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CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.

dc.rights.licenseopenen_US
dc.contributor.authorDE THONEL, Aurelie
dc.contributor.authorAHLSKOG, Johanna K
dc.contributor.authorDAUPIN, Kevin
dc.contributor.authorDUBREUIL, Veronique
dc.contributor.authorBERTHELET, Jeremy
dc.contributor.authorCHAPUT, Carole
dc.contributor.authorPIRES, Goeffrey
dc.contributor.authorLEONETTI, Camille
dc.contributor.authorABANE, Ryma
dc.contributor.authorBARRIS, Lluis Cordon
dc.contributor.authorLERAY, Isabelle
dc.contributor.authorAALTO, Anna L
dc.contributor.authorNACERI, Sarah
dc.contributor.authorCORDONNIER, Marine
dc.contributor.authorBENASOLO, Carene
dc.contributor.authorSANIAL, Matthieu
dc.contributor.authorDUCHATEAU, Agathe
dc.contributor.authorVIHERVAARA, Anniina
dc.contributor.authorPUUSTINEN, Mikael C
dc.contributor.authorMIOZZO, Federico
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorFERGELOT, Patricia
dc.contributor.authorLEBIGOT, Elise
dc.contributor.authorVERLOES, Alain
dc.contributor.authorGRESSENS, Pierre
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
dc.contributor.authorGOBBO, Jessica
dc.contributor.authorGARRIDO, Carmen
dc.contributor.authorWESTERHEIDE, Sandy D
dc.contributor.authorDAVID, Laurent
dc.contributor.authorPETITJEAN, Michel
dc.contributor.authorTABOUREAU, Olivier
dc.contributor.authorRODRIGUES-LIMA, Fernando
dc.contributor.authorPASSEMARD, Sandrine
dc.contributor.authorSABERAN-DJONEIDI, Delara
dc.contributor.authorNGUYEN, Laurent
dc.contributor.authorLANCASTER, Madeline
dc.contributor.authorSISTONEN, Lea
dc.contributor.authorMEZGER, Valerie
dc.date.accessioned2023-05-22T08:46:20Z
dc.date.available2023-05-22T08:46:20Z
dc.date.issued2022-11-16
dc.identifier.issn2041-1723en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/182215
dc.description.abstractEnPatients 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.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.title.enCBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
dc.title.alternativeNat Communen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s41467-022-34476-2en_US
dc.identifier.pubmed36385105en_US
bordeaux.journalNature Communicationsen_US
bordeaux.page7002en_US
bordeaux.volume13en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.exportfalse
workflow.import.sourcepubmed
dc.rights.ccCC BYen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Nature%20Communications&rft.date=2022-11-16&rft.volume=13&rft.issue=1&rft.spage=7002&rft.epage=7002&rft.eissn=2041-1723&rft.issn=2041-1723&rft.au=DE%20THONEL,%20Aurelie&AHLSKOG,%20Johanna%20K&DAUPIN,%20Kevin&DUBREUIL,%20Veronique&BERTHELET,%20Jeremy&rft.genre=article


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