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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Neonatal hepatic steatosis by disruption of the adenosine kinase gene
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Neonatal hepatic steatosis by disruption of the adenosine kinase gene

机译:腺苷激酶基因的破坏导致新生儿肝脂肪变性

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摘要

Neonatal hepatic steatosis (OMIM 228100) is a fatal condition of unknown etiology characterized by a pale and yellow liver and early postnatal mortality. In the present study, a deficit in adenosine-dependent metabolism is proposed as a causative fac- tor. Physiologically, adenosine is efficiently metabolized to AMP by adenosine kinase (ADK), an enzyme highly expressed in liver. ADK not only ensures normal adenine nucleotide levels but also is essential for maintaining S-adenosylmethionine-dependent trans- methylation processes, where adenosine, an obligatory product, has to be constantly removed. Homozygous Adk~-/- mutants de- veloped normally during embryogenesis.
机译:新生儿肝脂肪变性(OMIM 228100)是一种病因不明的致命疾病,其特征是肝脏苍白,发黄,出生后早期死亡。在本研究中,腺苷依赖的代谢缺陷被认为是病因。在生理上,腺苷被腺苷激酶(ADK)有效地代谢为AMP,ADK是一种在肝脏中高度表达的酶。 ADK不仅可以确保正常的腺嘌呤核苷酸水平,而且对于维持S-腺苷甲硫氨酸依赖的甲基化过程至关重要,在该过程中,腺苷(一种必不可少的产物)必须不断去除。纯合的Adk〜-/-突变体在胚胎发生过程中正常发育。

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