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The vascular dysfunction in the α-galactosidase A knockout mouse is an endothelial cell, plasma membrane-based defect
1. Fabry disease results from an X-linked mutation in the lysosomal α-galactosidase A (Gla). Defective Gla results in multi-organ accumulation of neutral glycosphingolipids (GSLs), especially in the vascular endothelium, the major accumulating GSL being globotriaosylceramide (Gb3). Excessive endothe...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2744149/ https://ncbi.nlm.nih.gov/pubmed/18565198 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1440-1681.2008.04984.x |
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