Metabolic rescue in pluripotent cells from patients with mtDNA disease.

doi:10.1038/nature14546

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Article

Metabolic rescue in pluripotent cells from patients with mtDNA disease.

Nature - 13 Aug 2015

Ma Hong, Folmes Clifford D L, Wu Jun, Morey Robert, Mora-Castilla Sergio, Ocampo Alejandro, Ma Li, Poulton Joanna, Wang Xinjian, Ahmed Riffat, Kang Eunju, Lee Yeonmi, Hayama Tomonari, Li Ying, Van Dyken Crystal, Gutierrez Nuria Marti, Tippner-Hedges Rebecca, Koski Amy, Mitalipov Nargiz, Amato Paula, Wolf Don P, Huang Taosheng, Terzic Andre, Laurent Louise C, Izpisua Belmonte Juan Carlos, Mitalipov Shoukhrat

Abstract excerpt

Mitochondria have a major role in energy production via oxidative phosphorylation, which is dependent on the expression of critical genes encoded by mitochondrial (mt)DNA. Mutations in mtDNA can cause fatal or severely debilitating disorders with limited treatment options. Clinical manifestations vary based on mutation type and heteroplasmy (that is, the relative levels of mutant and wild-type mtDNA within each...

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PMID: 26176921
DOI: 10.1038/nature14546

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