Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
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| Title: | Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. |
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| Authors: | 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.; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Alahmad A; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.; Kuwait Medical Genetics Center, Kuwait City, Kuwait., Al-Balool HH; Kuwait Medical Genetics Center, Kuwait City, Kuwait., Albash B; Kuwait Medical Genetics Center, Kuwait City, Kuwait., Alfadhel M; Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Alston CL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Bertini E; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy., Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Bratkovic D; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Carrozzo R; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy., Donati MA; Metabolic Unit, A. Meyer Children's Hospital, Florence, Italy., 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; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Goldstein A; Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, USA., Haan E; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Horvath R; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Hughes J; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland., Invernizzi F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Lamantea E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Lucas B; York College, The City University of New York, Jamaica, New York., Pinnock KG; York College, The City University of New York, Jamaica, New York., Pujantell M; York College, The City University of New York, Jamaica, New York., Rahman S; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK., Rebelo-Guiomar P; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Graduate Program in Areas of Basic and Applied Biology, University of Porto, Porto, Portugal., Santra S; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK., Verrigni D; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy., McFarland R; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Prokisch H; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Technische Universität München, Munich, Germany.; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Levinger L; York College, The City University of New York, Jamaica, New York., Minczuk M; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK. |
| Source: | Human mutation [Hum Mutat] 2019 Oct; Vol. 40 (10), pp. 1731-1748. Date of Electronic Publication: 2019 Jun 18. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1002/humu.23777 |
