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Article

Constitutive activation of the PI3K-Akt-mTORC1 pathway sustains the m.3243 A > G mtDNA mutation.

Nature communications - 4 Nov 2021

Chung Chih-Yao, Singh Kritarth, Kotiadis Vassilios N, Valdebenito Gabriel E, Ahn Jee Hwan, Topley Emilie, Tan Joycelyn, Andrews William D, Bilanges Benoit, Pitceathly Robert D S, Szabadkai Gyorgy, Yuneva Mariia, Duchen Michael R

Abstract excerpt

Mutations of the mitochondrial genome (mtDNA) cause a range of profoundly debilitating clinical conditions for which treatment options are very limited. Most mtDNA diseases show heteroplasmy - tissues express both wild-type and mutant mtDNA. While the level of heteroplasmy broadly correlates with disease severity, the relationships between specific mtDNA mutations, heteroplasmy, disease phenotype and severity are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34737295
DOI: 10.1038/s41467-021-26746-2
PMCID: PMC8568893

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