論文 - 詳細
RRC ID | 45696 |
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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 |