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Showing 1–2 of 2 results
Advanced filters: Author: Kuang-Yung Lee Clear advanced filters

  • 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.

    • Fernande Freyermuth
    • Frédérique Rau
    • Nicolas Charlet-Berguerand
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-14

  • The splicing of the penultimate exon of the dystrophin gene is developmentally regulated. Here the authors show that the dysregulation of this exon’s splicing leads to the expression of an embryonic dystrophin form with a C-terminus distinct from the adult isoform, which leads to muscle wasting in zebrafish and mice.

    • Frédérique Rau
    • Jeanne Lainé
    • Denis Furling
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-10