ArticlePLoS genetics2013
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 93 papers, 2 of them syntheses that pooled it.
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Who cites it
93 citing papers in PubMed, 2 syntheses or guidelines pooled it, 158 citations in OpenAlex.
- X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.International journal of molecular sciences · 2021Pooled it
- The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.International journal of molecular sciences · 2016Pooled it
- Trial
- NovelJournal of clinical medicine · 2026Review
- Newborn screening for Fabry disease in Japan: an additional 3-year report.Molecular genetics and metabolism reports · 2026Article
- Mitochondrial stress markers associate with phenotypic variability in Fabry disease.Orphanet journal of rare diseases · 2026Article
- Fabry nephropathy as the clinical anchor for kidney-centered metabolic surveillance: linking genetic heterogeneity to early risk identification.Frontiers in genetics · 2026Review
- Simultaneous Determination of Lyso-Gb1 and Lyso-Gb3 in Plasma Using Salt-Assisted Liquid-Liquid Extraction Combined with LC-MS/MS.ACS omega · 2025Article
- Evaluation ofMolecular genetics and metabolism reports · 2025Article
- Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology.Pediatric nephrology (Berlin, Germany) · 2025Review
- Article
- Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy.Molecular genetics and metabolism reports · 2025Article
- Correlation of enzyme activities and genotype with clinical manifestations in Chinese patients of different sexes with classical and late-onset Fabry disease.Frontiers of medicine · 2025Article
- Therapeutic effects of lomerizine on vasculopathy in Fabry disease.Scientific reports · 2025Article
- Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.International journal of molecular sciences · 2025Article
- Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs.Frontiers in cardiovascular medicine · 2025Review
- Mitophagy Regulates Kidney Diseases.Kidney diseases (Basel, Switzerland) · 2024Review
- Complement System and Adhesion Molecule Skirmishes in Fabry Disease: Insights into Pathogenesis and Disease Mechanisms.International journal of molecular sciences · 2024Review
- Article
- Article
33 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease (FD) is an X-linked hereditary defect of glycosphingolipid storage caused by mutations in the gene encoding the lysosomal hydrolase α-galactosidase A (GLA, α-gal A). To date, over 400 mutations causing amino acid substitutions have been described. Most of these mutations are related to the classical Fabry phenotype. Generally in lysosomal storage disorders a reliable genotype/phenotype correlation is difficult to achieve, especially in FD with its X-linked mode of inheritance. In order to predict the metabolic consequence of a given mutation, we combined in vitro enzyme activity with in vivo biomarker data. Furthermore, we used the pharmacological chaperone (PC) 1-deoxygalactonojirimycin (DGJ) as a tool to analyse the influence of individual mutations on subcellular organelle-trafficking and stability. We analysed a significant number of mutations and correlated the obtained properties to the clinical manifestation related to the mutation in order to improve our knowledge of the identity of functional relevant amino acids. Additionally, we illustrate the consequences of different mutations on plasma lyso-globotriaosylsphingosine (lyso-Gb3) accumulation in the patients' plasma, a biomarker proven to reflect the impaired substrate clearance caused by specific mutations. The established system enables us to provide information for the clinical relevance of PC therapy for a given mutant. Finally, in order to generate reliable predictions of mutant GLA defects we compared the different data sets to reveal the most coherent system to reflect the clinical situation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.