{"entity": "researcher", "timestamp": "2026-04-13T04:34:30.840Z", "family": "de Thonel", "given": "Aur\u00e9lie", "initials": "A", "orcid": "0000-0003-0405-0745", "affiliations": ["Universit\u00e9 de Paris, CNRS, Epigenetics and Cell Fate, F-75013, Paris, France. aurelie.dethonel@univ-paris-diderot.fr."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/07a4bbc138414fcc9b423a44474c94ab.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/07a4bbc138414fcc9b423a44474c94ab"}}, "publications": [{"entity": "publication", "iuid": "e828ce675a4841d8b424e2589dfe0caa", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/e828ce675a4841d8b424e2589dfe0caa.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/e828ce675a4841d8b424e2589dfe0caa"}}, "title": "Stress biology: Complexity and multifariousness in health and disease.", "authors": [{"family": "Mayer", "given": "Matthias P", "initials": "MP"}, {"family": "Blair", "given": "Laura", "initials": "L"}, {"family": "Blatch", "given": "Gregory L", "initials": "GL"}, {"family": "Borges", "given": "Thiago J", "initials": "TJ"}, {"family": "Chadli", "given": "Ahmed", "initials": "A"}, {"family": "Chiosis", "given": "Gabriela", "initials": "G"}, {"family": "de Thonel", "given": "Aur\u00e9lie", "initials": "A", "orcid": "0000-0003-0405-0745", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/07a4bbc138414fcc9b423a44474c94ab.json"}}, {"family": "Dinkova-Kostova", "given": "Albena", "initials": "A"}, {"family": "Ecroyd", "given": "Heath", "initials": "H"}, {"family": "Edkins", "given": "Adrienne L", "initials": "AL"}, {"family": "Eguchi", "given": "Takanori", "initials": "T"}, {"family": "Fleshner", "given": "Monika", "initials": "M"}, {"family": "Foley", "given": "Kevin P", "initials": "KP"}, {"family": "Fragkostefanakis", "given": "Sotirios", "initials": "S"}, {"family": "Gestwicki", "given": "Jason", "initials": "J"}, {"family": "Goloubinoff", "given": "Pierre", "initials": "P"}, {"family": "Heritz", "given": "Jennifer A", "initials": "JA"}, {"family": "Heske", "given": "Christine M", "initials": "CM"}, {"family": "Hibshman", "given": "Jonathan D", "initials": "JD"}, {"family": "Joutsen", "given": "Jenny", "initials": "J"}, {"family": "Li", "given": "Wei", "initials": "W", "orcid": "0000-0003-3344-1403", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8a26a8c8ad0c4fb2a03f541eac672081.json"}}, {"family": "Lynes", "given": "Michael", "initials": "M"}, {"family": "Mendillo", "given": "Marc L", "initials": "ML"}, {"family": "Mivechi", "given": "Nahid", "initials": "N"}, {"family": "Mokoena", "given": "Fortunate", "initials": "F"}, {"family": "Okusha", "given": "Yuka", "initials": "Y"}, {"family": "Prahlad", "given": "Veena", "initials": "V"}, {"family": "Repasky", "given": "Elizabeth", "initials": "E"}, {"family": "Sannino", "given": "Sara", "initials": "S"}, {"family": "Scalia", "given": "Federica", "initials": "F"}, {"family": "Shalgi", "given": "Reut", "initials": "R"}, {"family": "Sistonen", "given": "Lea", "initials": "L", "orcid": "0000-0003-1341-2867", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aafaee6a2aca4f4783add9775d660b74.json"}}, {"family": "Sontag", "given": "Emily", "initials": "E"}, {"family": "van Oosten-Hawle", "given": "Patricija", "initials": "P"}, {"family": "Vihervaara", "given": "Anniina", "initials": "A", "orcid": "0000-0001-6256-4694", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/18141880ac7c4db3a6bc41f43ec03713.json"}}, {"family": "Wickramaratne", "given": "Anushka", "initials": "A"}, {"family": "Wang", "given": "Shawn Xiang Yang", "initials": "SXY"}, {"family": "Zininga", "given": "Tawanda", "initials": "T"}], "type": "congress", "published": "2024-02-00", "journal": {"title": "Cell Stress Chaperones", "issn": "1466-1268", "volume": "29", "issue": "1", "pages": "143-157", "issn-l": null}, "abstract": "Preserving and regulating cellular homeostasis in the light of changing environmental conditions or developmental processes is of pivotal importance for single cellular and multicellular organisms alike. To counteract an imbalance in cellular homeostasis transcriptional programs evolved, called the heat shock response, unfolded protein response, and integrated stress response, that act cell-autonomously in most cells but in multicellular organisms are subjected to cell-nonautonomous regulation. These transcriptional programs downregulate the expression of most genes but increase the expression of heat shock genes, including genes encoding molecular chaperones and proteases, proteins involved in the repair of stress-induced damage to macromolecules and cellular structures. Sixty-one years after the discovery of the heat shock response by Ferruccio Ritossa, many aspects of stress biology are still enigmatic. Recent progress in the understanding of stress responses and molecular chaperones was reported at the 12th International Symposium on Heat Shock Proteins in Biology, Medicine and the Environment in the Old Town Alexandria, VA, USA from 28th to 31st of October 2023.", "doi": "10.1016/j.cstres.2024.01.006", "pmid": "38311120", "labels": {"Anniina Vihervaara": null, "SciLifeLab Fellow": null}, "xrefs": [{"db": "pmc", "key": "PMC10939078"}, {"db": "pii", "key": "S1355-8145(24)00046-4"}], "notes": [], "created": "2024-11-28T11:01:05.447Z", "modified": "2025-04-08T06:14:10.081Z"}, {"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"}]}