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Article

Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease.

International journal of molecular sciences - 17 Jun 2021

Modrego Andrea, Amaranto Marilla, Godino Agustina, Mendoza Rosa, Barra José Luis, Corchero José Luis

Abstract excerpt

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 clinical manifestations. More than 1000 natural variants have been described in the GLA gene, most of them affecting...

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Identifiers

PMID: 34204583
DOI: 10.3390/ijms22126518
PMCID: PMC8234732

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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