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MODELLING IN YEAST OF THE MITOCHONDRIAL ATP6 GENE MUTATIONS RESPONSIBLE FOR NARP SYNDROME IN HUMANS AND USES THEREOF FOR SCREENING FOR MEDICAMENTS
MODELLING IN YEAST OF THE MITOCHONDRIAL ATP6 GENE MUTATIONS RESPONSIBLE FOR NARP SYNDROME IN HUMANS AND USES THEREOF FOR SCREENING FOR MEDICAMENTS
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机译:酵母中对人类NARP综合征负责的线粒体ATP6基因突变的建模及其在药物筛选中的用途
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摘要
Modified yeast cells comprising at least one mutation of the tryptophan 136 (W136), leucine 183 (L183), or leucine 247 (L247) codon of the mitochondrial ATP6 gene, responsible for NARP syndrome in humans and uses thereof for screening for medicaments that act against mitochondrial pathologies involving a deficiency in ATP production via the oxidative phosphorylation pathway, such as NARP syndrome.
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