C - Chemistry – Metallurgy – 12 – N
Patent
C - Chemistry, Metallurgy
12
N
C12N 1/19 (2006.01) C07K 14/395 (2006.01) C12N 1/16 (2006.01) C12N 9/14 (2006.01) C12N 15/09 (2006.01) C12Q 1/02 (2006.01) C12Q 1/68 (2006.01)
Patent
CA 2651062
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.
Cellules de levure modifiées comprenant au moins une mutation du codon tryptophane 136 (W136), leucine 183 (L183), ou leucine 247 (L247) du gène mitochondrial ATP6, responsable du syndrome NARP chez l'homme et leurs applications pour le criblage de médicaments actifs contre les pathologies mitochondriales impliquant un déficit de production d'ATP par la voie de la phosphorylation oxydative comme le syndrome NARP.
Di Rago Jean-Paul
Duvezin-Caubet Stephane
Kucharczyk Roza
Rak Malgorzata
Tetaud Emmanuel
Centre National de La Recherche Scientifique
Robic
Universite Victor Segalen - Bordeaux 2
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