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US08211690B2 Modelling in yeast of the mitochondrial ATP6 gene mutations responsible for NARP syndrome in humans and uses thereof for screening for medicaments 失效
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

Modelling in yeast of the mitochondrial ATP6 gene mutations responsible for NARP syndrome in humans and uses thereof for screening for medicaments
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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