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Showing 1–10 of 10 results
Advanced filters: Author: Denis Furling Clear advanced filters

  • Myotonic dystrophy type 1 (DM1), a multisystem disorder affecting skeletal and smooth muscle and other essential systems, belongs to a group of RNA gain-of-function disorders caused by the expansion of a CUG trinucleotide repeat (CUGexp) in the 3' untranslated region of the DM protein kinase (DMPK) gene. Furling and coworkers have developed an optimized human U7-snRNA containing a poly-CAG antisense sequence to target the CUGexp RNAs. These constructs cause specific degradation of pathogenic but not wild-type DMPK RNA products. By abolishing the RNA gain-of-function toxicity responsible for pathogenesis, these hU7-snRNAs could affect gene silencing in other RNA-dominant disorders expressing expanded repeats.

    • Virginie François
    • Arnaud F Klein
    • Denis Furling
    Research
    Nature Structural & Molecular Biology
    Volume: 18, P: 85-87

  • 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

  • Dimeric bis-benzimidazole compounds that bind selectively to toxic expanded r(CUG) RNA repeat sequences were identified and used as a scaffold for covalent modification, site-specific cleavage and on-target assembly of imaging reagents at expanded r(CUG) sequences in cells.

    • Suzanne G Rzuczek
    • Lesley A Colgan
    • Matthew D Disney
    Research
    Nature Chemical Biology
    Volume: 13, P: 188-193

  • 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

  • The sustained expression of RNA-targeting Cas9 delivered intramuscularly or systemically by adeno-associated viral vectors eliminates pathogenic foci of expanded-repeat transcripts and reverses muscle-disease phenotypes in mouse models of myotonic dystrophy type 1.

    • Denis Furling
    News & Views
    Nature Biomedical Engineering
    Volume: 5, P: 130-131

  • 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

  • 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

  • Myotonic dystrophy is a slowly progressing muscle disease marked by muscle wasting and myotonia. Nicolas Charlet-Berguerand and his colleagues have found that the myotonia component of the disease is probably due to missplicing of BIN1 RNA, resulting in malformation of T tubules in skeletal muscle and disruption of the excitation-contraction coupling machinery.

    • Charlotte Fugier
    • Arnaud F Klein
    • Nicolas Charlet-Berguerand
    Research
    Nature Medicine
    Volume: 17, P: 720-725