PUBLICATION

Xylose-configured cyclophellitols as selective inhibitors for glucocerebrosidase

Authors
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.
ID
ZDB-PUB-210831-12
Date
2021
Source
Chembiochem : a European journal of chemical biology   22(21): 3090-3098 (Journal)
Registered Authors
Keywords
Glucocerebrosidase (GBA), β-D-xylose-configured cyclophellitol, selective GBA inhibitor, Gaucher disease, chemical-knockout model
MeSH Terms
  • Animals
  • Cells, Cultured
  • Cyclohexanols/chemistry
  • Cyclohexanols/pharmacology*
  • Enzyme Inhibitors/chemistry
  • Enzyme Inhibitors/pharmacology*
  • Glucosylceramidase/antagonists & inhibitors*
  • Glucosylceramidase/genetics
  • Glucosylceramidase/metabolism
  • HEK293 Cells
  • Humans
  • Molecular Conformation
  • Xylose/chemistry
  • Xylose/pharmacology*
  • Zebrafish
PubMed
34459538 Full text @ Chembiochem
Abstract
Glucocerebrosidase (GBA), a lysosomal retaining β-D-glucosidase, has recently shown to hydrolyze β-D-xylosides and to transxylosylate cholesterol. Genetic defects in GBA cause the lysosomal storage disorder Gaucher disease (GD), and also constitute a risk factor for developing Parkinson's disease. GBA and other retaining glycosidases can be selectively visualized by activity-based protein profiling (ABPP) using fluorescent probes composed of a cyclophellitol scaffold having a configuration tailored to the targeted glycosidase family. GBA processes β-Dxylosides in addition to β-D-glucosides, this in contrast to the other two mammalian cellular retaining β-D-glucosidases, GBA2 and GBA3. Here we show that the xylopyranose preference also holds up for covalent inhibitors: xylose-configured cyclophellitol and cyclophellitol aziridines selectively react with GBA over GBA2 and GBA3 in vitro and in vivo , and that the xylose-configured cyclophellitol is more potent and more selective for GBA than the classical GBA inhibitor, conduritol B-epoxide (CBE). Both xyloseconfigured cyclophellitol and cyclophellitol aziridine cause accumulation of glucosylsphingosine in zebrafish embryo, a characteristic hallmark of GD, and we conclude that these compounds are well suited for creating such chemically induced GD models.
Genes / Markers
Figures
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Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping