Article
The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms.
Proceedings of the National Academy of Sciences of the United States of America - 12 Sept 2006
Steet Richard A, Chung Stephen, Wustman Brandon, Powe Allan, Do Hung, Kornfeld Stuart A
Abstract excerpt
Gaucher disease is a lysosomal storage disorder caused by deficiency in lysosomal acid beta-glucosidase (GlcCerase), the enzyme responsible for the catabolism of glucosylceramide. One of the most prevalent disease-causing mutations, N370S, results in an enzyme with lower catalytic activity and impaired exit from the endoplasmic reticulum. Here, we report that the iminosugar isofagomine (IFG), an active-site...
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