GO_REF:0000002
Gene Ontology annotation through association of InterPro records with GO terms
GO_REF:0000024
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
GO_REF:0000033
Annotation inferences using phylogenetic trees
GO_REF:0000117
Electronic Gene Ontology annotations created by ARBA machine learning models
GO_REF:0000120
Combined Automated Annotation using Multiple IEA Methods
PMID:10838196
Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
PMID:1332979
Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion.
PMID:16372133
Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice.
PMID:2160973
Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.
PMID:21949853
Receptor-mediated endocytosis of α-galactosidase A in human podocytes in Fabry disease.
PMID:23533145
In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
PMID:27211852
A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family.
PMID:3029062
Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease.
PMID:33961781
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
PMID:36115835
Quantitative fragmentomics allow affinity mapping of interactomes.
PMID:39940
Studies on human liver alpha-galactosidases. I. Purification of alpha-galactosidase A and its enzymatic properties with glycolipid and oligosaccharide substrates.
PMID:40205054
Multimodal cell maps as a foundation for structural and functional genomics.
PMID:6256390
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.
PMID:6313412
ConA-mediated binding and uptake of purified alpha-galactosidase A in Fabry fibroblasts.
PMID:7911050
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
PMID:8804427
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.
Reactome:R-HSA-1605736
GLA hydrolyzes PSAP(195-273):Gb3Cer:PE
Reactome:R-HSA-6798751
Exocytosis of azurophil granule lumen proteins
Reactome:R-HSA-9841189
GLA hydrolyzes PSAP(195-273):Gal2Cer:PE
PMID:15003450
The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
file:human/GLA/GLA-notes.md
Curator notes on GLA GO annotation review
file:human/GLA/GLA-deep-research-falcon.md
Falcon deep research on human GLA / alpha-galactosidase A
file:human/GLA/GLA-uniprot.txt
UniProtKB record for human GLA / alpha-galactosidase A