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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Wiley Subscription Services, Inc., A Wiley Company 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3170878/
https://ncbi.nlm.nih.gov/pubmed/21598360
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21530
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados