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Page 1
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.
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.
Ferreboeuf M, Mariot V, Bessières B, Vasiljevic A, Attié-Bitach T, Collardeau S, Morere J, Roche S, Magdinier F, Robin-Ducellier J, Rameau P, Whalen S, Desnuelle C, Sacconi S, Mouly V, Butler-Browne G, Dumonceaux J. Ferreboeuf M, et al. Among authors: mouly v. Hum Mol Genet. 2014 Jan 1;23(1):171-81. doi: 10.1093/hmg/ddt409. Epub 2013 Aug 20. Hum Mol Genet. 2014. PMID: 23966205 Free article.
DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation.
Ansseau E, Laoudj-Chenivesse D, Marcowycz A, Tassin A, Vanderplanck C, Sauvage S, Barro M, Mahieu I, Leroy A, Leclercq I, Mainfroid V, Figlewicz D, Mouly V, Butler-Browne G, Belayew A, Coppée F. Ansseau E, et al. Among authors: mouly v. PLoS One. 2009 Oct 15;4(10):e7482. doi: 10.1371/journal.pone.0007482. PLoS One. 2009. PMID: 19829708 Free PMC article.
miRNA expression in control and FSHD fetal human muscle biopsies.
Portilho DM, Alves MR, Kratassiouk G, Roche S, Magdinier F, de Santana EC, Polesskaya A, Harel-Bellan A, Mouly V, Savino W, Butler-Browne G, Dumonceaux J. Portilho DM, et al. Among authors: mouly v. PLoS One. 2015 Feb 18;10(2):e0116853. doi: 10.1371/journal.pone.0116853. eCollection 2015. PLoS One. 2015. PMID: 25692472 Free PMC article.
Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis.
Chartier A, Klein P, Pierson S, Barbezier N, Gidaro T, Casas F, Carberry S, Dowling P, Maynadier L, Bellec M, Oloko M, Jardel C, Moritz B, Dickson G, Mouly V, Ohlendieck K, Butler-Browne G, Trollet C, Simonelig M. Chartier A, et al. Among authors: mouly v. PLoS Genet. 2015 Mar 27;11(3):e1005092. doi: 10.1371/journal.pgen.1005092. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25816335 Free PMC article.
[Nuclear aggregates in oculopharyngeal muscular dystrophy].
Boulinguiez A, Roth F, Mouigni HR, Butler-Browne G, Mouly V, Trollet C. Boulinguiez A, et al. Among authors: mouly v. Med Sci (Paris). 2022 Dec;38 Hors série n° 1:13-16. doi: 10.1051/medsci/2022175. Epub 2023 Jan 16. Med Sci (Paris). 2022. PMID: 36649629 Free article. French.
217 results