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Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing.
Klein P, Oloko M, Roth F, Montel V, Malerba A, Jarmin S, Gidaro T, Popplewell L, Perie S, Lacau St Guily J, de la Grange P, Antoniou MN, Dickson G, Butler-Browne G, Bastide B, Mouly V, Trollet C. Klein P, et al. Among authors: dickson g. Nucleic Acids Res. 2016 Dec 15;44(22):10929-10945. doi: 10.1093/nar/gkw703. Epub 2016 Aug 9. Nucleic Acids Res. 2016. PMID: 27507886 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: dickson g. 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.
PABPN1 gene therapy for oculopharyngeal muscular dystrophy.
Malerba A, Klein P, Bachtarzi H, Jarmin SA, Cordova G, Ferry A, Strings V, Espinoza MP, Mamchaoui K, Blumen SC, St Guily JL, Mouly V, Graham M, Butler-Browne G, Suhy DA, Trollet C, Dickson G. Malerba A, et al. Among authors: dickson g. Nat Commun. 2017 Mar 31;8:14848. doi: 10.1038/ncomms14848. Nat Commun. 2017. PMID: 28361972 Free PMC article.
Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres.
Trollet C, Anvar SY, Venema A, Hargreaves IP, Foster K, Vignaud A, Ferry A, Negroni E, Hourde C, Baraibar MA, 't Hoen PA, Davies JE, Rubinsztein DC, Heales SJ, Mouly V, van der Maarel SM, Butler-Browne G, Raz V, Dickson G. Trollet C, et al. Among authors: dickson g. Hum Mol Genet. 2010 Jun 1;19(11):2191-207. doi: 10.1093/hmg/ddq098. Epub 2010 Mar 5. Hum Mol Genet. 2010. PMID: 20207626
Delivery of AAV2/9-microdystrophin genes incorporating helix 1 of the coiled-coil motif in the C-terminal domain of dystrophin improves muscle pathology and restores the level of α1-syntrophin and α-dystrobrevin in skeletal muscles of mdx mice.
Koo T, Malerba A, Athanasopoulos T, Trollet C, Boldrin L, Ferry A, Popplewell L, Foster H, Foster K, Dickson G. Koo T, et al. Among authors: dickson g. Hum Gene Ther. 2011 Nov;22(11):1379-88. doi: 10.1089/hum.2011.020. Epub 2011 May 25. Hum Gene Ther. 2011. PMID: 21453126 Free PMC article.
449 results