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Showing 1–5 of 5 results
Advanced filters: Author: Fernande Freyermuth 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

  • Myotonic Dystrophy (DM), the most common muscular dystrophy in adults, is an RNA gain-of-function disease caused by expanded CUG or CCUG repeats that sequester the RNA binding protein MBNL1. MBNL1 is now shown to regulate pre-miR-1 processing. In DM patients, MBNL1 levels are low and another protein binds to pre-miR-1 and promotes its subsequent uridylation, making it resistant to Dicer cleavage. This results in lower amounts of miR-1 and increased levels of its targets, GJA1 and CACNA1C, that encode the main calcium and gap junction channels in the heart, respectively. Thus their misregulation may contribute to the cardiac dysfunctions observed in DM patients.

    • Frédérique Rau
    • Fernande Freyermuth
    • Nicolas Charlet-Berguerand
    Research
    Nature Structural & Molecular Biology
    Volume: 18, P: 840-845

  • Repeat-associated non-AUG (RAN) translation contributes to the pathogenic mechanism of several microsatellite expansion diseases. Here the authors delineate the different steps involved in recruiting the ribosome to initiate G4C2 RAN translation to produce poly-Glycine Alanine, poly-Glycine Proline, and poly-Glycine Arginine repeats.

    • Ricardos Tabet
    • Laure Schaeffer
    • Clotilde Lagier-Tourenne
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-14

  • Myotonic dystrophy (DM) type 2 is a neuromuscular pathology caused by large expansions of CCTG repeats. Here the authors find that rbFOX1 RNA binding protein binds to CCUG RNA repeats and competes with MBNL1 for the binding to CCUG repeats, releasing MBNL1 from sequestration in DM2 muscle cells.

    • Chantal Sellier
    • Estefanía Cerro-Herreros
    • Nicolas Charlet-Berguerand
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-15