Invention Grant
US08211690B2 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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在人类中负责NARP综合征的线粒体ATP6基因突变的酵母中的建模及其用于筛选药物的用途
- Patent Title: Modelling in yeast of the mitochondrial ATP6 gene mutations responsible for NARP syndrome in humans and uses thereof for screening for medicaments
- Patent Title (中): 在人类中负责NARP综合征的线粒体ATP6基因突变的酵母中的建模及其用于筛选药物的用途
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Application No.: US12299361Application Date: 2007-05-03
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Publication No.: US08211690B2Publication Date: 2012-07-03
- Inventor: Jean-Paul Di Rago , Malgorzata Rak , Roza Kucharczyk , Emmanuel Tetaud , Stephane Duvezin-Caubet
- Applicant: Jean-Paul Di Rago , Malgorzata Rak , Roza Kucharczyk , Emmanuel Tetaud , Stephane Duvezin-Caubet
- Applicant Address: FR Bordeaux FR Paris
- Assignee: Universite Victor Segalen Bordeaux 2,Centre National de la Recherche Scientifique
- Current Assignee: Universite Victor Segalen Bordeaux 2,Centre National de la Recherche Scientifique
- Current Assignee Address: FR Bordeaux FR Paris
- Agency: Oblon, Spivak, McClelland, Maier & Neustadt, L.L.P.
- Priority: FR0603934 20060503
- International Application: PCT/FR2007/000757 WO 20070503
- International Announcement: WO2007/125225 WO 20071108
- Main IPC: C12N1/00
- IPC: C12N1/00 ; C12N15/70

Abstract:
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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