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Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.
Pagnamenta, Alistair T; Heemeryck, Pierre; Martin, Hilary C; Bosc, Christophe; Peris, Leticia; Uszynski, Ivy; Gory-Fauré, Sylvie; Couly, Simon; Deshpande, Charu; Siddiqui, Ata; Elmonairy, Alaa A; Jayawant, Sandeep; Murthy, Sarada; Walker, Ian; Loong, Lucy; Bauer, Peter; Vossier, Frédérique; Denarier, Eric; Maurice, Tangui; Barbier, Emmanuel L; Deloulme, Jean-Christophe; Taylor, Jenny C; Blair, Edward M; Andrieux, Annie; Moutin, Marie-Jo.
Afiliação
  • Pagnamenta AT; NIHR Oxford BRC, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Heemeryck P; Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm, U1216, CEA, CNRS, 38000 Grenoble, France.
  • Martin HC; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
  • Bosc C; Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm, U1216, CEA, CNRS, 38000 Grenoble, France.
  • Peris L; Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm, U1216, CEA, CNRS, 38000 Grenoble, France.
  • Uszynski I; Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm, U1216, CEA, CNRS, 38000 Grenoble, France.
  • Gory-Fauré S; Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm, U1216, CEA, CNRS, 38000 Grenoble, France.
  • Couly S; MMDN, Université de Montpellier, INSERM, EPHE, UMR_S1198, Montpellier, France.
  • Deshpande C; South East Thames Regional Genetics Unit, Guys and St Thomas NHS Trust, London, UK.
  • Siddiqui A; Department of Neuroradiology, Kings College Hospital, Denmark Hill, London SE5 9RS, UK.
  • Elmonairy AA; Ministry of Health, Kuwait Medical Genetics Center, Sulaibikhat 80901, Kuwait.
  • Jayawant S; Department of Paediatric Neurology, John Radcliffe Hospital, Oxford, UK.
  • Murthy S; Community Paediatrics, Upton Hospital, Slough, UK.
  • Walker I; Clinical Biochemistry, Wexham Park Hospital, Slough, UK.
  • Loong L; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Bauer P; Centogene AG, 18055 Rostock, Germany.
  • Vossier F; Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm, U1216, CEA, CNRS, 38000 Grenoble, France.
  • Denarier E; Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm, U1216, CEA, CNRS, 38000 Grenoble, France.
  • Maurice T; MMDN, Université de Montpellier, INSERM, EPHE, UMR_S1198, Montpellier, France.
  • Barbier EL; Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm, U1216, CEA, CNRS, 38000 Grenoble, France.
  • Deloulme JC; Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm, U1216, CEA, CNRS, 38000 Grenoble, France.
  • Taylor JC; NIHR Oxford BRC, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Blair EM; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Andrieux A; Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm, U1216, CEA, CNRS, 38000 Grenoble, France.
  • Moutin MJ; Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm, U1216, CEA, CNRS, 38000 Grenoble, France.
Hum Mol Genet ; 28(20): 3391-3405, 2019 10 15.
Article em En | MEDLINE | ID: mdl-31363758
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Encéfalo / Proteínas de Ciclo Celular / Neurônios Tipo de estudo: Etiology_studies Limite: Animals / Female / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Reino Unido
Texto completo
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Imprimir
XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Encéfalo / Proteínas de Ciclo Celular / Neurônios Tipo de estudo: Etiology_studies Limite: Animals / Female / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Reino Unido