Autophagy-lysosome pathway associated neuropathology and axonal degeneration in the brains of alpha-galactosidase A-deficient mice

BACKGROUND: Mutations in the gene for alpha-galactosidase A result in Fabry disease, a rare, X-linked lysosomal storage disorder characterized by a loss of alpha-galactosidase A enzymatic activity. The resultant accumulation of glycosphingolipids throughout the body leads to widespread vasculopathy...

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Detalhes bibliográficos
Main Authors: Nelson, Michael P, Tse, Tonia E, O’Quinn, Darrel B, Percival, Stefanie M, Jaimes, Edgar A, Warnock, David G, Shacka, John J
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3933238/
https://ncbi.nlm.nih.gov/pubmed/24529306
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2051-5960-2-20
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