Dissemin is shutting down on January 1st, 2025

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Nature Research, Nature Neuroscience, 12(18), p. 1731-1736, 2015

DOI: 10.1038/nn.4169

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Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Journal article published in 2015 by Dennis Mircsof, Maéva Langouët, Marlène Rio, Sébastien Moutton ORCID, Karine Siquier-Pernet, Christine Bole-Feysot, Nicolas Cagnard, Patrick Nitschke, Ludmila Gaspar, Matej Žnidarič, Ann-Kristina Fritz, David P. Wolfer, Aileen Schröter, Giovanna Bosshard, Markus Rudin and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.