• Comparing the mitochondrial signatures in ESCs and iPSCs and their neural derivations 

      Kristiansen, Cecilie Katrin; Chen, Anbin; Høyland, Lena Elise; Ziegler, Mathias; Sullivan, Gareth John; Bindoff, Laurence Albert; Liang, Kristina Xiao (Journal article; Peer reviewed, 2022)
      Embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) have distinct origins: ESCs are derived from pre-implanted embryos while iPSCs are reprogrammed somatic cells. Both have their own characteristics and ...
    • Deoxyribonucleoside treatment rescues EtBr-induced mtDNA depletion in iPSC-derived neural stem cells with POLG mutations 

      Kristiansen, Cecilie Katrin; Furriol, Jessica; Chen, Anbin; Sullivan, Gareth John; Bindoff, Laurence Albert; Liang, Xiao (Journal article; Peer reviewed, 2023)
      Mutations in POLG, the gene encoding the catalytic subunit of the mitochondrial DNA (mtDNA) polymerase gamma (Pol-γ), lead to diseases driven by defective mtDNA maintenance. Despite being the most prevalent cause of ...
    • 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 ...
    • POLG genotype influences degree of mitochondrial dysfunction in iPSC derived neural progenitors, but not the parent iPSC or derived glia 

      Hong, Yu; Kristiansen, Cecilie Katrin; Chen, Anbin; Sanchez Nido, Gonzalo; Høyland, Lena Elise; Ziegler, Mathias; Sullivan, Gareth John; Bindoff, Laurence Albert; Liang, Xiao (Journal article; Peer reviewed, 2023)
      Diseases caused by POLG mutations are the most common form of mitochondrial diseases and associated with phenotypes of varying severity. Clinical studies have shown that patients with compound heterozygous POLG mutations ...
    • POLG mutations lead to abnormal mitochondrial remodeling during neural differentiation of human pluripotent stem cells via SIRT3/AMPK pathway inhibition 

      Chen, Anbin; Kristiansen, Cecilie Katrin; Høyland, Lena Elise; Ziegler, Mathias; Wang, Jian; Sullivan, Gareth John; Li, Xingang; Bindoff, Laurence Albert; Liang, Xiao (Journal article; Peer reviewed, 2022)
      We showed previously that POLG mutations cause major changes in mitochondrial function, including loss of mitochondrial respiratory chain (MRC) complex I, mitochondrial DNA (mtDNA) depletion and an abnormal NAD+/NADH ratio ...