%0 Journal Article
%A Brokate Llanos, Ana María
%A Monje, José Manuel
%A del Socorro Murdoch, Piedad
%A Muñoz Ruiz, Manuel Jesús
%T Developmental defects in a caenorhabditis elegans model for type III galactosemia
%D 2014
%U https://hdl.handle.net/10433/23795
%X 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 developmental abnormalities, likely resulting from the impairment of the glycosylation process. We also observed that gale-1 mutants are hypersensitive to galactose as well as to infections. Interestingly, we found interactions between gale-1 and the unfolded protein response.
%K Caenorhabditis elegans
%K Galactosemia type III
%K Glycosylation
%K GALE
%K Unfolded protein response
%~