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

doi:10.1038/s41467-022-34476-2

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Article

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

Nature communications - 16 Nov 2022

de Thonel Aurélie, Ahlskog Johanna K, Daupin Kevin, Dubreuil Véronique, Berthelet Jérémy, Chaput Carole, Pires Geoffrey, Leonetti Camille, Abane Ryma, Barris Lluís Cordón, Leray Isabelle, Aalto Anna L, Naceri Sarah, Cordonnier Marine, Benasolo Carène, Sanial Matthieu, Duchateau Agathe, Vihervaara Anniina, Puustinen Mikael C, Miozzo Federico, Fergelot Patricia, Lebigot Élise, Verloes Alain, Gressens Pierre, Lacombe Didier, Gobbo Jessica, Garrido Carmen, Westerheide Sandy D, David Laurent, Petitjean Michel, Taboureau Olivier, Rodrigues-Lima Fernando, Passemard Sandrine, Sabéran-Djoneidi Délara, Nguyen Laurent, Lancaster Madeline, Sistonen Lea, Mezger Valérie

Abstract excerpt

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...

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Identifiers

PMID: 36385105
DOI: 10.1038/s41467-022-34476-2
PMCID: PMC9668993

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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