Screening for Pharmacological Chaperones in Fabry Disease

As a prerequisite for full clinical trials of pharmacological chaperone therapy (PCT) for Fabry disease we developed a rapid screening assay for enhancement of endogenous α-galactosidase A (α-Gal A) in patient-derived cells. We used a T-cell based system to screen 11 mutations causing Fabry disease...

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Autores principales: Shin, Sang-Hoon, Murray, Gary J., Kluepfel-Stahl, Stefanie, Cooney, Adele M., Quirk, Jane M., Schiffmann, Raphael, Brady, Roscoe O., Kaneski, Christine R.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2007
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2729584/
https://ncbi.nlm.nih.gov/pubmed/17532296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbrc.2007.05.082
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