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Functional analysis of disease‐causing mutations in human UDP‐galactose 4‐epimerase

10 Nov 2005

Abstract excerpt

UDP-galactose 4-epimerase (GALE, EC 5.1.3.2) catalyses the interconversion of UDP-glucose and UDP-galactose. Point mutations in this enzyme are associated with the genetic disease, type III galactosemia, which exists in two forms - a milder, or peripheral, form and a more severe, or generalized, form. Recombinant wild-type GALE, and nine disease-causing mutations, have all been expressed in, and purified from,...

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PMID: 16302980
DOI: 10.1111/j.1742-4658.2005.05017.x

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Functional analysis of disease‐causing mutations in human UDP‐galactose 4‐epimerasePMID 16302980Read ↗

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