Ontology highlight
ABSTRACT:
SUBMITTER: Klinck R
PROVIDER: S-EPMC4161394 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Klinck Roscoe R Fourrier Angélique A Thibault Philippe P Toutant Johanne J Durand Mathieu M Lapointe Elvy E Caillet-Boudin Marie-Laure ML Sergeant Nicolas N Gourdon Geneviève G Meola Giovanni G Furling Denis D Puymirat Jack J Chabot Benoit B
PloS one 20140911 9
With the goal of identifying splicing alterations in myotonic dystrophy 1 (DM1) tissues that may yield insights into targets or mechanisms, we have surveyed mis-splicing events in three systems using a RT-PCR screening and validation platform. First, a transgenic mouse model expressing CUG-repeats identified splicing alterations shared with other mouse models of DM1. Second, using cell cultures from human embryonic muscle, we noted that DM1-associated splicing alterations were significantly enri ...[more]