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Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
Ouyang, Qing; Nakayama, Tojo; Baytas, Ozan; Davidson, Shawn M; Yang, Chendong; Schmidt, Michael; Lizarraga, Sofia B; Mishra, Sasmita; Ei-Quessny, Malak; Niaz, Saima; Gul Butt, Mirrat; Imran Murtaza, Syed; Javed, Afzal; Chaudhry, Haroon Rashid; Vaughan, Dylan J; Hill, R Sean; Partlow, Jennifer N; Yoo, Seung-Yun; Lam, Anh-Thu N; Nasir, Ramzi; Al-Saffar, Muna; Barkovich, A James; Schwede, Matthew; Nagpal, Shailender; Rajab, Anna; DeBerardinis, Ralph J; Housman, David E; Mochida, Ganeshwaran H; Morrow, Eric M.
Afiliación
  • Ouyang Q; Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI 02912; Institute for Brain Science, Brown University, Providence, RI 02912; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Beha
  • Nakayama T; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115; Department of Pediatrics, Harvard Medical School, Boston, MA 02115;
  • Baytas O; Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI 02912; Institute for Brain Science, Brown University, Providence, RI 02912;
  • Davidson SM; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139;
  • Yang C; Department of Pediatrics, Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390;
  • Schmidt M; Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI 02912; Institute for Brain Science, Brown University, Providence, RI 02912; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Beha
  • Lizarraga SB; Center for Childhood of Neurotherapeutics, Department of Biological Sciences, University of South Carolina, Columbia, SC 29208;
  • Mishra S; Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI 02912; Institute for Brain Science, Brown University, Providence, RI 02912;
  • Ei-Quessny M; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115;
  • Niaz S; Pakistan Psychiatric Research Centre, Fountain House, Lahore, Pakistan; North London Forensic Service, Chase Farm Hospital, Barnet, Enfield and Haringey Mental Health National Health Service Trust, Enfield EN2 8JL, United Kingdom;
  • Gul Butt M; Pakistan Psychiatric Research Centre, Fountain House, Lahore, Pakistan; Department of Psychiatry, Fatima Jinnah Medical College/Sir Ganga Ram Hospital, Lahore, Pakistan;
  • Imran Murtaza S; Pakistan Psychiatric Research Centre, Fountain House, Lahore, Pakistan;
  • Javed A; Pakistan Psychiatric Research Centre, Fountain House, Lahore, Pakistan;
  • Chaudhry HR; Pakistan Psychiatric Research Centre, Fountain House, Lahore, Pakistan; Department of Psychiatry, Fatima Jinnah Medical College/Sir Ganga Ram Hospital, Lahore, Pakistan;
  • Vaughan DJ; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115;
  • Hill RS; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115;
  • Partlow JN; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115;
  • Yoo SY; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115;
  • Lam AT; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115;
  • Nasir R; Department of Pediatrics, Harvard Medical School, Boston, MA 02115; Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, MA 02115;
  • Al-Saffar M; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ai
  • Barkovich AJ; Department of Radiology and Biomedical Imaging, University of California, San Francisco, CA 94143;
  • Schwede M; Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI 02912; Institute for Brain Science, Brown University, Providence, RI 02912;
  • Nagpal S; Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI 02912; Institute for Brain Science, Brown University, Providence, RI 02912; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Beha
  • Rajab A; National Genetic Centre, Directorate General of Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman;
  • DeBerardinis RJ; Department of Pediatrics, Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390;
  • Housman DE; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139; dhousman@mit.edu Ganesh.Mochida@childrens.harvard.edu Eric_Morrow@brown.edu.
  • Mochida GH; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115; Department of Pediatrics, Harvard Medical School, Boston, MA 02115; Pediatric Neurology Unit, Department o
  • Morrow EM; Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI 02912; Institute for Brain Science, Brown University, Providence, RI 02912; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Beha
Proc Natl Acad Sci U S A ; 113(38): E5598-607, 2016 09 20.
Article en En | MEDLINE | ID: mdl-27601654
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encéfalo / Transaminasas / Mitocondrias / Enfermedades del Sistema Nervioso Límite: Animals / Humans Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encéfalo / Transaminasas / Mitocondrias / Enfermedades del Sistema Nervioso Límite: Animals / Humans Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2016 Tipo del documento: Article