• Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations 

      Liang, Xiao; Kristiansen, Cecilie Katrin; Mostafavi, Sepideh; Vatne, Guro H.; Zantingh, Gina; Kianian, Atefeh; Tzoulis, Charalampos; Høyland, Lena Elise; Ziegler, Mathias; Perez, Roberto Megias; Furriol, Jessica; Zhang, Zhuoyuan; Balafkan, Novin; Hong, Yu; Siller, Richard; Sullivan, Gareth; Bindoff, Laurence (Journal article; Peer reviewed, 2020)
      Mutations in POLG disrupt mtDNA replication and cause devastating diseases often with neurological phenotypes. Defining disease mechanisms has been hampered by limited access to human tissues, particularly neurons. Using ...
    • Molecular mechanisms of Charcot-Marie-Tooth neuropathy linked to mutations in human myelin protein P2 

      Ruskamo, Salla; Nieminen, Tuomo; Kristiansen, Cecilie Katrin; Vatne, Guro Helén; Baumann, Anne; Hallin, Erik Ingmar; Raasakka, Arne; Joensuu, Päivi; Bergmann, Ulrich; Vattulainen, Ilpo; Kursula, Petri (Peer reviewed; Journal article, 2017-07-26)
      Charcot-Marie-Tooth (CMT) disease is one of the most common inherited neuropathies. Recently, three CMT1-associated point mutations (I43N, T51P, and I52T) were discovered in the abundant peripheral myelin protein P2. These ...
    • Neuropathy-related mutations alter the membrane binding properties of the human myelin protein P0 cytoplasmic tail 

      Raasakka, Arne; Ruskamo, Salla; Barker, Robert; Krokengen, Oda Caspara; Vatne, Guro Helén; Kristiansen, Cecilie Katrin; Hallin, Erik Ingmar; Skoda, Maximilian W. A.; Bergmann, Ulrich; Wacklin-Knecht, Hanna; Jones, Nykola C; Hoffmann, Søren V; Kursula, Petri (Peer reviewed; Journal article, 2019-06-07)
      Schwann cells myelinate selected axons in the peripheral nervous system (PNS) and contribute to fast saltatory conduction via the formation of compact myelin, in which water is excluded from between tightly adhered lipid ...
    • Nicotinamide Riboside and Metformin Ameliorate Mitophagy Defect in Induced Pluripotent Stem Cell-Derived Astrocytes With POLG Mutations 

      Chen, Anbin; Kristiansen, Cecilie Katrin; Hong, Yu; Kianian, Atefeh; Fang, Evandro Fei; Sullivan, Gareth John; Wang, Jian; Li, X.; Bindoff, Laurence Albert; Liang, Xiao (Journal article; Peer reviewed, 2021)
      Mitophagy specifically recognizes and removes damaged or superfluous mitochondria to maintain mitochondrial homeostasis and proper neuronal function. Defective mitophagy and the resulting accumulation of damaged mitochondria ...