Studies on human liver alpha-galactosidases. I. Purification of alpha-galactosidase A and its enzymatic properties with glycolipid and oligosaccharide substrates.
Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.
Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion.
An atypical variant of Fabry's disease with manifestations confined to the myocardium.
A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.
Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
Nucleotide sequence of the human alpha-galactosidase A gene.
Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.
A genomic clone containing the promoter for the gene encoding the human lysosomal enzyme, alpha-galactosidase A.
Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.
Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease.
Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A.
Affinity purification of alpha-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other forms.
ConA-mediated binding and uptake of purified alpha-galactosidase A in Fabry fibroblasts.
Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion.
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.
Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci.
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
Mutation analysis in patients with the typical form of Anderson-Fabry disease.
Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
Only sphingolipid activator protein B (SAP-B or saposin B) stimulates the degradation of globotriaosylceramide by recombinant human lysosomal alpha-galactosidase in a detergent-free liposomal system.
A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.
Novel trinucleotide deletion in Fabry's disease.
Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.
Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.
Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease.
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.
A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.
Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
Mutation analysis in 11 French patients with Fabry disease.
Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online.
The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
Identification of four novel mutations in five unrelated Korean families with Fabry disease.
Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.
Fabry disease: 20 novel GLA mutations in 35 families.
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
Remarkable variability in renal disease in a large Slovenian family with Fabry disease.
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency.
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
The DNA sequence of the human X chromosome.
Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice.
Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome.
Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).
Initial characterization of the human central proteome.
Receptor-mediated endocytosis of α-galactosidase A in human podocytes in Fabry disease.
In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
N-terminome analysis of the human mitochondrial proteome.
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
Quantitative fragmentomics allow affinity mapping of interactomes.
Author Correction: Quantitative fragmentomics allow affinity mapping of interactomes.
Multimodal cell maps as a foundation for structural and functional genomics.
Publisher Correction: Multimodal cell maps as a foundation for structural and functional genomics.
Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
GLA hydrolyzes PSAP(195-273):Gb3Cer:PE
Exocytosis of azurophil granule lumen proteins
Glycosphingolipid catabolism
GLA hydrolyzes PSAP(195-273):Gal2Cer:PE
Curator notes on GLA GO annotation review
Falcon deep research on human GLA / alpha-galactosidase A
UniProtKB record for human GLA / alpha-galactosidase A
GLA evidence scope and preserved curation provenance