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HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.
Tedesco B, Vendredy L, Adriaenssens E, Cozzi M, Asselbergh B, Crippa V, Cristofani R, Rusmini P, Ferrari V, Casarotto E, Chierichetti M, Mina F, Pramaggiore P, Galbiati M, Piccolella M, Baets J, Baeke F, De Rycke R, Mouly V, Laurenzi T, Eberini I, Vihola A, Udd B, Weiss L, Kimonis V, Timmerman V, Poletti A. Tedesco B, et al. Among authors: mouly v. Autophagy. 2023 Aug;19(8):2217-2239. doi: 10.1080/15548627.2023.2179780. Epub 2023 Feb 28. Autophagy. 2023. PMID: 36854646 Free PMC article.
Erratum: Immortalized human myotonic dystrophy type 1 muscle cell lines to address patient heterogeneity.
Núñez-Manchón J, Capó J, Martínez-Piñeiro A, Juanola E, Pesovic J, Mosqueira-Martín L, González-Imaz K, Maestre-Mora P, Odria R, Cerro-Herreros E, Naldaiz-Gastesi N, López de Munain A, Artero R, Savic-Pavicevic D, Vallejo-Illarramendi A, Mamchaoui K, Bigot A, Mouly V, Suelves M, Nogales-Gadea G. Núñez-Manchón J, et al. Among authors: mouly v. iScience. 2024 Dec 9;27(12):111499. doi: 10.1016/j.isci.2024.111499. eCollection 2024 Dec 20. iScience. 2024. PMID: 39735432 Free PMC article.
Author Correction: Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy.
Galli F, Bragg L, Rossi M, Proietti D, Perani L, Bacigaluppi M, Tonlorenzi R, Sibanda T, Caffarini M, Talapatra A, Santoleri S, Meregalli M, Bano-Otalora B, Bigot A, Bozzoni I, Bonini C, Mouly V, Torrente Y, Cossu G. Galli F, et al. Among authors: mouly v. EMBO Mol Med. 2024 Oct;16(10):2654. doi: 10.1038/s44321-024-00134-x. EMBO Mol Med. 2024. PMID: 39242974 Free PMC article.
Different outcomes of endurance and resistance exercise in skeletal muscles of Oculopharyngeal muscular dystrophy.
Boulinguiez A, Dhiab J, Crisol B, Muraine L, Gaut L, Rouxel C, Flaire J, Mouigni HR, Lemaitre M, Giroux B, Audoux L, SaintPierre B, Ferry A, Mouly V, Butler-Browne G, Negroni E, Malerba A, Trollet C. Boulinguiez A, et al. Among authors: mouly v. J Cachexia Sarcopenia Muscle. 2024 Oct;15(5):1976-1988. doi: 10.1002/jcsm.13546. Epub 2024 Aug 7. J Cachexia Sarcopenia Muscle. 2024. PMID: 39113268 Free PMC article.
Immortalized human myotonic dystrophy type 1 muscle cell lines to address patient heterogeneity.
Núñez-Manchón J, Capó J, Martínez-Piñeiro A, Juanola E, Pesovic J, Mosqueira-Martín L, González-Imaz K, Maestre-Mora P, Odria R, Savic-Pavicevic D, Vallejo-Illarramendi A, Mamchaoui K, Bigot A, Mouly V, Suelves M, Nogales-Gadea G. Núñez-Manchón J, et al. Among authors: mouly v. iScience. 2024 May 7;27(6):109930. doi: 10.1016/j.isci.2024.109930. eCollection 2024 Jun 21. iScience. 2024. PMID: 38832025 Free PMC article.
DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis.
Engal E, Sharma A, Aviel U, Taqatqa N, Juster S, Jaffe-Herman S, Bentata M, Geminder O, Gershon A, Lewis R, Kay G, Hecht M, Epsztejn-Litman S, Gotkine M, Mouly V, Eiges R, Salton M, Drier Y. Engal E, et al. Among authors: mouly v. Sci Adv. 2024 May 31;10(22):eadn7732. doi: 10.1126/sciadv.adn7732. Epub 2024 May 29. Sci Adv. 2024. PMID: 38809976 Free PMC article.
Differentiation shifts from a reversible to an irreversible heterochromatin state at the DM1 locus.
Handal T, Juster S, Abu Diab M, Yanovsky-Dagan S, Zahdeh F, Aviel U, Sarel-Gallily R, Michael S, Bnaya E, Sebban S, Buganim Y, Drier Y, Mouly V, Kubicek S, van den Broek WJAA, Wansink DG, Epsztejn-Litman S, Eiges R. Handal T, et al. Among authors: mouly v. Nat Commun. 2024 Apr 16;15(1):3270. doi: 10.1038/s41467-024-47217-4. Nat Commun. 2024. PMID: 38627364 Free PMC article.
Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy.
Galli F, Bragg L, Rossi M, Proietti D, Perani L, Bacigaluppi M, Tonlorenzi R, Sibanda T, Caffarini M, Talapatra A, Santoleri S, Meregalli M, Bano-Otalora B, Bigot A, Bozzoni I, Bonini C, Mouly V, Torrente Y, Cossu G. Galli F, et al. Among authors: mouly v. EMBO Mol Med. 2024 Apr;16(4):927-944. doi: 10.1038/s44321-024-00031-3. Epub 2024 Mar 4. EMBO Mol Med. 2024. PMID: 38438561 Free PMC article.
215 results