Article
Molecular basis of reduced glucosylceramidase activity in the most common Gaucher disease mutant, N370S.
The Journal of biological chemistry - 31 Dec 2010
Offman Marc N, Krol Marcin, Silman Israel, Sussman Joel L, Futerman Anthony H
Abstract excerpt
Gaucher disease is caused by the defective activity of the lysosomal hydrolase, glucosylceramidase. Although the x-ray structure of wild type glucosylceramidase has been resolved, little is known about the structural features of any of the >200 mutations. Various treatments for Gaucher disease are available, including enzyme replacement and chaperone therapies. The latter involves binding of competitive...
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