GALE Antibody

1. Mutation in UDP-galactose-4'-epimerase gene is associated with UDP-galactose-4'-epimerase deficiency. PMID: 26565537
2. Data show the protein structure of GALE and its substrate binding and specificity. It is mutated in type III galactosemia. [review] PMID: 26162744
3. human UDP-galactose 4'-epimerase stability is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding PMID: 25150110
4. These data indicated a critical role of GALE in maintaining cartilage homeostasis, and suggested that GALE inhibition might contribute to OA progress. PMID: 25201731
5. GALE variants can be arranged into three groups depending on the severity of enzyme impairment. PMID: 23644136
6. P.K161N-hGALE causes its effects by abolishing an important interaction between the protein and the cofactor. PMID: 22613355
7. study of hGALE crystal structure and demonstration that residue 307 acts as a gatekeeper mediating substrate access to the hGALE active site PMID: 15175331
8. Resulst describe the relationship among UDP-galactose 4'-epimerase activity, substrate specificity, metabolic balance, and galactose sensitivity in mammalian cells. PMID: 15701638
9. Data suggest that reduced catalytic efficiency and increased proteolytic susceptibility of UDP-galactose 4-epimerase are causative factors in type III galactosemia. PMID: 16302980
10. Subtle biochemical and metabolic abnormalities detected in patients expressing these GALE alleles likely reflect, at least in part, the reduced enzymatic activity of the encoded GALE proteins. PMID: 18188677
11. Our observations show that altered protein stability is due to misfolding and that loss or reduction of enzyme activity is responsible for the molecular defects underlying GALE-deficiency galactosemia. PMID: 19250319
12. Disease-causing mutations result in a variety of changes to the steady-state parameters. Mostly these are changes in turnover number, kcat. The ability to dimerize is not affected, but some mutants have increased sensitivity to protease digestion. PMID: 16302980

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HGNC: 4116

OMIM: 230350

KEGG: hsa:2582

STRING: 9606.ENSP00000363621

UniGene: Hs.632380