• Association between the number of CAG repeats in polymerase gamma and Parkinson disease in the Norwegian population 

      Balafkan, Novin (Master thesis, 2012-06-01)
      Parkinson disease (PD) is a common neurodegenerative movement disorder that increases in prevalence with age. It is characterized clinically by resting tremor, rigidity, bradykinesia, and failing balance, and is due to the ...
    • 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 ...
    • Distinct Mitochondrial Remodeling During Mesoderm Differentiation in a Human-Based Stem Cell Model 

      Mostafavi, Sepideh; Balafkan, Novin; Pettersen, Ina Katrine Nitschke; Nido, Gonzalo Sanchez; Siller, Richard; Tzoulis, Charalampos; Sullivan, Gareth John; Bindoff, Laurence Albert (Journal article; Peer reviewed, 2021-10-14)
      Given the considerable interest in using stem cells for modeling and treating disease, it is essential to understand what regulates self-renewal and differentiation. Remodeling of mitochondria and metabolism, with the shift ...
    • A method for dierentiating human induced pluripotent stem cells toward functional cardiomyocytes in 96‐well microplates 

      Balafkan, Novin; Mostafavi, Sepideh; Schubert, Manja; Siller, Richard; Liang, Xiao; Sullivan, Gareth; Bindoff, Laurence (Journal article; Peer reviewed, 2020)
      The capacity of pluripotent stem cells both for self-renewal and to differentiate into any cell type have made them a powerful tool for studying human disease. Protocols for efficient differentiation towards cardiomyocytes ...
    • Mitochondrial DNA depletion in sporadic inclusion body myositis 

      Bhatt, Padmanabh S.; Tzoulis, Charalampos; Balafkan, Novin; Miletic, Hrvoje; Tran, Gia Tuong Thi; Sanaker, Petter Schandl; Bindoff, Laurence (Peer reviewed; Journal article, 2019)
      Sporadic inclusion body myositis (sIBM) is a late onset disorder of unkown aetiology. Mitochondrial changes such as cytochrome oxidase deficient fibres are a well recognised feature and mitochondrial DNA (mtDNA) deletions ...
    • Molecular pathogenesis of polymerase gamma-related neurodegeneration 

      Tzoulis, Charalampos; Tran, Gia Tuong Thi; Coxhead, Jonathan; Bertelsen, Bjørn; Lilleng, Peer Kåre; Balafkan, Novin; Payne, Brendan; Miletic, Hrvoje; Chinnery, Patrick F.; Bindoff, Laurence (Peer reviewed; Journal article, 2014-07)
      Objective: Polymerase gamma (POLG) mutations are a common cause of mitochondrial disease and have also been linked to neurodegeneration and aging. We studied the molecular mechanisms underlying POLG-related neurodegeneration ...