
Báo cáo khoa học: The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of b-glucosidase
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Gaucher disease is caused by mutations in the gene that encodes the lyso-somal enzyme acid b-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.
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