Nature neuroscience, 2015-12, Vol.18 (12), p.1731
- Mircsof, Dennis
- Langouët, Maéva
- Rio, Marlène
- Moutton, Sébastien
- Siquier-Pernet, Karine
- Bole-Feysot, Christine
- Cagnard, Nicolas
- Nitschke, Patrick
- Gaspar, Ludmila
- Žnidarič, 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
2015
Details
- Autor(en) / Beteiligte
- Mircsof, Dennis
- Langouët, Maéva
- Rio, Marlène
- Moutton, Sébastien
- Siquier-Pernet, Karine
- Bole-Feysot, Christine
- Cagnard, Nicolas
- Nitschke, Patrick
- Gaspar, Ludmila
- Žnidarič, 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
- Titel
- Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects
- Ist Teil von
- Nature neuroscience, 2015-12, Vol.18 (12), p.1731
- Ort / Verlag
- United States
- Erscheinungsjahr
- 2015
- Link zum Volltext
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- eISSN: 1546-1726DOI: 10.1038/nn.4169Titel-ID: cdi_pubmed_primary_26571461
- Format
- –
- Schlagworte
- Adolescent, Animals, Brain - pathology, Cells, Cultured, DNA-Binding Proteins, Humans, Intellectual Disability - diagnosis, Intellectual Disability - genetics, Male, Mice, Mice, Inbred C57BL, Mice, Transgenic, Mutation - genetics, Neural Inhibition - genetics, Nuclear Matrix-Associated Proteins - genetics, Octamer Transcription Factors - genetics, Pedigree, RNA-Binding Proteins - genetics, Synapses - genetics, Synapses - pathology