Developmental Defects in a Caenorhabditis elegans Model for Type III Galactosemia |
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Authors: | Ana M Brokate-Llanos José M Monje Piedad del Socorro Murdoch Manuel J Mu?oz |
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Institution: | *Centro Andaluz de Biología del Desarrollo, Consejo Superior de Investigaciones Científicas–Universidad Pablo de Olavide–Junta de Andalucía, 41013 Seville, Spain;†Departamento de Bioquímica y Biología Molecular, Facultad de Biología, Universidad de Sevilla, 41012 Seville, Spain |
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Abstract: | 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. |
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Keywords: | Caenorhabditis elegans galactosemia type III glycosylation GALE unfolded protein response |
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