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Article

Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.

Biochimica et biophysica acta - 1 Oct 2012

McCorvie Thomas J, Liu Ying, Frazer Andrew, Gleason Tyler J, Fridovich-Keil Judith L, Timson David J

Abstract excerpt

Deficiency of UDP-galactose 4'-epimerase is implicated in type III galactosemia. Two variants, p.K161N-hGALE and p.D175N-hGALE, have been previously found in combination with other alleles in patients with a mild form of the disease. Both variants were studied in vivo and in vitro and showed different levels of impairment. p.K161N-hGALE was severely impaired with substantially reduced enzymatic activity,...

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Identifiers

PMID: 22613355
DOI: 10.1016/j.bbadis.2012.05.007
PMCID: PMC3418473

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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