Blar i Bergen Open Research Archive på forfatter "Minczuk, Michal"

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    • 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 ...

    • Energetic costs of cellular and therapeutic control of stochastic mitochondrial DNA populations 

      Hoitzing, Hanne; Gammage, Payam; van Haute, Lindsey; Minczuk, Michal; Johnston, Iain; Jones, Nick (Peer reviewed; Journal article, 2019-06-26)
      The dynamics of the cellular proportion of mutant mtDNA molecules is crucial for mitochondrial diseases. Cellular populations of mitochondria are under homeostatic control, but the details of the control mechanisms involved ...