| http://purl.uniprot.org/citations/36385105 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/36385105 | http://www.w3.org/2000/01/rdf-schema#comment | "Patients carrying autosomal dominant mutations in the histone/lysine acetyl transferases CBP or EP300 develop a neurodevelopmental disorder: Rubinstein-Taybi syndrome (RSTS). The biological pathways underlying these neurodevelopmental defects remain elusive. Here, we unravel the contribution of a stress-responsive pathway to RSTS. We characterize the structural and functional interaction between CBP/EP300 and heat-shock factor 2 (HSF2), a tuner of brain cortical development and major player in prenatal stress responses in the neocortex: CBP/EP300 acetylates HSF2, leading to the stabilization of the HSF2 protein. Consequently, RSTS patient-derived primary cells show decreased levels of HSF2 and HSF2-dependent alteration in their repertoire of molecular chaperones and stress response. Moreover, we unravel a CBP/EP300-HSF2-N-cadherin cascade that is also active in neurodevelopmental contexts, and show that its deregulation disturbs neuroepithelial integrity in 2D and 3D organoid models of cerebral development, generated from RSTS patient-derived iPSC cells, providing a molecular reading key for this complex pathology."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41467-022-34476-2"xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Nguyen L."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "David L."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Lacombe D."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Garrido C."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Verloes A."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Passemard S."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Leonetti C."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Taboureau O."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Berthelet J."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Westerheide S.D."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "de Thonel A."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Rodrigues-Lima F."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Fergelot P."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Ahlskog J.K."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Sistonen L."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Gressens P."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Sanial M."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Lebigot E."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Dubreuil V."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Mezger V."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Puustinen M.C."xsd:string |
| http://purl.uniprot.org/citations/36385105 | http://purl.uniprot.org/core/author | "Aalto A.L."xsd:string |