Article
Developmental defects in a Caenorhabditis elegans model for type III galactosemia.
Genetics - 1 Dec 2014
Brokate-Llanos Ana M, Monje José M, Murdoch Piedad Del Socorro, Muñoz Manuel J
Abstract excerpt
Type III galactosemia is a metabolic disorder caused by reduced activity of UDP-galactose-4-epimerase, which participates in galactose metabolism and the generation of various UDP-sugar species. We characterized gale-1 in Caenorhabditis elegans and found that a complete loss-of-function mutation is lethal, as has been hypothesized for humans, whereas a nonlethal partial loss-of-function allele causes a variety of...
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