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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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主要な著者: | , , , , , , |
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フォーマット: | Artigo |
言語: | Inglês |
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BioMed Central
2014
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オンライン・アクセス: | 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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