首页> 外国专利> 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

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.

机译：修饰的酵母细胞，其至少包含线粒体ATP6基因的色氨酸136（W136），亮氨酸183（L183）或亮氨酸247（L247）密码子的突变，负责人的NARP综合征及其在筛选可起作用的药物中的用途对抗线粒体病理学，该线粒体病理学涉及通过氧化磷酸化途径的ATP生成不足，例如NARP综合征。

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公开/公告号EP2018396B1

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公开/公告日2010-10-06

原文格式PDF
申请/专利权人 UNIVERSITE VICTOR SEGALEN BORDEAUX 2;CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE;
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申请/专利号EP20070731404
发明设计人 DI RAGO JEAN-PAUL;RAK MALGORZATA;DUVEZIN-CAUBET STEPHANE;TETAUD EMMANUEL;KUCHARCZYK ROZA;
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申请日2007-05-03
分类号C07K14/395;G01N33/50;
国家 EP
入库时间 2022-08-21 18:38:04

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