Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy-Reference-Cited by-同舟云学术

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

Published:2016-04 Issue:1 Volume:7 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

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^ORCID,Deryckere François,Kimura Takashi,Nukina Nobuyuki,Ishiura Shoichi,Lacroix Vincent,Campan-Fournier Amandine,Navratil Vincent,Chautard Emilie^ORCID,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

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/ncomms11067.pdf

Reference73 articles.

1. Brook, J. D. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 68, 799–808 (1992).

2. Fu, Y. H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255, 1256–1258 (1992).

3. Mahadevan, M. et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science 255, 1253–1255 (1992).

4. Liquori, C. L. et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293, 864–867 (2001).

5. Miller, J. W. et al. Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy. EMBO J. 19, 4439–4448 (2000).

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