Browsing Bergen Open Research Archive by Author "Bindoff, Laurence Albert"

Now showing items 1-20 of 22

    • Activation of Neurotoxic Astrocytes Due to Mitochondrial Dysfunction Triggered by POLG Mutation 

      Liang, Xiao; Chen, Anbin; Kianian, Atefeh; Kristiansen, Cecilie Katrin; Tsering Yangzom, Tsering Yangzom; Furriol Palmer, Jessica; Høyland, Lena Elise; Ziegler, Mathias; Kråkenes, Torbjørn; Tzoulis, Charalampos; Fang, Fei; Sullivan, Gareth John; Bindoff, Laurence Albert (Journal article; Peer reviewed, 2024)
      Mitochondrial diseases are associated with neuronal death and mtDNA depletion. Astrocytes respond to injury or stimuli and damage to the central nervous system. Neurodegeneration can cause astrocytes to activate and acquire ...

    • Chip protein U-box domain truncation affects Purkinje neuron morphology and leads to behavioral changes in zebrafish 

      Pakdaman, Yasaman; Denker, Elsa; Austad, Eirik; Norton, William H.J.; Rolfsnes, Hans Olav; Bindoff, Laurence Albert; Tzoulis, Charalampos; Aukrust, Ingvild; Knappskog, Per Morten; Johansson, Stefan; Ellingsen, Ståle (Journal article; Peer reviewed, 2021-09-24)
      The ubiquitin ligase CHIP (C-terminus of Hsc70-interacting protein) is encoded by STUB1 and promotes ubiquitination of misfolded and damaged proteins. CHIP deficiency has been linked to several diseases, and mutations in ...

    • 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 ...

    • 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 ...

    • 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 ...

    • Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020) 

      Jensen, Synnøve; Müller, Kai Ivar; Mellgren, Svein Ivar; Bindoff, Laurence Albert; Rasmussen, Magnhild; Ørstavik, Kristin; Jonsrud, Christoffer; Tveten, Kristian; Nilssen, Øivind; Van Ghelue, Marijke; Arntzen, Kjell Arne (Journal article; Peer reviewed, 2022)
      We aimed to investigate the epidemiology and natural history of FKRP-related limb-girdle muscular dystrophy R9 (LGMDR9) in Norway. We identified 153 genetically confirmed subjects making the overall prevalence 2.84/100,000, ...

    • Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study 

      Kristensen, Erle; Mathisen, Linda; Berland, Siren; Klingenberg, Claus Andreas; Brodtkorb, Eylert; Rasmussen, Magnhild; Tangeraas, Trine; Bliksrud, Yngve Thomas; Rahman, Shamima; Bindoff, Laurence Albert; Hikmat, Omar (Journal article; Peer reviewed, 2024)
      Objective To investigate the prevalence and natural history of POLG disease in the Norwegian population. Methods A national, population-based, retrospective study using demographic, clinical, and genetic data of ...

    • Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease 

      Hikmat, Omar; Isohanni, Pirjo; Keshavan, Nandaki; Ferla, Matteo P.; Fassone, Elisa; Abbott, Mary-Alice; Bellusci, Marcello; Darin, Niklas; Dimmock, David; Ghezzi, Daniele; Houlden, Henry; Invernizzi, Federica; Kamarus Jaman, Nazreen B.; Kurian, Manju A.; Morava, Eva; Naess, Karin; Ortigoza-Escobar, Juan Darío; Parikh, Sumit; Pennisi, Alessandra; Barcia, Giulia; Tylleskär, Karin; Brackman, Damien; Wortmann, Saskia B.; Taylor, Jenny C.; Bindoff, Laurence Albert; Fellman, Vineta; Rahman, Shamima (Journal article; Peer reviewed, 2021)
      Objective To delineate the full phenotypic spectrum of BCS1L-related disease, provide better understanding of the genotype–phenotype correlations and identify reliable prognostic disease markers. Methods We performed ...

    • Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16 

      Pakdaman, Yasaman; Berland, Siren; Bustad, Helene J.; Erdal, Sigrid; Thompson, Bryony A.; James, Paul A.; Power, Kjersti; Ellingsen, Ståle; Krooni, Martin; Berge, Line Iden; Sexton, Adrienne; Bindoff, Laurence Albert; Knappskog, Per Morten; Johansson, Stefan; Aukrust, Ingvild (Journal article; Peer reviewed, 2021)
      Variants in STUB1 cause both autosomal recessive (SCAR16) and dominant (SCA48) spinocerebellar ataxia. Reports from 18 STUB1 variants causing SCA48 show that the clinical picture includes later-onset ataxia with a cerebellar ...

