Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat

Fabry disease, an X-linked recessive lysosomal disease, results from mutations in the GLA gene encoding lysosomal α-galactosidase A (α-Gal A). Due to these mutations, there is accumulation of globotriaosylceramide (GL-3) in plasma and in a wide range of cells throughout the body. Like other lysosoma...

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Detalles Bibliográficos
Autores principales: Braunstein, Hila, Papazian, Maria, Maor, Gali, Lukas, Jan, Rolfs, Arndt, Horowitz, Mia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7583893/
https://www.ncbi.nlm.nih.gov/pubmed/33036426
http://dx.doi.org/10.3390/ijms21197397

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7583893/
https://www.ncbi.nlm.nih.gov/pubmed/33036426
http://dx.doi.org/10.3390/ijms21197397

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