ArticleAmerican journal of human genetics1997
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 66 citations in OpenAlex.
- A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.Human molecular genetics · 2023Article
- Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.Cell biochemistry and biophysics · 2021Article
- Biallelic GALM pathogenic variants cause a novel type of galactosemia.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).Human molecular genetics · 2019Article
- Article
- A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4'-epimerase (GALE) : A Complex Case of Variant GALE.JIMD reports · 2013Article
- Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.Biochimica et biophysica acta · 2012Article
- UDP-galactose 4'-epimerase activities toward UDP-Gal and UDP-GalNAc play different roles in the development of Drosophila melanogaster.PLoS genetics · 2012Article
- UDP-glucose 4, 6-dehydratase activity plays an important role in maintaining cell wall integrity and virulence of Candida albicans.PLoS pathogens · 2011Article
- Article
- Galactose toxicity in animals.IUBMB life · 2009Review
- Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia.Journal of inherited metabolic disease · 2008Article
- Epimerase-deficiency galactosemia is not a binary condition.American journal of human genetics · 2006Article
- Towards a better understanding of the substrate specificity of the UDP-N-acetylglucosamine C4 epimerase WbpP.The Biochemical journal · 2005Article
- Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia.Journal of inherited metabolic disease · 2000Article
- UDPgalactose epimerase in lens and fibroblasts: activity expression in patients with cataracts and mental retardation.Journal of inherited metabolic disease · 2000Article
- Article
- Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.American journal of human genetics · 1999Article
- Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.Journal of inherited metabolic disease · 1998Article
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6 authors at 2 institutions in 1 country.
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Abstract
UDP-galactose-4-epimerase (GALE) is a highly conserved enzyme that catalyzes the interconversion of UDP-galactose and UDP-glucose. Impairment of this enzyme in humans results in one of two clinically distinct forms of epimerase-deficiency galactosemia-one benign, the other severe. The molecular and biochemical distinction between these disorders remains unknown. To enable structural and functional studies of both wild-type and patient-derived alleles of human GALE (hGALE), we have developed and applied a null-background yeast expression system for the human enzyme. We have demonstrated that wild-type hGALE sequences phenotypically complement a yeast gal10 deletion, and we have biochemically characterized the wild-type human enzyme isolated from these cells. Furthermore, we have expressed and characterized two mutant alleles, L183P-hGALE and N34S-hGALE, both derived from a patient with no detectable GALE activity in red blood cells but with approximately 14% activity in cultured lymphoblasts. Analyses of crude extracts of yeast expressing L183P-hGALE demonstrated 4% wild-type activity and 6% wild-type abundance. Extracts of yeast expressing N34S-hGALE demonstrated approximately 70% wild-type activity and normal abundance. However, yeast coexpressing both L183P-hGALE and N34S-hGALE exhibited only approximately 7% wild-type levels of activity, thereby confirming the functional impact of both substitutions and raising the intriguing possibility that some form of dominant-negative interaction may exist between the mutant alleles found in this patient. The results reported here establish the utility of the yeast-based hGALE-expression system and set the stage for more-detailed studies of this important enzyme and its role in epimerase-deficiency galactosemia.
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