- Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.
Nature neuroscience (2015-11-17)
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
PMID26571461
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.
MATERIALS
Product Number
Brand
Product Description
Sigma-Aldrich
Anti-Glial Fibrillary Acidic Protein Antibody, clone GA5, ascites fluid, clone GA5, Chemicon®