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Article

Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia.

Journal of inherited metabolic disease - 1 Feb 2008

Chhay J S, Vargas C A, McCorvie T J, Fridovich-Keil J L, Timson D J

Abstract excerpt

Type III galactosaemia is a hereditary disease caused by reduced activity in the Leloir pathway enzyme, UDP-galactose 4'-epimerase (GALE). Traditionally, the condition has been divided into two forms-a mild, or peripheral, form and a severe, or generalized, form. Recently it has become apparent that there are disease states which are intermediate between these two extremes. Three mutations associated with this...

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Identifiers

PMID: 18188677
DOI: 10.1007/s10545-007-0790-9

Genes

GALE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia.PMID 18188677Read ↗

Functional analysis of disease‐causing mutations in human UDP‐galactose 4‐epimeraseSemantic proximity Read ↗

Studies of the V94M‐substituted human UDPgalactose‐4‐epimerase enzyme associated with generalized epimerase‐deficiency galactosaemiaSemantic proximity Read ↗

The metastability of human UDP-galactose 4'-epimerase (GALE) is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding.Semantic proximity Read ↗

Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.Semantic proximity Read ↗

Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.Semantic proximity Read ↗

Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE)Semantic proximity Read ↗

Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.Semantic proximity Read ↗

Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia.Semantic proximity Read ↗

Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells.Semantic proximity Read ↗

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

In vivo and in vitro function of human UDP-galactose 4'-epimerase variants.Semantic proximity Read ↗

In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia.Semantic proximity Read ↗

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