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Myotonic Dystrophy: an RNA Toxic Gain of Function Tauopathy?
Fernandez-Gomez F, Tran H, Dhaenens CM, Caillet-Boudin ML, Schraen-Maschke S, Blum D, Sablonnière B, Buée-Scherrer V, Buee L, Sergeant N. Fernandez-Gomez F, et al. Among authors: sablonniere b. Adv Exp Med Biol. 2019;1184:207-216. doi: 10.1007/978-981-32-9358-8_17. Adv Exp Med Biol. 2019. PMID: 32096040 Review.
Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: two individual consequences of CUG trinucleotide repeats.
Dhaenens CM, Schraen-Maschke S, Tran H, Vingtdeux V, Ghanem D, Leroy O, Delplanque J, Vanbrussel E, Delacourte A, Vermersch P, Maurage CA, Gruffat H, Sergeant A, Mahadevan MS, Ishiura S, Buée L, Cooper TA, Caillet-Boudin ML, Charlet-Berguerand N, Sablonnière B, Sergeant N. Dhaenens CM, et al. Among authors: sablonniere b. Exp Neurol. 2008 Apr;210(2):467-78. doi: 10.1016/j.expneurol.2007.11.020. Epub 2007 Dec 4. Exp Neurol. 2008. PMID: 18177861
Mis-splicing of Tau exon 10 in myotonic dystrophy type 1 is reproduced by overexpression of CELF2 but not by MBNL1 silencing.
Dhaenens CM, Tran H, Frandemiche ML, Carpentier C, Schraen-Maschke S, Sistiaga A, Goicoechea M, Eddarkaoui S, Van Brussels E, Obriot H, Labudeck A, Gevaert MH, Fernandez-Gomez F, Charlet-Berguerand N, Deramecourt V, Maurage CA, Buée L, Lopez de Munain A, Sablonnière B, Caillet-Boudin ML, Sergeant N. Dhaenens CM, et al. Among authors: sablonniere b. Biochim Biophys Acta. 2011 Jul;1812(7):732-42. doi: 10.1016/j.bbadis.2011.03.010. Epub 2011 Mar 23. Biochim Biophys Acta. 2011. PMID: 21439371 Free article.
MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1.
Huin V, Vasseur F, Schraen-Maschke S, Dhaenens CM, Devos P, Dupont K, Sergeant N, Buée L, Lacour A, Hofmann-Radvanyi H, Sablonnière B. Huin V, et al. Among authors: sablonniere b. J Neurol. 2013 Apr;260(4):998-1003. doi: 10.1007/s00415-012-6740-y. Epub 2012 Nov 16. J Neurol. 2013. PMID: 23161457
Altered splicing of Tau in DM1 is different from the foetal splicing process.
Ghanem D, Tran H, Dhaenens CM, Schraen-Maschke S, Sablonnière B, Buée L, Sergeant N, Caillet-Boudin ML. Ghanem D, et al. Among authors: sablonniere b. FEBS Lett. 2009 Feb 18;583(4):675-9. doi: 10.1016/j.febslet.2008.12.065. Epub 2009 Jan 21. FEBS Lett. 2009. PMID: 19166838 Free article.
Analysis of exonic regions involved in nuclear localization, splicing activity, and dimerization of Muscleblind-like-1 isoforms.
Tran H, Gourrier N, Lemercier-Neuillet C, Dhaenens CM, Vautrin A, Fernandez-Gomez FJ, Arandel L, Carpentier C, Obriot H, Eddarkaoui S, Delattre L, Van Brussels E, Holt I, Morris GE, Sablonnière B, Buée L, Charlet-Berguerand N, Schraen-Maschke S, Furling D, Behm-Ansmant I, Branlant C, Caillet-Boudin ML, Sergeant N. Tran H, et al. Among authors: sablonniere b. J Biol Chem. 2011 May 6;286(18):16435-46. doi: 10.1074/jbc.M110.194928. Epub 2011 Mar 18. J Biol Chem. 2011. PMID: 21454535 Free PMC article.
103 results