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

doi:10.3390/ijms22126518

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

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...

Topics

Alleles
Animals
Combined Modality Therapy
Disease Management
Enzyme Activation
Fabry Disease
Genetic Predisposition to Disease
Humans
Mutation
Structure-Activity Relationship
Treatment Outcome
alpha-Galactosidase

Source

Open in PubMed Open full text

Identifiers

PMID: 34204583
DOI: 10.3390/ijms22126518
PMCID: PMC8234732

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics