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Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.
Mircsof, Dennis; Langouët, Maéva; Rio, Marlène; Moutton, Sébastien; Siquier-Pernet, Karine; Bole-Feysot, Christine; Cagnard, Nicolas; Nitschke, Patrick; Gaspar, Ludmila; Znidaric, Matej; Alibeu, Olivier; Fritz, Ann-Kristina; Wolfer, David P; Schröter, Aileen; Bosshard, Giovanna; Rudin, Markus; Koester, Christina; Crestani, Florence; Seebeck, Petra; Boddaert, Nathalie; Prescott, Katrina; Hines, Rochelle; Moss, Steven J; Fritschy, Jean-Marc; Munnich, Arnold; Amiel, Jeanne; Brown, Steven A; Tyagarajan, Shiva K; Colleaux, Laurence.
Afiliación
  • Mircsof D; Chronobiology and Sleep Research Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.
  • Langouët M; Neuromorphology Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.
  • Rio M; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.
  • Moutton S; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.
  • Siquier-Pernet K; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
  • Bole-Feysot C; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.
  • Cagnard N; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.
  • Nitschke P; Genomic Platform, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.
  • Gaspar L; Bioinformatic Platform, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.
  • Znidaric M; Bioinformatic Platform, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.
  • Alibeu O; Chronobiology and Sleep Research Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.
  • Fritz AK; Chronobiology and Sleep Research Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.
  • Wolfer DP; Genomic Platform, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.
  • Schröter A; Institute of Anatomy, University of Zürich and Institute of Human Movement Sciences and Sport, ETH Zürich, Switzerland.
  • Bosshard G; Institute of Anatomy, University of Zürich and Institute of Human Movement Sciences and Sport, ETH Zürich, Switzerland.
  • Rudin M; Molecular Imaging and Functional Pharmacology Group, University of Zürich, Zürich, Switzerland.
  • Koester C; Neuromorphology Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.
  • Crestani F; Molecular Imaging and Functional Pharmacology Group, University of Zürich, Zürich, Switzerland.
  • Seebeck P; Neuromorphology Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.
  • Boddaert N; Neuromorphology Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.
  • Prescott K; Center for Integrative Rodent Physiology, University of Zürich, Zürich, Switzerland.
  • Hines R; Service de radiologie pédiatrique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
  • Moss SJ; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals National Health Service Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, UK.
  • Munnich A; Tufts University, Sackler School of Graduate Biomedical Sciences, Boston, Massachusetts, USA.
  • Amiel J; Tufts University, Sackler School of Graduate Biomedical Sciences, Boston, Massachusetts, USA.
  • Brown SA; Neuromorphology Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.
  • Tyagarajan SK; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.
  • Colleaux L; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.
Nat Neurosci ; 18(12): 1731-6, 2015 Dec.
Article en En | MEDLINE | ID: mdl-26571461
The NONO protein has been characterized as an important transcriptional regulator in diverse cellular contexts. Here we show that loss of NONO function is a likely cause of human intellectual disability and that NONO-deficient mice have cognitive and affective deficits. Correspondingly, we find specific defects at inhibitory synapses, where NONO regulates synaptic transcription and gephyrin scaffold structure. Our data identify NONO as a possible neurodevelopmental disease gene and highlight the key role of the DBHS protein family in functional organization of GABAergic synapses.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Sinapsis / Proteínas de Unión al ARN / Proteínas Asociadas a Matriz Nuclear / Factores de Transcripción de Octámeros / Discapacidad Intelectual / Mutación / Inhibición Neural Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Humans / Male Idioma: En Revista: Nat Neurosci Asunto de la revista: NEUROLOGIA Año: 2015 Tipo del documento: Article País de afiliación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Sinapsis / Proteínas de Unión al ARN / Proteínas Asociadas a Matriz Nuclear / Factores de Transcripción de Octámeros / Discapacidad Intelectual / Mutación / Inhibición Neural Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Humans / Male Idioma: En Revista: Nat Neurosci Asunto de la revista: NEUROLOGIA Año: 2015 Tipo del documento: Article País de afiliación: Suiza