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The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β-glucosidase

✍ Scribed by Richie Khanna; Elfrida R. Benjamin; Lee Pellegrino; Adriane Schilling; Brigitte A. Rigat; Rebecca Soska; Hadis Nafar; Brian E. Ranes; Jessie Feng; Yi Lun; Allan C. Powe; David J. Palling; Brandon A. Wustman; Raphael Schiffmann; Don J. Mahuran; David J. Lockhart; Kenneth J. Valenzano

Book ID
111313450
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
795 KB
Volume
277
Category
Article
ISSN
1432-1327

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Pompe disease is a lysosomal storage disorder (LSD) caused by mutations in the gene that encodes acid a-glucosidase (GAA). Recently, small molecule pharmacological chaperones have been shown to increase protein stability and cellular levels for mutant lysosomal enzymes and have emerged as a new ther