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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: labudeck a. 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.
Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by MBNL1 and MBNL2.
Carpentier C, Ghanem D, Fernandez-Gomez FJ, Jumeau F, Philippe JV, Freyermuth F, Labudeck A, Eddarkaoui S, Dhaenens CM, Holt I, Behm-Ansmant I, Marmier-Gourrier N, Branlant C, Charlet-Berguerand N, Marie J, Schraen-Maschke S, Buée L, Sergeant N, Caillet-Boudin ML. Carpentier C, et al. Among authors: labudeck a. Biochim Biophys Acta. 2014 Apr;1842(4):654-64. doi: 10.1016/j.bbadis.2014.01.004. Epub 2014 Jan 14. Biochim Biophys Acta. 2014. PMID: 24440524 Free article.