Article
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.
Nature neuroscience - 1 Dec 2015
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
Abstract excerpt
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....
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