In vivo and in vitro mechanistic characterization of a clinically relevant PolγA mutation
Pedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes, Lisa Tilokani, Anup Mishra, Raffaele Cerutti, Shuaifeng Li, Dieu Hien Ho, Sebastian Valenzuela, Anil Sukru Dogan, Bradley Peter, Patricio Fernández‐Silva, Aleksandra Trifunović, Julien Prudent, Michal A. Minczuk, , 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.
bioRxiv · Sep 10, 2020 · PreprintGenetics