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Article

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

Biochimie - 1 Oct 2011

McCorvie Thomas J, Wasilenko Jamie, Liu Ying, Fridovich-Keil Judith L, Timson David J

Abstract excerpt

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...

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Identifiers

PMID: 21703329
DOI: 10.1016/j.biochi.2011.06.009
PMCID: PMC3168732

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