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Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
Karaca, Ender; Weitzer, Stefan; Pehlivan, Davut; Shiraishi, Hiroshi; Gogakos, Tasos; Hanada, Toshikatsu; Jhangiani, Shalini N; Wiszniewski, Wojciech; Withers, Marjorie; Campbell, Ian M; Erdin, Serkan; Isikay, Sedat; Franco, Luis M; Gonzaga-Jauregui, Claudia; Gambin, Tomasz; Gelowani, Violet; Hunter, Jill V; Yesil, Gozde; Koparir, Erkan; Yilmaz, Sarenur; Brown, Miguel; Briskin, Daniel; Hafner, Markus; Morozov, Pavel; Farazi, Thalia A; Bernreuther, Christian; Glatzel, Markus; Trattnig, Siegfried; Friske, Joachim; Kronnerwetter, Claudia; Bainbridge, Matthew N; Gezdirici, Alper; Seven, Mehmet; Muzny, Donna M; Boerwinkle, Eric; Ozen, Mustafa; Clausen, Tim; Tuschl, Thomas; Yuksel, Adnan; Hess, Andreas; Gibbs, Richard A; Martinez, Javier; Penninger, Josef M; Lupski, James R.
Afiliación
  • Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Weitzer S; Institute of Molecular Biotechnology (IMBA) of the Austrian Academy of Sciences, 1030 Vienna, Austria.
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Shiraishi H; Institute of Molecular Biotechnology (IMBA) of the Austrian Academy of Sciences, 1030 Vienna, Austria.
  • Gogakos T; Howard Hughes Medical Institute, Laboratory of RNA Molecular Biology, Rockefeller University, New York, NY 10065, USA.
  • Hanada T; Institute of Molecular Biotechnology (IMBA) of the Austrian Academy of Sciences, 1030 Vienna, Austria; Medical Innovation Center, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan.
  • Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Withers M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Campbell IM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Erdin S; Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Isikay S; Gaziantep Children's Hospital, Gaziantep 27560, Turkey.
  • Franco LM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gonzaga-Jauregui C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gelowani V; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Hunter JV; Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX 77030, USA.
  • Yesil G; Department of Medical Genetics, Bezmialem University, Istanbul 34093, Turkey.
  • Koparir E; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
  • Yilmaz S; Istanbul Medeniyet University, Faculty of Medicine, Department of Medical Genetics, Istanbul 34730, Turkey.
  • Brown M; Howard Hughes Medical Institute, Laboratory of RNA Molecular Biology, Rockefeller University, New York, NY 10065, USA.
  • Briskin D; Howard Hughes Medical Institute, Laboratory of RNA Molecular Biology, Rockefeller University, New York, NY 10065, USA.
  • Hafner M; Howard Hughes Medical Institute, Laboratory of RNA Molecular Biology, Rockefeller University, New York, NY 10065, USA.
  • Morozov P; Howard Hughes Medical Institute, Laboratory of RNA Molecular Biology, Rockefeller University, New York, NY 10065, USA.
  • Farazi TA; Howard Hughes Medical Institute, Laboratory of RNA Molecular Biology, Rockefeller University, New York, NY 10065, USA.
  • Bernreuther C; Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany.
  • Glatzel M; Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany.
  • Trattnig S; Department of Radiology, MR Center of Excellence, Medical University of Vienna, Vienna 1090, Austria.
  • Friske J; Department of Radiology, MR Center of Excellence, Medical University of Vienna, Vienna 1090, Austria.
  • Kronnerwetter C; Department of Radiology, MR Center of Excellence, Medical University of Vienna, Vienna 1090, Austria.
  • Bainbridge MN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gezdirici A; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
  • Seven M; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
  • Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
  • Ozen M; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
  • Clausen T; Institute of Molecular Pathology (IMP), 1030 Vienna, Austria.
  • Tuschl T; Howard Hughes Medical Institute, Laboratory of RNA Molecular Biology, Rockefeller University, New York, NY 10065, USA.
  • Yuksel A; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
  • Hess A; Institute for Experimental Pharmacology, Friedrich-Alexander University Erlangen-Nuremberg, 91054 Erlangen, Germany; Campus Support Facility (CSF), Vienna BioCentre, Vienna 1030, Austria.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Martinez J; Institute of Molecular Biotechnology (IMBA) of the Austrian Academy of Sciences, 1030 Vienna, Austria. Electronic address: javier.martinez@imba.oeaw.ac.at.
  • Penninger JM; Institute of Molecular Biotechnology (IMBA) of the Austrian Academy of Sciences, 1030 Vienna, Austria. Electronic address: josef.penninger@imba.oeaw.ac.at.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 770
Cell ; 157(3): 636-50, 2014 Apr 24.
Article en En | MEDLINE | ID: mdl-24766809
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Fosfotransferasas / Factores de Transcripción / ARN de Transferencia / Proteínas Nucleares / Enfermedades del Sistema Nervioso Central / Enfermedades del Sistema Nervioso Periférico / Mutación Missense Tipo de estudio: Prognostic_studies Idioma: En Revista: Cell Año: 2014 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Fosfotransferasas / Factores de Transcripción / ARN de Transferencia / Proteínas Nucleares / Enfermedades del Sistema Nervioso Central / Enfermedades del Sistema Nervioso Periférico / Mutación Missense Tipo de estudio: Prognostic_studies Idioma: En Revista: Cell Año: 2014 Tipo del documento: Article