Article
Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models.
Angewandte Chemie (International ed. in English) - 19 Sept 2022
Santana Andrés G, Robinson Kyle, Vickers Chelsea, Deen Matthew C, Chen Hong-Ming, Zhou Stephen, Dai Ben, Fuller Maria, Boraston Alisdair B, Vocadlo David J, Clarke Lorne A, Withers Stephen G
Abstract excerpt
Gaucher disease is a lysosomal storage disorder caused by mutations which destabilize the native folded form of GCase, triggering degradation and ultimately resulting in low enzyme activity. Pharmacological chaperones (PCs) which stabilize mutant GCase have been used to increase lysosomal activity through improving trafficking efficiency. By engineering their inherent basicity, we have synthesized PCs that change...
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