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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: jarmin s. 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.
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: jarmin sa. Nat Commun. 2017 Mar 31;8:14848. doi: 10.1038/ncomms14848. Nat Commun. 2017. PMID: 28361972 Free PMC article.
Pharmacological modulation of the ER stress response ameliorates oculopharyngeal muscular dystrophy.
Malerba A, Roth F, Harish P, Dhiab J, Lu-Nguyen N, Cappellari O, Jarmin S, Mahoudeau A, Ythier V, Lainé J, Negroni E, Abgueguen E, Simonelig M, Guedat P, Mouly V, Butler-Browne G, Voisset C, Dickson G, Trollet C. Malerba A, et al. Among authors: jarmin s. Hum Mol Genet. 2019 May 15;28(10):1694-1708. doi: 10.1093/hmg/ddz007. Hum Mol Genet. 2019. PMID: 30649389
piggyBac transposons expressing full-length human dystrophin enable genetic correction of dystrophic mesoangioblasts.
Loperfido M, Jarmin S, Dastidar S, Di Matteo M, Perini I, Moore M, Nair N, Samara-Kuko E, Athanasopoulos T, Tedesco FS, Dickson G, Sampaolesi M, VandenDriessche T, Chuah MK. Loperfido M, et al. Among authors: jarmin s. Nucleic Acids Res. 2016 Jan 29;44(2):744-60. doi: 10.1093/nar/gkv1464. Epub 2015 Dec 17. Nucleic Acids Res. 2016. PMID: 26682797 Free PMC article.
Antisense pre-treatment increases gene therapy efficacy in dystrophic muscles.
Peccate C, Mollard A, Le Hir M, Julien L, McClorey G, Jarmin S, Le Heron A, Dickson G, Benkhelifa-Ziyyat S, Piétri-Rouxel F, Wood MJ, Voit T, Lorain S. Peccate C, et al. Among authors: jarmin s. Hum Mol Genet. 2016 Aug 15;25(16):3555-3563. doi: 10.1093/hmg/ddw201. Epub 2016 Jul 4. Hum Mol Genet. 2016. PMID: 27378686
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