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

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 st...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668993/
https://www.ncbi.nlm.nih.gov/pubmed/36385105
http://dx.doi.org/10.1038/s41467-022-34476-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668993/
https://www.ncbi.nlm.nih.gov/pubmed/36385105
http://dx.doi.org/10.1038/s41467-022-34476-2

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