| Literature DB >> 26571461 |
Dennis Mircsof1,2, Maéva Langouët3, Marlène Rio3,4, Sébastien Moutton3, Karine Siquier-Pernet3, Christine Bole-Feysot5, Nicolas Cagnard6, Patrick Nitschke6, Ludmila Gaspar1, Matej Žnidarič1, Olivier Alibeu5, Ann-Kristina Fritz7, David P Wolfer7, Aileen Schröter8, Giovanna Bosshard2, Markus Rudin8, Christina Koester2, Florence Crestani2, Petra Seebeck9, Nathalie Boddaert3,10, Katrina Prescott11, Rochelle Hines12, Steven J Moss12, Jean-Marc Fritschy2, Arnold Munnich3, Jeanne Amiel3,4, Steven A Brown1, Shiva K Tyagarajan2, Laurence Colleaux3.
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.Entities:
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Year: 2015 PMID： 26571461 PMCID： PMC5392243 DOI： 10.1038/nn.4169
Source DB: PubMed Journal: Nat Neurosci ISSN： 1097-6256 Impact factor: 24.884