发明名称 |
MODELLING IN YEAST OF THE MITOCHONDRIAL ATP6 GENE MUTATIONS RESPONSIBLE FOR NARP SYNDROME IN HUMANS AND USES THEREOF FOR SCREENING FOR MEDICAMENTS |
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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申请公布号 |
US2010021955(A1) |
申请公布日期 |
2010.01.28 |
申请号 |
US20070299361 |
申请日期 |
2007.05.03 |
申请人 |
UNIVERSITE VICTOR SEGALEN BORDEAUX 2;CENTRE NAT DE LA RECHERCHE SCIENTIFIQUE |
发明人 |
DI RAGO JEAN-PAUL;RAK MALGORZATA;KUCHARCZYK ROZA;TETAUD EMMANUEL;DUVEZIN-CAUBET STEPHANE |
分类号 |
C12Q1/02;C12N1/19 |
主分类号 |
C12Q1/02 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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