Ontology highlight
ABSTRACT:
SUBMITTER: Tropak MB
PROVIDER: S-EPMC1989145 | biostudies-literature | 2007 Feb
REPOSITORIES: biostudies-literature
Tropak Michael B MB Blanchard Jan E JE Withers Stephen G SG Brown Eric D ED Mahuran Don D
Chemistry & biology 20070201 2
The adult forms of Tay-Sachs and Sandhoff diseases result when the activity of beta-hexosaminidase A (Hex) falls below approximately 10% of normal due to decreased transport of the destabilized mutant enzyme to the lysosome. Carbohydrate-based competitive inhibitors of Hex act as pharmacological chaperones (PC) in patient cells, facilitating exit of the enzyme from the endoplasmic reticulum, thereby increasing the mutant Hex protein and activity levels in the lysosome 3- to 6-fold. To identify d ...[more]