Developmental defects in a Caenorhabditis elegans model for type III galactosemia
| Autor: | Ana María Brokate-Llanos, Piedad del Socorro Murdoch, Manuel Muñoz, José Manuel Monje |
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| Přispěvatelé: | Junta de Andalucía, Ministerio de Ciencia e Innovación (España), Universidad Pablo de Olavide, Ministerio de Economía y Competitividad (España) |
| Rok vydání: | 2014 |
| Předmět: |
Galactosemias
UDPglucose-Hexose-1-Phosphate Uridylyltransferase Disintegrins Mutant Morphogenesis Investigations medicine.disease_cause chemistry.chemical_compound Genetics medicine Animals Allele Caenorhabditis elegans Caenorhabditis elegans Proteins Mutation biology Galactosemia Metalloendopeptidases Hexosamines biology.organism_classification medicine.disease Uridine Diphosphate Sugars carbohydrates (lipids) Disease Models Animal Protein Transport Phenotype chemistry Galactose Unfolded protein response Unfolded Protein Response Disease Susceptibility Metabolic Networks and Pathways Signal Transduction |
| Zdroj: | Digital.CSIC. Repositorio Institucional del CSIC instname |
| ISSN: | 1943-2631 0016-6731 |
| Popis: | 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-offunction 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. This work was supported by the Junta de Andalucía (P07-CVI-02697) and the Spanish Ministry of Science and Innovation (BFU2006-07391/BMC) and Ministry of Economy and Competitiveness (BFU2013-46923-P). A.M.B.-L. was supported by a Plan Propio de Investigación fellowship from the Universidad Pablo de Olavide. J.M.M. was supported by the Formación del personal Universitario program of the Spanish Ministry of Science and Innovation. |
| Databáze: | OpenAIRE |
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