Article
A defective Krab-domain zinc-finger transcription factor contributes to altered myogenesis in myotonic dystrophy type 1.
Human molecular genetics - 20 Dec 2013
Gauthier Morgane, Marteyn Antoine, Denis Jérôme Alexandre, Cailleret Michel, Giraud-Triboult Karine, Aubert Sophie, Lecuyer Camille, Marie Joelle, Furling Denis, Vernet Rémi, Yanguas Clara, Baldeschi Christine, Pietu Geneviève, Peschanski Marc, Martinat Cécile
Abstract excerpt
Myotonic dystrophy type 1 (DM1) is an RNA-mediated disorder caused by a non-coding CTG repeat expansion that, in particular, provokes functional alteration of CUG-binding proteins. As a consequence, several genes with misregulated alternative splicing have been linked to clinical symptoms. In our search for additional molecular mechanisms that would trigger functional defects in DM1, we took advantage of mutant...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.