GeneticsbioRxivPreprint
In vivo and in vitro mechanistic characterization of a clinically relevant PolγA mutation
Pedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes…·Carlo Fiore Viscomi
This study characterizes the molecular pathogenesis of a POLG mutation by showing how it impairs POLγA function and leads to mtDNA instability through LONP1-dependent degradation.
DOI 10.1101/2020.09.10.291369