Developmental defects in a Caenorhabditis elegans model for type III galactosemia.

Autor:	Brokate-Llanos AM; Centro Andaluz de Biología del Desarrollo, Consejo Superior de Investigaciones Científicas-Universidad Pablo de Olavide-Junta de Andalucía, 41013 Seville, Spain., Monje JM; Centro Andaluz de Biología del Desarrollo, Consejo Superior de Investigaciones Científicas-Universidad Pablo de Olavide-Junta de Andalucía, 41013 Seville, Spain., Murdoch Pdel S; Departamento de Bioquímica y Biología Molecular, Facultad de Biología, Universidad de Sevilla, 41012 Seville, Spain., Muñoz MJ; Centro Andaluz de Biología del Desarrollo, Consejo Superior de Investigaciones Científicas-Universidad Pablo de Olavide-Junta de Andalucía, 41013 Seville, Spain mmunrui@upo.es.
Jazyk:	angličtina
Zdroj:	Genetics [Genetics] 2014 Dec; Vol. 198 (4), pp. 1559-69. Date of Electronic Publication: 2014 Oct 08.
DOI:	10.1534/genetics.114.170084
Abstrakt:	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. (Copyright © 2014 by the Genetics Society of America.)
Databáze:	MEDLINE
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