A Pharmacogenetic Approach to Identify Mutant Forms of α-Galactosidase A that Respond to a Pharmacological Chaperone for Fabry Disease

Fabry disease is caused by mutations in the gene (GLA) that encodes α-galactosidase A (α-Gal A). The iminosugar AT1001 (GR181413A, migalastat hydrochloride, 1-deoxygalactonojirimycin) is a pharmacological chaperone that selectively binds and stabilizes α-Gal A, increasing total cellular levels and a...

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Detalles Bibliográficos
Autores principales: Wu, Xiaoyang, Katz, Evan, Valle, Maria Cecilia Della, Mascioli, Kirsten, Flanagan, John J, Castelli, Jeffrey P, Schiffmann, Raphael, Boudes, Pol, Lockhart, David J, Valenzano, Kenneth J, Benjamin, Elfrida R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170878/
https://www.ncbi.nlm.nih.gov/pubmed/21598360
http://dx.doi.org/10.1002/humu.21530

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170878/
https://www.ncbi.nlm.nih.gov/pubmed/21598360
http://dx.doi.org/10.1002/humu.21530

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