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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Int J Mol Sci
मुख्य लेखकों: Braunstein, Hila, Papazian, Maria, Maor, Gali, Lukas, Jan, Rolfs, Arndt, Horowitz, Mia
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: MDPI 2020
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC7583893/
https://ncbi.nlm.nih.gov/pubmed/33036426
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21197397
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