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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...
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| Publicat a: | Int J Mol Sci |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
MDPI
2021
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8234732/ https://ncbi.nlm.nih.gov/pubmed/34204583 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22126518 |
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