ArticleBiochimie2011
In vivo and in vitro function of human UDP-galactose 4'-epimerase variants.
Article in Biochimie, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 20 citations in OpenAlex.
- Design rules for bioorthogonal glycan-based tools.The Biochemical journal · 2026Review
- Discovery of cell-active small molecule inhibitors of UDP-galactose 4'-epimerase.bioRxiv : the preprint server for biology · 2026Article
- Molecular characterisation of Entamoeba histolytica UDP-glucose 4-epimerase, an enzyme able to provide building blocks for cyst wall formation.PLoS neglected tropical diseases · 2023Article
- Galactosemia: Towards Pharmacological Chaperones.Journal of personalized medicine · 2021Review
- Metabolic precision labeling enables selective probing of O-linkedProceedings of the National Academy of Sciences of the United States of America · 2020Article
- GALE Promotes the Proliferation and Migration of Glioblastoma Cells and Is Regulated by miR-let-7i-5p.Cancer management and research · 2019Article
- Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).Human molecular genetics · 2019Article
- UDP-galactose 4'-epimerase from the liver fluke, Fasciola hepatica: biochemical characterization of the enzyme and identification of inhibitors.Parasitology · 2015Article
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- Article
- Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.Biochimica et biophysica acta · 2013Article
- A calcium-dependent interaction between calmodulin and the calponin homology domain of human IQGAP1.Molecular and cellular biochemistry · 2012Article
- Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.Biochimica et biophysica acta · 2012Article
- The molecular dynamics of Trypanosoma brucei UDP-galactose 4'-epimerase: a drug target for African sleeping sickness.Chemical biology & drug design · 2012Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
Type III galactosemia results from reduced activity of the enzyme UDP-galactose 4'-epimerase. Five disease-associated alleles (G90E, V94M, D103G, N34S and L183P) and three artificial alleles (Y105C, N268D, and M284K) were tested for their ability to alleviate galactose-induced growth arrest in a Saccharomyces cerevisiae strain which lacks endogenous UDP-galactose 4'-epimerase. For all of these alleles, except M284K, the ability to alleviate galactose sensitivity was correlated with the UDP-galactose 4'-epimerase activity detected in cell extracts. The M284K allele, however, was able to substantially alleviate galactose sensitivity, but demonstrated near-zero activity in cell extracts. Recombinant expression of the corresponding protein in Escherichia coli resulted in a protein with reduced enzymatic activity and reduced stability towards denaturants in vitro. This lack of stability may result from the introduction of an unpaired positive charge into a bundle of three α-helices near the surface of the protein. The disparities between the in vivo and in vitro data for M284K-hGALE further suggest that there are additional, stabilising factors present in the cell. Taken together, these results reinforce the need for care in the interpretation of in vitro, enzymatic diagnostic tests for type III galactosemia.
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Registered trials
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