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Chemical reversal of abnormalities in cells carrying mitochondrial DNA mutations.

Nature chemical biology - 1 Mar 2021

Kobayashi Hiroki, Hatakeyama Hideyuki, Nishimura Haruna, Yokota Mutsumi, Suzuki Sadafumi, Tomabechi Yuri, Shirouzu Mikako, Osada Hiroyuki, Mimaki Masakazu, Goto Yu-Ichi, Yoshida Minoru

Abstract excerpt

Mitochondrial DNA (mtDNA) mutations are the major cause of mitochondrial diseases. Cells harboring disease-related mtDNA mutations exhibit various phenotypic abnormalities, such as reduced respiration and elevated lactic acid production. Induced pluripotent stem cell (iPSC) lines derived from patients with mitochondrial disease, with high proportions of mutated mtDNA, exhibit defects in maturation into neurons or...

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PMID: 33168978
DOI: 10.1038/s41589-020-00676-4

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