{"entity": "researcher", "timestamp": "2026-04-13T04:31:29.736Z", "family": "Mezger", "given": "Val\u00e9rie", "initials": "V", "orcid": "0000-0003-1623-6213", "affiliations": ["Universit\u00e9 de Paris, CNRS, Epigenetics and Cell Fate, F-75013, Paris, France. valerie.mezger@univ-paris-diderot.fr."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/404dcbf8cb4f42229b59804c743168ce.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/404dcbf8cb4f42229b59804c743168ce"}}, "publications": [{"entity": "publication", "iuid": "da5bb1e8f3ce455aa73f337380aafda5", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/da5bb1e8f3ce455aa73f337380aafda5.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/da5bb1e8f3ce455aa73f337380aafda5"}}, "title": "CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.", "authors": [{"family": "de Thonel", "given": "Aur\u00e9lie", "initials": "A", "orcid": "0000-0003-0405-0745", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/07a4bbc138414fcc9b423a44474c94ab.json"}}, {"family": "Ahlskog", "given": "Johanna K", "initials": "JK"}, {"family": "Daupin", "given": "Kevin", "initials": "K", "orcid": "0000-0003-3303-2319", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1354bb9b65aa43f6911f457be0f2ab18.json"}}, {"family": "Dubreuil", "given": "V\u00e9ronique", "initials": "V"}, {"family": "Berthelet", "given": "J\u00e9r\u00e9my", "initials": "J"}, {"family": "Chaput", "given": "Carole", "initials": "C", "orcid": "0000-0003-4493-000X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e92e93dfaa46471ea26caef26537dc91.json"}}, {"family": "Pires", "given": "Geoffrey", "initials": "G"}, {"family": "Leonetti", "given": "Camille", "initials": "C"}, {"family": "Abane", "given": "Ryma", "initials": "R"}, {"family": "Barris", "given": "Llu\u00eds Cord\u00f3n", "initials": "LC"}, {"family": "Leray", "given": "Isabelle", "initials": "I"}, {"family": "Aalto", "given": "Anna L", "initials": "AL", "orcid": "0000-0001-5503-6447", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f15b3b1268a94fd68149b2c8263a6278.json"}}, {"family": "Naceri", "given": "Sarah", "initials": "S"}, {"family": "Cordonnier", "given": "Marine", "initials": "M"}, {"family": "Benasolo", "given": "Car\u00e8ne", "initials": "C"}, {"family": "Sanial", "given": "Matthieu", "initials": "M", "orcid": "0000-0002-0301-4710", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ae90775801d6472c8ce761020762b73f.json"}}, {"family": "Duchateau", "given": "Agathe", "initials": "A"}, {"family": "Vihervaara", "given": "Anniina", "initials": "A", "orcid": "0000-0001-6256-4694", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/18141880ac7c4db3a6bc41f43ec03713.json"}}, {"family": "Puustinen", "given": "Mikael C", "initials": "MC"}, {"family": "Miozzo", "given": "Federico", "initials": "F", "orcid": "0000-0003-0818-9525", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d27415e4312e4388bffd8d2b4c6709d1.json"}}, {"family": "Fergelot", "given": "Patricia", "initials": "P"}, {"family": "Lebigot", "given": "\u00c9lise", "initials": "\u00c9", "orcid": "0000-0003-0419-8547", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/11947ffcdf7149f7b7046c1201db5094.json"}}, {"family": "Verloes", "given": "Alain", "initials": "A"}, {"family": "Gressens", "given": "Pierre", "initials": "P", "orcid": "0000-0002-0909-4221", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a57e0e7e8f2345548e3eb25bc6d50e5b.json"}}, {"family": "Lacombe", "given": "Didier", "initials": "D"}, {"family": "Gobbo", "given": "Jessica", "initials": "J"}, {"family": "Garrido", "given": "Carmen", "initials": "C"}, {"family": "Westerheide", "given": "Sandy D", "initials": "SD"}, {"family": "David", "given": "Laurent", "initials": "L", "orcid": "0000-0003-3594-0353", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7e94140d0e074c9d986c6982572e6e76.json"}}, {"family": "Petitjean", "given": "Michel", "initials": "M", "orcid": "0000-0002-1745-5402", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0390569852ee4418a31e12e1a298585f.json"}}, {"family": "Taboureau", "given": "Olivier", "initials": "O"}, {"family": "Rodrigues-Lima", "given": "Fernando", "initials": "F"}, {"family": "Passemard", "given": "Sandrine", "initials": "S"}, {"family": "Sab\u00e9ran-Djoneidi", "given": "D\u00e9lara", "initials": "D", "orcid": "0000-0002-2757-6419", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7497cc68bb884df8b6af4ce0f506dff2.json"}}, {"family": "Nguyen", "given": "Laurent", "initials": "L"}, {"family": "Lancaster", "given": "Madeline", "initials": "M", "orcid": "0000-0003-2324-8853", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/517deea851cc4d57839b21688037b477.json"}}, {"family": "Sistonen", "given": "Lea", "initials": "L", "orcid": "0000-0003-1341-2867", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aafaee6a2aca4f4783add9775d660b74.json"}}, {"family": "Mezger", "given": "Val\u00e9rie", "initials": "V", "orcid": "0000-0003-1623-6213", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/404dcbf8cb4f42229b59804c743168ce.json"}}], "type": "journal article", "published": "2022-11-16", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "13", "issue": "1", "pages": "7002", "issn-l": "2041-1723"}, "abstract": "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.", "doi": "10.1038/s41467-022-34476-2", "pmid": "36385105", "labels": {"SciLifeLab Fellow": null, "Anniina Vihervaara": null}, "xrefs": [{"db": "pmc", "key": "PMC9668993"}, {"db": "pii", "key": "10.1038/s41467-022-34476-2"}], "notes": [], "created": "2022-12-01T12:21:04.038Z", "modified": "2022-12-01T12:21:04.513Z"}]}