title: Developmental defects in a Caenorhabditis elegans model for type III galactosemia.
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.
authors.affiliation: Centro Andaluz de Biología del Desarrollo, Consejo Superior de Investigaciones Científicas-Universidad Pablo de Olavide-Junta de Andalucía, 41013 Seville, Spain.
authors.forename: Ana M
authors.initials: AM
authors.lastname: Brokate-Llanos
authors.affiliation: Centro Andaluz de Biología del Desarrollo, Consejo Superior de Investigaciones Científicas-Universidad Pablo de Olavide-Junta de Andalucía, 41013 Seville, Spain.
authors.forename: José M
authors.initials: JM
authors.lastname: Monje
authors.affiliation: Departamento de Bioquímica y Biología Molecular, Facultad de Biología, Universidad de Sevilla, 41012 Seville, Spain.
authors.forename: Piedad Del Socorro
authors.initials: Pdel S
authors.lastname: Murdoch
authors.affiliation: Centro Andaluz de Biología del Desarrollo, Consejo Superior de Investigaciones Científicas-Universidad Pablo de Olavide-Junta de Andalucía, 41013 Seville, Spain mmunrui@upo.es.
authors.forename: Manuel J
authors.initials: MJ
authors.lastname: Muñoz
mesh_terms: D000818:Animals; D017173:Caenorhabditis elegans / Q000196:embryology / Q000235:genetics* / Q000378:metabolism; D029742:Caenorhabditis elegans Proteins / Q000378:metabolism; D004195:Disease Models, Animal; D004198:Disease Susceptibility; D019483:Disintegrins / Q000378:metabolism; D005693:Galactosemias / Q000235:genetics* / Q000378:metabolism*; D006595:Hexosamines / Q000378:metabolism; D053858:Metabolic Networks and Pathways; D008666:Metalloendopeptidases / Q000378:metabolism; D009024:Morphogenesis / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D021381:Protein Transport; D015398:Signal Transduction; D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency / Q000235:genetics; D056811:Unfolded Protein Response; D014539:Uridine Diphosphate Sugars / Q000378:metabolism
chemical_list: D029742:Caenorhabditis elegans Proteins; D019483:Disintegrins; D006595:Hexosamines; C410348:MIG-17 protein, C elegans; D014539:Uridine Diphosphate Sugars; D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase; D008666:Metalloendopeptidases
keywords: Caenorhabditis elegans; GALE; galactosemia type III; glycosylation; unfolded protein response