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Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Saoura, Makenzie; Powell, Christopher A; Kopajtich, Robert; Alahmad, Ahmad; Al-Balool, Haya H; Albash, Buthaina; Alfadhel, Majid; Alston, Charlotte L; Bertini, Enrico; Bonnen, Penelope E; Bratkovic, Drago; Carrozzo, Rosalba; Donati, Maria A; Di Nottia, Michela; Ghezzi, Daniele; Goldstein, Amy; Haan, Eric; Horvath, Rita; Hughes, Joanne; Invernizzi, Federica; Lamantea, Eleonora; Lucas, Benjamin; Pinnock, Kyla-Gaye; Pujantell, Maria; Rahman, Shamima; Rebelo-Guiomar, Pedro; Santra, Saikat; Verrigni, Daniela; McFarland, Robert; Prokisch, Holger; Taylor, Robert W; Levinger, Louis; Minczuk, Michal.
Afiliação
  • Saoura M; York College, The City University of New York, Jamaica, New York.
  • Powell CA; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.
  • Kopajtich R; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Alahmad A; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Al-Balool HH; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Albash B; Kuwait Medical Genetics Center, Kuwait City, Kuwait.
  • Alfadhel M; Kuwait Medical Genetics Center, Kuwait City, Kuwait.
  • Alston CL; Kuwait Medical Genetics Center, Kuwait City, Kuwait.
  • Bertini E; Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
  • Bonnen PE; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Bratkovic D; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy.
  • Carrozzo R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Donati MA; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
  • Di Nottia M; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy.
  • Ghezzi D; Metabolic Unit, A. Meyer Children's Hospital, Florence, Italy.
  • Goldstein A; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy.
  • Haan E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Horvath R; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Hughes J; Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, USA.
  • Invernizzi F; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
  • Lamantea E; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Lucas B; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
  • Pinnock KG; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Pujantell M; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Rahman S; York College, The City University of New York, Jamaica, New York.
  • Rebelo-Guiomar P; York College, The City University of New York, Jamaica, New York.
  • Santra S; York College, The City University of New York, Jamaica, New York.
  • Verrigni D; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.
  • McFarland R; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.
  • Prokisch H; Graduate Program in Areas of Basic and Applied Biology, University of Porto, Porto, Portugal.
  • Taylor RW; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK.
  • Levinger L; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy.
  • Minczuk M; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Hum Mutat ; 40(10): 1731-1748, 2019 10.
Article em En | MEDLINE | ID: mdl-31045291
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / RNA de Transferência / Processamento Pós-Transcricional do RNA / Predisposição Genética para Doença / Genes Mitocondriais / Mutação / Proteínas de Neoplasias Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / RNA de Transferência / Processamento Pós-Transcricional do RNA / Predisposição Genética para Doença / Genes Mitocondriais / Mutação / Proteínas de Neoplasias Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article