RRC ID 45696
著者 Brokate-Llanos AM, Monje JM, Murdoch Pdel S, Muñoz MJ.
タイトル Developmental defects in a Caenorhabditis elegans model for type III galactosemia.
ジャーナル Genetics
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.
巻・号 198(4)
ページ 1559-69
公開日 2014-12-1
DOI 10.1534/genetics.114.170084
PII genetics.114.170084
PMID 25298520
PMC PMC4256771
MeSH Animals Caenorhabditis elegans / embryology Caenorhabditis elegans / genetics* Caenorhabditis elegans / metabolism Caenorhabditis elegans Proteins / metabolism Disease Models, Animal Disease Susceptibility Disintegrins / metabolism Galactosemias / genetics* Galactosemias / metabolism* Hexosamines / metabolism Metabolic Networks and Pathways Metalloendopeptidases / metabolism Morphogenesis / genetics Mutation Phenotype Protein Transport Signal Transduction UDPglucose-Hexose-1-Phosphate Uridylyltransferase / deficiency UDPglucose-Hexose-1-Phosphate Uridylyltransferase / genetics Unfolded Protein Response Uridine Diphosphate Sugars / metabolism
IF 4.015
引用数 11
WOS 分野 GENETICS & HEREDITY
リソース情報
線虫 tm3267 tm267