
Published in PloS one (19.10.2012)
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CCL18: A urinary marker of Gaucher cell burden in Gaucher patients
Boot, Rolf G., Verhoek, Marri, Langeveld, Mirjam, Renkema, G. Herma, Hollak, Carla E. M., Weening, Jan J., Donker‐Koopman, Wilma E., Groener, Johanna E., Aerts, Johannes M. F. G.
Published in Journal of inherited metabolic disease (01.08.2006)
Published in Journal of inherited metabolic disease (01.08.2006)
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HEPES activates a MiT/TFE-dependent lysosomal-autophagic gene network in cultured cells: A call for caution
Tol, Marc J., van der Lienden, Martijn J.C., Gabriel, Tanit L., Hagen, Jacob J., Scheij, Saskia, Veenendaal, Tineke, Klumperman, Judith, Donker-Koopman, Wilma E., Verhoeven, Arthur J., Overkleeft, Hermen, Aerts, Johannes M., Argmann, Carmen A., van Eijk, Marco
Published in Autophagy (04.03.2018)
Published in Autophagy (04.03.2018)
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Journal Article
Potent and Selective Activity-Based Probes for GH27 Human Retaining α‑Galactosidases
Willems, Lianne I, Beenakker, Thomas J. M, Murray, Benjamin, Scheij, Saskia, Kallemeijn, Wouter W, Boot, Rolf G, Verhoek, Marri, Donker-Koopman, Wilma E, Ferraz, Maria J, van Rijssel, Erwin R, Florea, Bogdan I, Codée, Jeroen D. C, van der Marel, Gijsbert A, Aerts, Johannes M. F. G, Overkleeft, Herman S
Published in Journal of the American Chemical Society (20.08.2014)
Published in Journal of the American Chemical Society (20.08.2014)
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Journal Article
In vitro and in vivo comparative and competitive activity-based protein profiling of GH29 α-l-fucosidases
Jiang, Jianbing, Kallemeijn, Wouter W, Wright, Daniel W, van den Nieuwendijk, Adrianus M C H, Rohde, Veronica Coco, Folch, Elisa Colomina, van den Elst, Hans, Florea, Bogdan I, Scheij, Saskia, Donker-Koopman, Wilma E, Verhoek, Marri, Li, Nan, Schürmann, Martin, Mink, Daniel, Boot, Rolf G, Codée, Jeroen D C, van der Marel, Gijsbert A, Davies, Gideon J, Aerts, Johannes M F G, Overkleeft, Herman S
Published in Chemical science (Cambridge) (01.05.2015)
Published in Chemical science (Cambridge) (01.05.2015)
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Journal Article
Synthesis and evaluation of d- gluco-pyranocyclopropyl amines as potential glucosidase inhibitors
Risseeuw, Martijn D.P., van den Berg, Richard J.B.H.N., Donker-Koopman, Wilma E., van der Marel, Gijs A., Aerts, Johannes M.F.G., Overhand, Mark, Overkleeft, Herman S.
Published in Bioorganic & medicinal chemistry letters (01.12.2009)
Published in Bioorganic & medicinal chemistry letters (01.12.2009)
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Journal Article
Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3
Vedder, Anouk C., Breunig, Frank, Donker-Koopman, Wilma E., Mills, Kevin, Young, Elisabeth, Winchester, Bryan, Ten Berge, Ineke J.M., Groener, Johanna E.M., Aerts, Johannes M.F.G., Wanner, Christoph, Hollak, Carla E.M.
Published in Molecular genetics and metabolism (01.07.2008)
Published in Molecular genetics and metabolism (01.07.2008)
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