gene mutations responsible for NARP syndrome in humans and uses thereof for screening for medicaments

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United States of America Patent

PATENT NO 8211690
APP PUB NO 20100021955A1
SERIAL NO

12299361

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ATTORNEY / AGENT: (SPONSORED)

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Abstract

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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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Patent Owner(s)

Patent OwnerAddress
CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE75016 PARIS CÉDEX
UNIVERSITE VICTOR SEGALEN BORDEAUX 233076 BORDEAUX CEDEX

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Inventor(s)

Inventor Name Address # of filed Patents Total Citations
Di, Rago Jean-Paul Sainte-Helene, FR 3 1
Duvezin-Caubet, Stephane Mimbaste, FR 2 0
Kucharczyk, Roza Warsaw, PL 1 0
Rak, Malgorzata Checiny, PL 1 0
Tetaud, Emmanuel Pessac, FR 1 0

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