Article

<i>In vivo</i> and <i>in vitro</i> mechanistic characterization of a clinically relevant PolγA mutation

2020-09-12

Abstract excerpt

Mutations in POLG , encoding POLγA, the catalytic subunit of the mitochondrial DNA polymerase, cause a spectrum of disorders characterized by mtDNA instability. However, the molecular pathogenesis of POLG -related diseases is poorly understood and efficient treatments are missing. Here, we generated a POLG A449T/A449T mouse model, which reproduces the most common human recessive mutation of POLG , encoding th...

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Literature Corpus work: 1dbdc0ea-9183-5705-8c09-3f0aa0f055d3
DOI: 10.1101/2020.09.10.291369

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