Title |
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects
|
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Published in |
Nature Neuroscience, November 2015
|
DOI | 10.1038/nn.4169 |
Pubmed ID | |
Authors |
Dennis Mircsof, Maéva Langouët, Marlène Rio, Sébastien Moutton, Karine Siquier-Pernet, Christine Bole-Feysot, Nicolas Cagnard, Patrick Nitschke, Ludmila Gaspar, Matej Žnidarič, Olivier Alibeu, Ann-Kristina Fritz, David P Wolfer, Aileen Schröter, Giovanna Bosshard, Markus Rudin, Christina Koester, Florence Crestani, Petra Seebeck, Nathalie Boddaert, Katrina Prescott, Rochelle Hines, Steven J Moss, Jean-Marc Fritschy, Arnold Munnich, Jeanne Amiel, Steven A Brown, Shiva K Tyagarajan, Laurence Colleaux |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Turkey | 1 | 20% |
United States | 1 | 20% |
Spain | 1 | 20% |
Unknown | 2 | 40% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 4 | 80% |
Science communicators (journalists, bloggers, editors) | 1 | 20% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Netherlands | 1 | <1% |
Canada | 1 | <1% |
Austria | 1 | <1% |
Slovenia | 1 | <1% |
Unknown | 134 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 29 | 21% |
Researcher | 17 | 12% |
Student > Master | 17 | 12% |
Student > Doctoral Student | 11 | 8% |
Student > Bachelor | 9 | 7% |
Other | 25 | 18% |
Unknown | 30 | 22% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 28 | 20% |
Neuroscience | 25 | 18% |
Biochemistry, Genetics and Molecular Biology | 23 | 17% |
Medicine and Dentistry | 11 | 8% |
Nursing and Health Professions | 5 | 4% |
Other | 17 | 12% |
Unknown | 29 | 21% |