Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

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 dea...

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Publicado no:Nat Commun
Main Authors: Freyermuth, Fernande, Rau, Frédérique, Kokunai, Yosuke, Linke, Thomas, Sellier, Chantal, Nakamori, Masayuki, Kino, Yoshihiro, Arandel, Ludovic, Jollet, Arnaud, Thibault, Christelle, Philipps, Muriel, Vicaire, Serge, Jost, Bernard, Udd, Bjarne, Day, John W., Duboc, Denis, Wahbi, Karim, Matsumura, Tsuyoshi, Fujimura, Harutoshi, Mochizuki, Hideki, Deryckere, François, Kimura, Takashi, Nukina, Nobuyuki, Ishiura, Shoichi, Lacroix, Vincent, Campan-Fournier, Amandine, Navratil, Vincent, Chautard, Emilie, Auboeuf, Didier, Horie, Minoru, Imoto, Keiji, Lee, Kuang-Yung, Swanson, Maurice S., de Munain, Adolfo Lopez, Inada, Shin, Itoh, Hideki, Nakazawa, Kazuo, Ashihara, Takashi, Wang, Eric, Zimmer, Thomas, Furling, Denis, Takahashi, Masanori P., Charlet-Berguerand, Nicolas
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4831019/
https://ncbi.nlm.nih.gov/pubmed/27063795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms11067
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