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Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
Roth F, Dhiab J, Boulinguiez A, Mouigni HR, Lassche S, Negroni E, Muraine L, Marhic A, Oliver A, Lainé J, Rouche A, O'Ferrall EK, van Engelen B, Ottenheijm C, Greif H, Blumen S, Lacau St Guily J, Perie S, Butler-Browne G, Mouly V, Trollet C. Roth F, et al. Acta Neuropathol. 2022 Dec;144(6):1157-1170. doi: 10.1007/s00401-022-02503-7. Epub 2022 Oct 5. Acta Neuropathol. 2022. PMID: 36197469 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: roth f. Hum Mol Genet. 2019 May 15;28(10):1694-1708. doi: 10.1093/hmg/ddz007. Hum Mol Genet. 2019. PMID: 30649389
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: roth f. 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.
BB-301: a silence and replace AAV-based vector for the treatment of oculopharyngeal muscular dystrophy.
Strings-Ufombah V, Malerba A, Kao SC, Harbaran S, Roth F, Cappellari O, Lu-Nguyen N, Takahashi K, Mukadam S, Kilfoil G, Kloth C, Roelvink P, Dickson G, Trollet C, Suhy D. Strings-Ufombah V, et al. Among authors: roth f. Mol Ther Nucleic Acids. 2021 Feb 18;24:67-78. doi: 10.1016/j.omtn.2021.02.017. eCollection 2021 Jun 4. Mol Ther Nucleic Acids. 2021. PMID: 33738139 Free PMC article.
Regenerating islet-derived protein 3α: A promising therapy for diabetes. Preliminary data in rodents and in humans.
Le Lay A, Philippe E, Roth F, Sanchez-Archidona AR, Mehl F, Denom J, Prasad R, Asplund O, Hansson O, Ibberson M, Andreelli F, Santoro L, Amouyal P, Amouyal G, Brechot C, Jamot L, Cruciani-Guglielmacci C, Magnan C. Le Lay A, et al. Among authors: roth f. Heliyon. 2022 Jul 16;8(7):e09944. doi: 10.1016/j.heliyon.2022.e09944. eCollection 2022 Jul. Heliyon. 2022. PMID: 35874080 Free PMC article.
Guidelines for releasing a variant effect predictor.
Livesey BJ, Badonyi M, Dias M, Frazer J, Kumar S, Lindorff-Larsen K, McCandlish DM, Orenbuch R, Shearer CA, Muffley L, Foreman J, Glazer AM, Lehner B, Marks DS, Roth FP, Rubin AF, Starita LM, Marsh JA. Livesey BJ, et al. Among authors: roth fp. ArXiv [Preprint]. 2024 Apr 16:arXiv:2404.10807v1. ArXiv. 2024. PMID: 38699161 Free PMC article. Preprint.
Minimum information and guidelines for reporting a multiplexed assay of variant effect.
Claussnitzer M, Parikh VN, Wagner AH, Arbesfeld JA, Bult CJ, Firth HV, Muffley LA, Nguyen Ba AN, Riehle K, Roth FP, Tabet D, Bolognesi B, Glazer AM, Rubin AF. Claussnitzer M, et al. Among authors: roth fp. Genome Biol. 2024 Apr 19;25(1):100. doi: 10.1186/s13059-024-03223-9. Genome Biol. 2024. PMID: 38641812 Free PMC article.
759 results