| First Author | Mircsof D | Year | 2015 |
| Journal | Nat Neurosci | Volume | 18 |
| Issue | 12 | Pages | 1731-6 |
| PubMed ID | 26571461 | Mgi Jnum | J:244023 |
| Mgi Id | MGI:5912802 | Doi | 10.1038/nn.4169 |
| Citation | Mircsof D, et al. (2015) Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects. Nat Neurosci 18(12):1731-6 |
| abstractText | 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. |
