Discover Community Create You

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

Article

Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele.

Journal of inherited metabolic disease - 1 Sept 1997

Fitzmaurice T F, Desnick R J, Bishop D F

Abstract excerpt

Human alpha-galactosidase A (EC 3.2.1.22; alpha-Gal A) is the lysosomal exoglycosidase responsible for the hydrolysis of terminal alpha-galactosyl residues from glycoconjugates and is the defective enzyme causing Fabry disease (McKusick 301500). An unusally elevated level of plasma alpha-Gal A activity (> 2.5 times the normal mean) was detected in two unrelated normal males and the elevated activities were...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to alpha-Galactosidase
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Mutation

Share to Nucleic Acid Hybridization

Share to Protein Biosynthesis

Share to Transcription, Genetic

Source

Identifiers

PMID: 9323559
DOI: 10.1023/a:1005366224351

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele.PMID 9323559Read ↗

A mutation in the 5' untranslated region of the human alpha-galactosidase A gene in high-activity variants inhibits specific protein binding.Semantic proximity Read ↗

Fabry disease: D313Y is an α-galactosidase A sequence variant that causes pseudodeficient activity in plasmaSemantic proximity Read ↗

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.Semantic proximity Read ↗

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.Semantic proximity Read ↗

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.Semantic proximity Read ↗

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.Semantic proximity Read ↗

A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry DiseaseSemantic proximity Read ↗

A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.Semantic proximity Read ↗

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.Semantic proximity Read ↗

Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.Semantic proximity Read ↗

Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.Semantic proximity Read ↗

c.640-814T>C mutation in deep intronic region of alpha-galactosidase A gene is associated with Fabry disease via dominant-negative effect.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.