• 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 ...
    • 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 ...