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TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.
Powell, Christopher A; Kopajtich, Robert; D'Souza, Aaron R; Rorbach, Joanna; Kremer, Laura S; Husain, Ralf A; Dallabona, Cristina; Donnini, Claudia; Alston, Charlotte L; Griffin, Helen; Pyle, Angela; Chinnery, Patrick F; Strom, Tim M; Meitinger, Thomas; Rodenburg, Richard J; Schottmann, Gudrun; Schuelke, Markus; Romain, Nadine; Haller, Ronald G; Ferrero, Ileana; Haack, Tobias B; Taylor, Robert W; Prokisch, Holger; Minczuk, Michal.
Affiliation
  • Powell CA; Mitochondrial Biology Unit, Medical Research Council, CB2 0XY Cambridge, UK.
  • Kopajtich R; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • D'Souza AR; Mitochondrial Biology Unit, Medical Research Council, CB2 0XY Cambridge, UK.
  • Rorbach J; Mitochondrial Biology Unit, Medical Research Council, CB2 0XY Cambridge, UK.
  • Kremer LS; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Husain RA; Department of Neuropediatrics, Jena University Hospital, 07740 Jena, Germany.
  • Dallabona C; Department of Life Sciences, University of Parma, 43124 Parma, Italy.
  • Donnini C; Department of Life Sciences, University of Parma, 43124 Parma, Italy.
  • Alston CL; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.
  • Griffin H; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, NE1 3BZ Newcastle upon Tyne, UK.
  • Pyle A; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, NE1 3BZ Newcastle upon Tyne, UK.
  • Chinnery PF; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, NE1 3BZ Newcastle upon Tyne, UK.
  • Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Meitinger T; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Munich Heart Alliance, German Centre for Cardiovascular Research, 81675 Munich, Germ
  • Rodenburg RJ; Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Centre, 6500HB Nijmegen, the Netherlands.
  • Schottmann G; Department of Neuropediatrics and the NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
  • Schuelke M; Department of Neuropediatrics and the NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
  • Romain N; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX 75231, USA; Neuromuscular Center, Institute for Exercise and Environmental Medicine, Texas Health Presbyterian Hospital Dallas, Dallas, TX 75231, USA.
  • Haller RG; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX 75231, USA; Neuromuscular Center, Institute for Exercise and Environmental Medicine, Texas Health Presbyterian Hospital Dallas, Dallas, TX 75231, USA.
  • Ferrero I; Department of Life Sciences, University of Parma, 43124 Parma, Italy.
  • Haack TB; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.
  • Prokisch H; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany. Electronic address: prokisch@helmholtz-muenchen.de.
  • Minczuk M; Mitochondrial Biology Unit, Medical Research Council, CB2 0XY Cambridge, UK. Electronic address: michal.minczuk@mrc-mbu.cam.ac.uk.
Am J Hum Genet ; 97(2): 319-28, 2015 Aug 06.
Article in En | MEDLINE | ID: mdl-26189817
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: TRNA Methyltransferases / RNA, Transfer / Models, Molecular / RNA Processing, Post-Transcriptional / Mitochondrial Diseases Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2015 Document type: Article Affiliation country: Reino Unido Country of publication: Estados Unidos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: TRNA Methyltransferases / RNA, Transfer / Models, Molecular / RNA Processing, Post-Transcriptional / Mitochondrial Diseases Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2015 Document type: Article Affiliation country: Reino Unido Country of publication: Estados Unidos