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TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Van Haute, Lindsey; O'Connor, Emily; Díaz-Maldonado, Héctor; Munro, Benjamin; Polavarapu, Kiran; Hock, Daniella H; Arunachal, Gautham; Athanasiou-Fragkouli, Alkyoni; Bardhan, Mainak; Barth, Magalie; Bonneau, Dominique; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Caruana, Nikeisha J; Dominik, Natalia; Goel, Himanshu; Helman, Guy; Houlden, Henry; Lenaers, Guy; Mention, Karine; Murphy, David; Nandeesh, Bevinahalli; Olimpio, Catarina; Powell, Christopher A; Preethish-Kumar, Veeramani; Procaccio, Vincent; Rius, Rocio; Rebelo-Guiomar, Pedro; Simons, Cas; Vengalil, Seena; Zaki, Maha S; Ziegler, Alban; Thorburn, David R; Stroud, David A; Maroofian, Reza; Christodoulou, John; Gustafsson, Claes; Nalini, Atchayaram; Lochmüller, Hanns; Minczuk, Michal; Horvath, Rita.
Afiliación
  • Van Haute L; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 0XY, UK.
  • O'Connor E; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Díaz-Maldonado H; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada.
  • Munro B; Department of Biochemistry and Cell Biology, University of Gothenburg, SE-405 30, Gothenburg, Sweden.
  • Polavarapu K; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
  • Hock DH; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Arunachal G; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada.
  • Athanasiou-Fragkouli A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
  • Bardhan M; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, 30 Flemington Road, Parkville, VIC, 3052, Australia.
  • Barth M; Department of Human genetics, National Institute of Mental Health and Neurosciences, Bengaluru, India.
  • Bonneau D; UCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.
  • Brunetti-Pierri N; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
  • Cappuccio G; Department of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of Angers, Angers, France.
  • Caruana NJ; Department of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of Angers, Angers, France.
  • Dominik N; Department of Translational Medicine, University of Naples Federico II, Via s. Pansini, 5, 80131, Naples, Italy.
  • Goel H; Department of Translational Medicine, University of Naples Federico II, Via s. Pansini, 5, 80131, Naples, Italy.
  • Helman G; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, 30 Flemington Road, Parkville, VIC, 3052, Australia.
  • Houlden H; Institute for Health and Sport (IHES), Victoria University, Melbourne, VIC, 3011, Australia.
  • Lenaers G; UCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.
  • Mention K; Hunter Genetics, Waratah, University of Newcastle, Callaghan, NSW, 2298, Australia.
  • Murphy D; Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.
  • Nandeesh B; UCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.
  • Olimpio C; Department of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of Angers, Angers, France.
  • Powell CA; Pediatric Inherited Metabolic Disorders, Hôpital Jeanne de Flandre, Lille, France.
  • Preethish-Kumar V; UCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.
  • Procaccio V; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
  • Rius R; Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
  • Rebelo-Guiomar P; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
  • Simons C; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 0XY, UK.
  • Vengalil S; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
  • Zaki MS; Department of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of Angers, Angers, France.
  • Ziegler A; Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.
  • Thorburn DR; Department of Paediatrics, University of Melbourne, Parkville, VIC, 3010, Australia.
  • Stroud DA; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 0XY, UK.
  • Maroofian R; Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.
  • Christodoulou J; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
  • Gustafsson C; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, 12311, Egypt.
  • Nalini A; Department of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of Angers, Angers, France.
  • Lochmüller H; Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052, Australia.
  • Minczuk M; Department of Paediatrics, University of Melbourne, Parkville, VIC, 3010, Australia.
  • Horvath R; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, 30 Flemington Road, Parkville, VIC, 3052, Australia.
Nat Commun ; 14(1): 1009, 2023 02 23.
Article en En | MEDLINE | ID: mdl-36823193
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción / Pez Cebra Tipo de estudio: Prognostic_studies Límite: Animals / Child / Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Añadir a Mi BVS
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción / Pez Cebra Tipo de estudio: Prognostic_studies Límite: Animals / Child / Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido