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

Autor: Gali Maor, Maria Papazian, Jan Lukas, Arndt Rolfs, Mia Horowitz, Hila Braunstein

Publikováno v: International Journal of Molecular Sciences
Volume 21
Issue 19
International Journal of Molecular Sciences, Vol 21, Iss 7397, p 7397 (2020)

Fabry disease, an X-linked recessive lysosomal disease, results from mutations in the GLA gene encoding lysosomal &alpha
galactosidase A (&alpha
Gal A). Due to these mutations, there is accumulation of globotriaosylceramide (GL-3) in plasma

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