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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Erdinc, Direnis; Rodríguez-Luis, Alejandro; Fassad, Mahmoud R; Mackenzie, Sarah; Watson, Christopher M; Valenzuela, Sebastian; Xie, Xie; Menger, Katja E; Sergeant, Kate; Craig, Kate; Hopton, Sila; Falkous, Gavin; Poulton, Joanna; Garcia-Moreno, Hector; Giunti, Paola; de Moura Aschoff, Carlos A; Morales Saute, Jonas A; Kirby, Amelia J; Toro, Camilo; Wolfe, Lynne; Novacic, Danica; Greenbaum, Lior; Eliyahu, Aviva; Barel, Ortal; Anikster, Yair; McFarland, Robert; Gorman, Gráinne S; Schaefer, Andrew M; Gustafsson, Claes M; Taylor, Robert W; Falkenberg, Maria; Nicholls, Thomas J.
Afiliación
  • Erdinc D; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.
  • Rodríguez-Luis A; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Fassad MR; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Mackenzie S; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Watson CM; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Valenzuela S; The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Xie X; North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK.
  • Menger KE; Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK.
  • Sergeant K; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.
  • Craig K; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.
  • Hopton S; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Falkous G; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Poulton J; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Garcia-Moreno H; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Giunti P; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • de Moura Aschoff CA; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Morales Saute JA; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Kirby AJ; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Wolfe L; Nuffield Department of Women's & Reproductive Health, The Women's Centre, University of Oxford, Oxford, UK.
  • Novacic D; Department of Clinical and Movement Neurosciences, Ataxia Centre, UCL Queen Square Institute of Neurology, London, UK.
  • Greenbaum L; Department of Clinical and Movement Neurosciences, Ataxia Centre, UCL Queen Square Institute of Neurology, London, UK.
  • Eliyahu A; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
  • Barel O; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
  • Anikster Y; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • McFarland R; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Gorman GS; Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC, USA.
  • Schaefer AM; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Gustafsson CM; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Taylor RW; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Falkenberg M; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.
  • Nicholls TJ; The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel.
EMBO Mol Med ; 15(5): e16775, 2023 05 08.
Article en En | MEDLINE | ID: mdl-37013609
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Mitocondriales / Enfermedades Musculares Límite: Humans Idioma: En Revista: EMBO Mol Med Asunto de la revista: BIOLOGIA MOLECULAR Año: 2023 Tipo del documento: Article País de afiliación: Suecia Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Mitocondriales / Enfermedades Musculares Límite: Humans Idioma: En Revista: EMBO Mol Med Asunto de la revista: BIOLOGIA MOLECULAR Año: 2023 Tipo del documento: Article País de afiliación: Suecia Pais de publicación: Reino Unido