Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
Patients with myotonic dystrophy (MD) suffer from severe cardiac issues of unknown aetiology. Freyermuth et al. show that fatal changes in cardiac electrophysiological properties in humans and mice with MD may arise from misregulation of the alternative splicing of the cardiac Na+ channel SCN5Atrans...
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Nature Portfolio
2016
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oai:doaj.org-article:72afc8d9128643c28fcf74d35cc006422021-12-02T14:39:12ZSplicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy10.1038/ncomms110672041-1723https://doaj.org/article/72afc8d9128643c28fcf74d35cc006422016-04-01T00:00:00Zhttps://doi.org/10.1038/ncomms11067https://doaj.org/toc/2041-1723Patients with myotonic dystrophy (MD) suffer from severe cardiac issues of unknown aetiology. Freyermuth et al. show that fatal changes in cardiac electrophysiological properties in humans and mice with MD may arise from misregulation of the alternative splicing of the cardiac Na+ channel SCN5Atranscript, resulting in expression of its fetal form.Fernande FreyermuthFrédérique RauYosuke KokunaiThomas LinkeChantal SellierMasayuki NakamoriYoshihiro KinoLudovic ArandelArnaud JolletChristelle ThibaultMuriel PhilippsSerge VicaireBernard JostBjarne UddJohn W. DayDenis DubocKarim WahbiTsuyoshi MatsumuraHarutoshi FujimuraHideki MochizukiFrançois DeryckereTakashi KimuraNobuyuki NukinaShoichi IshiuraVincent LacroixAmandine Campan-FournierVincent NavratilEmilie ChautardDidier AuboeufMinoru HorieKeiji ImotoKuang-Yung LeeMaurice S. SwansonAdolfo Lopez de MunainShin InadaHideki ItohKazuo NakazawaTakashi AshiharaEric WangThomas ZimmerDenis FurlingMasanori P. TakahashiNicolas Charlet-BerguerandNature PortfolioarticleScienceQENNature Communications, Vol 7, Iss 1, Pp 1-14 (2016) |
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Science Q Fernande Freyermuth Frédérique Rau Yosuke Kokunai Thomas Linke Chantal Sellier Masayuki Nakamori Yoshihiro Kino Ludovic Arandel Arnaud Jollet Christelle Thibault Muriel Philipps Serge Vicaire Bernard Jost Bjarne Udd John W. Day Denis Duboc Karim Wahbi Tsuyoshi Matsumura Harutoshi Fujimura Hideki Mochizuki François Deryckere Takashi Kimura Nobuyuki Nukina Shoichi Ishiura Vincent Lacroix Amandine Campan-Fournier Vincent Navratil Emilie Chautard Didier Auboeuf Minoru Horie Keiji Imoto Kuang-Yung Lee Maurice S. Swanson Adolfo Lopez de Munain Shin Inada Hideki Itoh Kazuo Nakazawa Takashi Ashihara Eric Wang Thomas Zimmer Denis Furling Masanori P. Takahashi Nicolas Charlet-Berguerand Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy |
| description |
Patients with myotonic dystrophy (MD) suffer from severe cardiac issues of unknown aetiology. Freyermuth et al. show that fatal changes in cardiac electrophysiological properties in humans and mice with MD may arise from misregulation of the alternative splicing of the cardiac Na+ channel SCN5Atranscript, resulting in expression of its fetal form. |
| format |
article |
| author |
Fernande Freyermuth Frédérique Rau Yosuke Kokunai Thomas Linke Chantal Sellier Masayuki Nakamori Yoshihiro Kino Ludovic Arandel Arnaud Jollet Christelle Thibault Muriel Philipps Serge Vicaire Bernard Jost Bjarne Udd John W. Day Denis Duboc Karim Wahbi Tsuyoshi Matsumura Harutoshi Fujimura Hideki Mochizuki François Deryckere Takashi Kimura Nobuyuki Nukina Shoichi Ishiura Vincent Lacroix Amandine Campan-Fournier Vincent Navratil Emilie Chautard Didier Auboeuf Minoru Horie Keiji Imoto Kuang-Yung Lee Maurice S. Swanson Adolfo Lopez de Munain Shin Inada Hideki Itoh Kazuo Nakazawa Takashi Ashihara Eric Wang Thomas Zimmer Denis Furling Masanori P. Takahashi Nicolas Charlet-Berguerand |
| author_facet |
Fernande Freyermuth Frédérique Rau Yosuke Kokunai Thomas Linke Chantal Sellier Masayuki Nakamori Yoshihiro Kino Ludovic Arandel Arnaud Jollet Christelle Thibault Muriel Philipps Serge Vicaire Bernard Jost Bjarne Udd John W. Day Denis Duboc Karim Wahbi Tsuyoshi Matsumura Harutoshi Fujimura Hideki Mochizuki François Deryckere Takashi Kimura Nobuyuki Nukina Shoichi Ishiura Vincent Lacroix Amandine Campan-Fournier Vincent Navratil Emilie Chautard Didier Auboeuf Minoru Horie Keiji Imoto Kuang-Yung Lee Maurice S. Swanson Adolfo Lopez de Munain Shin Inada Hideki Itoh Kazuo Nakazawa Takashi Ashihara Eric Wang Thomas Zimmer Denis Furling Masanori P. Takahashi Nicolas Charlet-Berguerand |
| author_sort |
Fernande Freyermuth |
| title |
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy |
| title_short |
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy |
| title_full |
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy |
| title_fullStr |
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy |
| title_full_unstemmed |
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy |
| title_sort |
splicing misregulation of scn5a contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy |
| publisher |
Nature Portfolio |
| publishDate |
2016 |
| url |
https://doaj.org/article/72afc8d9128643c28fcf74d35cc00642 |
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