• DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion 

      Silva-Pinheiro, Pedro; Pardo-Hernández, Carlos; Reyes, Aurelio; Tilokani, Lisa; Mishra, Anup; Cerutti, Raffaele; Li, Shuaifeng; Rozsivalova, Dieu-Hien; Valenzuela, Sebastian; Dogan, Sukru A.; Peter, Bradley; Fernández-Silva, Patricio; Trifunovic, Aleksandra; Prudent, Julien; Minczuk, Michal; Bindoff, Laurence Albert; Macao, Bertil; Zeviani, Massimo; Falkenberg, Maria; Viscomi, Carlo (Journal article; Peer reviewed, 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 ...
    • Role of pitrm1 in mitochondrial dysfunction and neurodegeneration 

      Brunetti, Dario; Catania, Alessia; Viscomi, Carlo; Deleidi, Michela; Bindoff, Laurence Albert; Ghezzi, Daniele; Zeviani, Massimo (Journal article; Peer reviewed, 2021)
      Mounting evidence shows a link between mitochondrial dysfunction and neurodegenerative disorders, including Alzheimer Disease. Increased oxidative stress, defective mitodynamics, and impaired oxidative phosphorylation ...