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Ex Vivo and in Vivo Effects of Isofagomine on Acid β-Glucosidase Variants and Substrate Levels in Gaucher Disease

14 Dec 2011

Abstract excerpt

Isofagomine (IFG) is an acid β-glucosidase (GCase) active site inhibitor that acts as a pharmacological chaperone. The effect of IFG on GCase function was investigated in GCase mutant fibroblasts and mouse models. IFG inhibits GCase with K(i) ∼30 nM for wild-type and mutant enzymes (N370S and V394L). Fibroblasts treated with IFG at μM concentrations showed enhancement of WT and mutant GCase activities and protein...

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PMID: 22167193
DOI: 10.1074/jbc.m111.280016

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