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The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
Davignon L, Chauveau C, Julien C, Dill C, Duband-Goulet I, Cabet E, Buendia B, Lilienbaum A, Rendu J, Minot MC, Guichet A, Allamand V, Vadrot N, Fauré J, Odent S, Lazaro L, Leroy JP, Marcorelles P, Dubourg O, Ferreiro A. Davignon L, et al. Among authors: cabet e. Hum Mol Genet. 2016 Apr 15;25(8):1559-73. doi: 10.1093/hmg/ddw033. Epub 2016 Feb 9. Hum Mol Genet. 2016. PMID: 27008887
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
Villar-Quiles RN, Catervi F, Cabet E, Juntas-Morales R, Genetti CA, Gidaro T, Koparir A, Yüksel A, Coppens S, Deconinck N, Pierce-Hoffman E, Lornage X, Durigneux J, Laporte J, Rendu J, Romero NB, Beggs AH, Servais L, Cossée M, Olivé M, Böhm J, Duband-Goulet I, Ferreiro A. Villar-Quiles RN, et al. Among authors: cabet e. Ann Neurol. 2020 Feb;87(2):217-232. doi: 10.1002/ana.25660. Epub 2019 Dec 27. Ann Neurol. 2020. PMID: 31794073 Free PMC article.
Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice.
Herrmann H, Cabet E, Chevalier NR, Moosmann J, Schultheis D, Haas J, Schowalter M, Berwanger C, Weyerer V, Agaimy A, Meder B, Müller OJ, Katus HA, Schlötzer-Schrehardt U, Vicart P, Ferreiro A, Dittrich S, Clemen CS, Lilienbaum A, Schröder R. Herrmann H, et al. Among authors: cabet e. Circulation. 2020 Dec;142(22):2155-2171. doi: 10.1161/CIRCULATIONAHA.120.050218. Epub 2020 Oct 7. Circulation. 2020. PMID: 33023321 Free article.
Desmin Modulates Muscle Cell Adhesion and Migration.
Hakibilen C, Delort F, Daher MT, Joanne P, Cabet E, Cardoso O, Bourgois-Rocha F, Tian C, Rivas E, Madruga M, Ferreiro A, Lilienbaum A, Vicart P, Agbulut O, Hénon S, Batonnet-Pichon S. Hakibilen C, et al. Among authors: cabet e. Front Cell Dev Biol. 2022 Mar 8;10:783724. doi: 10.3389/fcell.2022.783724. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35350386 Free PMC article.
Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy.
Filipe A, Chernorudskiy A, Arbogast S, Varone E, Villar-Quiles RN, Pozzer D, Moulin M, Fumagalli S, Cabet E, Dudhal S, De Simoni MG, Denis R, Vadrot N, Dill C, Giovarelli M, Szweda L, De Palma C, Pinton P, Giorgi C, Viscomi C, Clementi E, Missiroli S, Boncompagni S, Zito E, Ferreiro A. Filipe A, et al. Among authors: cabet e. Cell Death Differ. 2021 Jan;28(1):123-138. doi: 10.1038/s41418-020-0587-z. Epub 2020 Jul 13. Cell Death Differ. 2021. PMID: 32661288 Free PMC article.
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