DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion.
Pedro Silva-Pinheiro,
Carlos Pardo-Hernández,
Aurelio Reyes,
Lisa Tilokani,
Anup Mishra,
Raffaele Cerutti,
Shuaifeng Li,
Dieu-Hien Rozsivalova,
Sebastian Valenzuela,
Sukru A Dogan,
Bradley Peter,
Patricio Fernández-Silva,
Aleksandra Trifunovic,
Julien Prudent,
Michal Minczuk,
Laurence Bindoff,
Bertil Macao,
Massimo Zeviani,
Maria Falkenberg,
Carlo Viscomi
Jun 25, 2021
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...