    • Hallmark Molecular and Pathological Features of POLG Disease are Recapitulated in Cerebral Organoids 

      Chen, Anbin; Yangzom, Tsering; Hong, Yu; Lundberg, Bjørn Christian; Sullivan, Gareth John; Tzoulis, Charalampos; Bindoff, Laurence Albert; Liang, Xiao (Journal article; Peer reviewed, 2024)
      In this research, a 3D brain organoid model is developed to study POLG-related encephalopathy, a mitochondrial disease stemming from POLG mutations. Induced pluripotent stem cells (iPSCs) derived from patients with these ...

    • In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration 

      Hytönen, Marjo K.; Sarviaho, Riika; Jackson, Christopher; Syrjä, Pernilla; Jokinen, Tarja S.; Matiasek, Kaspar; Rosati, Marco; Dallabona, Cristina; Baruffini, Enrico; Quintero, Ileana; Arumilli, Meharji; Monteuuis, Geoffray; Donner, Jonas; Anttila, Marjukka; Suomalainen, Anu; Bindoff, Laurence Albert; Lohi, Hannes (Journal article; Peer reviewed, 2021)
      We investigated the clinical, genetic, and pathological characteristics of a previously unknown severe juvenile brain disorder in several litters of Parson Russel Terriers. The disease started with epileptic seizures at ...

    • Mitokondriesykdom forårsaket av m.3243A>G-mutasjonen 

      Varhaug, Kristin Nielsen; Hikmat, Omar; Bindoff, Laurence Albert (Journal article; Peer reviewed, 2022)
      Mitokondriesykdom er blant de vanligste metabolske sykdommene og er relevant for mange medisinske spesialiteter. Denne kliniske oversiktsartikkelen omtaler en av de vanligste mutasjonene bak mitokondriesykdom: m.3243A>G. ...

    • Musculoskeletal Chronic Graft versus Host Disease-A Rare Complication to Allogeneic Hematopoietic Stem Cell Transplant: A Case-Based Report and Review of the Literature 

      Kvinge, Alexander Dåtland; Kvammen, Tobias; Miletic, Hrvoje; Bindoff, Laurence Albert; Reikvam, Håkon (Journal article; Peer reviewed, 2022)
      Musculoskeletal graft versus host disease (GVHD) is a rare manifestation of chronic GVHD (cGVHD) following allogeneic hematopoietic stem cell transplantation (allo-HSCT). Left untreated, the disease can cause extensive ...

    • The NAD+ Precursor Nicotinamide Riboside Rescues Mitochondrial Defects and Neuronal Loss in iPSC derived Cortical Organoid of Alpers' Disease 

      Hong, Yu; Zhang, Zhuoyuan; Yangzom, Tsering; Chen, Anbin; Lundberg, Bjørn Christian; Fang, Fei; Siller, Richard; Sullivan, Gareth John; Zeman, Jiri; Tzoulis, Charalampos; Bindoff, Laurence Albert; Liang, Xiao (Journal article; Peer reviewed, 2024)
      Alpers' syndrome is an early-onset neurodegenerative disorder usually caused by biallelic pathogenic variants in the gene encoding the catalytic subunit of polymerase-gamma (POLG), which is essential for mitochondrial DNA ...

    • 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 ...

    • Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study 

      Björkman, Kristoffer; Vissing, John; Østergaard, Elsebet; Bindoff, Laurence Albert; de Coo, Irenaeus F M; Engvall, Martin; Hikmat, Omar; Isohanni, Pirjo; Kollberg, Gittan; Lindberg, Christopher; Majamaa, Kari; Naess, Karin; Uusimaa, Johanna; Tulinius, Mar; Darin, Niklas (Journal article; Peer reviewed, 2023)
      Background: Large-scale mitochondrial DNA deletions (LMD) are a common genetic cause of mitochondrial disease and give rise to a wide range of clinical features. Lack of longitudinal data means the natural history remains ...

    • 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 ...

    • PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients 

      Di Donfrancesco, Alessia; Berlingieri, Christian; Giacomello, Marta; Frascarelli, Chiara; Magalhaes Rebelo, Ana Paula; Bindoff, Laurence Albert; Reeval, Segel; Renbaum, Paul; Santorelli, Filippo M.; Massaro, Giulia; Viscomi, Carlo; Zeviani, Massimo; Ghezzi, Daniele; Bottani, Emanuela; Brunetti, Dario (Journal article; Peer reviewed, 2023)
      Introduction: Biallelic variants in PITRM1 are associated with a slowly progressive syndrome characterized by intellectual disability, spinocerebellar ataxia, cognitive decline and psychosis. The pitrilysin metallopeptidase ...