Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice

Fabry disease is an X-linked lysosomal storage disorder (LSD) caused by mutations in the gene (GLA) that encodes the lysosomal hydrolase α-galactosidase A (α-Gal A), and is characterized by pathological accumulation of the substrate, globotriaosylceramide (GL-3). Regular infusion of recombinant huma...

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Main Authors: Benjamin, Elfrida R, Khanna, Richie, Schilling, Adriane, Flanagan, John J, Pellegrino, Lee J, Brignol, Nastry, Lun, Yi, Guillen, Darlene, Ranes, Brian E, Frascella, Michelle, Soska, Rebecca, Feng, Jessie, Dungan, Leo, Young, Brandy, Lockhart, David J, Valenzano, Kenneth J
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2012
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Original Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3321591/
https://ncbi.nlm.nih.gov/pubmed/22215019
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/mt.2011.271
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