Ontology highlight
ABSTRACT:
SUBMITTER: Freyermuth F
PROVIDER: S-EPMC4831019 | biostudies-literature | 2016 Apr
REPOSITORIES: biostudies-literature
Freyermuth Fernande F Rau Frédérique F Kokunai Yosuke Y Linke Thomas T Sellier Chantal C Nakamori Masayuki M Kino Yoshihiro Y Arandel Ludovic L Jollet Arnaud A Thibault Christelle C Philipps Muriel M Vicaire Serge S Jost Bernard B Udd Bjarne B Day John W JW Duboc Denis D Wahbi Karim K Matsumura Tsuyoshi T Fujimura Harutoshi H Mochizuki Hideki H Deryckere François F Kimura Takashi T Nukina Nobuyuki N Ishiura Shoichi S Lacroix Vincent V Campan-Fournier Amandine A Navratil Vincent V Chautard Emilie E Auboeuf Didier D Horie Minoru M Imoto Keiji K Lee Kuang-Yung KY Swanson Maurice S MS de Munain Adolfo Lopez AL Inada Shin S Itoh Hideki H Nakazawa Kazuo K Ashihara Takashi T Wang Eric E Zimmer Thomas T Furling Denis D Takahashi Masanori P MP Charlet-Berguerand Nicolas N
Nature communications 20160411
Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing changes. Cardiac alterations, characterized by conduction delays and arrhythmia, are the second most common cause of death in DM. Using RNA sequencing, here we identify novel splicing alterations in DM heart samples, including a switch from adult exon 6B towards fetal exon 6A in the cardiac sodium channel, SCN5A. We fi ...[more]