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pro vyhledávání: '"Hadis Nafar"'
Autor:
Hadis Nafar, Brigitte Rigat, Allan C. Powe, Jessie Feng, Yi Lun, Elfrida R. Benjamin, Richie Khanna, Adriane Schilling, David J. Lockhart, Lee Pellegrino, Brian Ranes, Raphael Schiffmann, Kenneth J. Valenzano, Brandon Wustman, Don J. Mahuran, David Palling, Rebecca Soska
Publikováno v:
FEBS Journal. 277:1618-1638
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, resulti