Article

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

2020-06-19

Abstract excerpt

<h4>ABSTRACT</h4> 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 phenotyp...

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Literature Corpus work: 4824a230-2fe6-5195-8316-9c85cb9fa380
DOI: 10.1101/2020.06.18.159103

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