Ontology highlight
ABSTRACT:
SUBMITTER: Tropak MB
PROVIDER: S-EPMC2910749 | biostudies-literature | 2008 Nov
REPOSITORIES: biostudies-literature
Tropak Michael B MB Kornhaber Gregory J GJ Rigat Brigitte A BA Maegawa Gustavo H GH Buttner Justin D JD Blanchard Jan E JE Murphy Cecilia C Tuske Steven J SJ Coales Stephen J SJ Hamuro Yoshitomo Y Brown Eric D ED Mahuran Don J DJ
Chembiochem : a European journal of chemical biology 20081101 16
Point mutations in beta-glucocerebrosidase (GCase) can result in a deficiency of both GCase activity and protein in lysosomes thereby causing Gaucher Disease (GD). Enzyme inhibitors such as isofagomine, acting as pharmacological chaperones (PCs), increase these levels by binding and stabilizing the native form of the enzyme in the endoplasmic reticulum (ER), and allow increased lysosomal transport of the enzyme. A high-throughput screen of the 50,000-compound Maybridge library identified two, no ...[more]