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Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease
Fabry disease (FD) is a lysosomal storage disease caused by mutations in the gene for the α-galactosidase A (GLA) enzyme. The absence of the enzyme or its activity results in the accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3), in different tissues, leading to a wide range of...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8234732/ https://www.ncbi.nlm.nih.gov/pubmed/34204583 http://dx.doi.org/10.3390/ijms22126518 |