Article
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
American journal of human genetics - 6 May 2021
Latypova Xenia, Vincent Marie, Mollé Alice, Adebambo Oluwadamilare A, Fourgeux Cynthia, Khan Tahir N, Caro Alfonso, Rosello Monica, Orellana Carmen, Niyazov Dmitriy, Lederer Damien, Deprez Marie, Capri Yline, Kannu Peter, Tabet Anne Claude, Levy Jonathan, Aten Emmelien, den Hollander Nicolette, Splitt Miranda, Walia Jagdeep, Immken Ladonna L, Stankiewicz Pawel, McWalter Kirsty, Suchy Sharon, Louie Raymond J, Bell Shannon, Stevenson Roger E, Rousseau Justine, Willem Catherine, Retiere Christelle, Yang Xiang-Jiao, Campeau Philippe M, Martinez Francisco, Rosenfeld Jill A, Le Caignec Cédric, Küry Sébastien, Mercier Sandra, Moradkhani Kamran, Conrad Solène, Besnard Thomas, Cogné Benjamin, Katsanis Nicholas, Bézieau Stéphane, Poschmann Jeremie, Davis Erica E, Isidor Bertrand
Abstract excerpt
Proteins involved in transcriptional regulation harbor a demonstrated enrichment of mutations in neurodevelopmental disorders. The Sin3 (Swi-independent 3)/histone deacetylase (HDAC) complex plays a central role in histone deacetylation and transcriptional repression. Among the two vertebrate paralogs encoding the Sin3 complex, SIN3A variants cause syndromic intellectual disability, but the clinical consequences...
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