ReviewInternational journal of molecular sciences2021
Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease.
Review in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Generation and characterization of induced pluripotent stem cells from a patient with classic Fabry disease.Intractable & rare diseases research · 2026Article
- Bridging Biochemical and Clinical Disease Burden in Fabry Disease: A Comparative Analysis of Lyso-Gb3, MSSI, DS3, and FASTEX.International journal of molecular sciences · 2026Observational
- Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.Clinical science (London, England : 1979) · 2025Article
- Article
- Prebiotic Effects of α- and β-Galactooligosaccharides: The Structure-Function Relation.Molecules (Basel, Switzerland) · 2025Review
- Article
- Generation of an Isogenic Hereditary Hemorrhagic Telangiectasia Model via Prime Editing in Human Induced Pluripotent Stem Cells.International journal of stem cells · 2024Article
- A review and recommendations for oral chaperone therapy in adult patients with Fabry disease.Orphanet journal of rare diseases · 2024Review
- The potential consequences of bidirectional promoter methylation onBiomedical reports · 2022Article
- Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies.International journal of molecular sciences · 2022Article
- The 30-year Natural History of Non-classic Fabry Disease with an R112H Mutation.Internal medicine (Tokyo, Japan) · 2022Article
- Identification and Characterization of a Thermostable GH36 α-Galactosidase fromInternational journal of molecular sciences · 2021Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
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 proper protein folding and enzymatic activity. Currently, FD is treated by enzyme replacement therapy (ERT) or pharmacological chaperone therapy (PCT). However, as both approaches show specific drawbacks, new strategies (such as new forms of ERT, organ/cell transplant, substrate reduction therapy, or gene therapy) are under extensive study. In this review, we summarize GLA mutants described so far and discuss their putative application for the development of novel drugs for the treatment of FD. Unfavorable mutants with lower activities and stabilities than wild-type enzymes could serve as tools for the development of new pharmacological chaperones. On the other hand, GLA mutants showing improved enzymatic activity have been identified and produced in vitro. Such mutants could overcome several complications associated with current ERT, as lower-dose infusions of these mutants could achieve a therapeutic effect equivalent to that of the wild-type enzyme.
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