Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
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| Title: | Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability. |
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| Authors: | 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.; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Fassad MR; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Mackenzie S; The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Watson CM; North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK.; Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK., Valenzuela S; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Xie X; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Menger KE; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Sergeant K; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Craig K; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Hopton S; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Falkous G; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Poulton J; Nuffield Department of Women's & Reproductive Health, The Women's Centre, University of Oxford, Oxford, UK., Garcia-Moreno H; Department of Clinical and Movement Neurosciences, Ataxia Centre, UCL Queen Square Institute of Neurology, London, UK., Giunti P; Department of Clinical and Movement Neurosciences, Ataxia Centre, UCL Queen Square Institute of Neurology, London, UK., de Moura Aschoff CA; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil., Morales Saute JA; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Kirby AJ; Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC, USA., Toro C; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Wolfe L; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Novacic D; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Greenbaum L; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.; The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Eliyahu A; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Barel O; Genomics Unit, The Center for Cancer Research, Sheba Medical Center, Tel Hashomer, Israel., Anikster Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., McFarland R; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Gorman GS; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Schaefer AM; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Gustafsson CM; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden., Taylor RW; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Falkenberg M; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Nicholls TJ; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK. |
| Corporate Authors: | Genomics England Research Consortium |
| Source: | EMBO molecular medicine [EMBO Mol Med] 2023 May 08; Vol. 15 (5), pp. e16775. Date of Electronic Publication: 2023 Apr 04. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1757-4684 |
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| DOI: | 10.15252/emmm.202216775 |
