The Pharmacological Chaperone Isofagomine Increases Activity of the Gaucher Disease L444P Mutant Form of β-Glucosidase

Gaucher disease is caused by mutations in the gene that encodes the lysosomal enzyme acid β-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 ac...

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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2874831/
https://ncbi.nlm.nih.gov/pubmed/20148966
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1742-4658.2010.07588.x
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