Article
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase.
The FEBS journal - 1 Apr 2010
Khanna Richie, Benjamin Elfrida R, Pellegrino Lee, Schilling Adriane, Rigat Brigitte A, Soska Rebecca, Nafar Hadis, Ranes Brian E, Feng Jessie, Lun Yi, Powe Allan C, Palling David J, Wustman Brandon A, Schiffmann Raphael, Mahuran Don J, Lockhart David J, Valenzano Kenneth J
Abstract excerpt
Gaucher disease is caused by mutations in the gene that encodes the lysosomal enzyme acid beta-glucosidase (GCase). We have shown previously that the small molecule pharmacological chaperone isofagomine (IFG) binds and stabilizes N370S GCase, resulting in increased lysosomal trafficking and cellular activity. In this study, we investigated the effect of IFG on L444P GCase. Incubation of Gaucher patient-derived...
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