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Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

Author

Listed:
  • Davide Gabellini

    (University of Massachusetts Medical School)

  • Giuseppe D'Antona

    (Università degli Studi di Pavia)

  • Maurizio Moggio

    (Università degli Studi di Milano, I.R.C.C.S. Fondazione Ospedale Maggiore)

  • Alessandro Prelle

    (Università degli Studi di Milano, I.R.C.C.S. Fondazione Ospedale Maggiore)

  • Chiara Zecca

    (Università degli Studi di Milano, I.R.C.C.S. Fondazione Ospedale Maggiore)

  • Raffaella Adami

    (Università degli Studi di Pavia)

  • Barbara Angeletti

    (Università degli Studi di Pavia
    Università degli Studi di Modena e Reggio Emilia)

  • Patrizia Ciscato

    (Università degli Studi di Milano, I.R.C.C.S. Fondazione Ospedale Maggiore)

  • Maria Antonietta Pellegrino

    (Università degli Studi di Pavia)

  • Roberto Bottinelli

    (Università degli Studi di Pavia)

  • Michael R. Green

    (University of Massachusetts Medical School)

  • Rossella Tupler

    (University of Massachusetts Medical School
    Università degli Studi di Pavia
    Università degli Studi di Modena e Reggio Emilia)

Abstract

Muscular dystrophy model Facioscapulohumeral muscular dystrophy is a human muscle disorder linked to deletions of a repeat unit on chromosome 4. An experiment in which transgenic mice were engineered to overexpress three skeletal muscle genes linked to this deletion shows that overexpression of one of them, FRG1, causes the signs of muscular dystrophy. Too much FRG1 leads to abnormal splicing of pre-mRNAs in skeletal muscle. Future studies will explore how this leads to abnormal spine curvature and other symptoms. And the availability of a mouse model for this type of muscular dystrophy will be of value in evaluating therapeutic strategies.

Suggested Citation

  • Davide Gabellini & Giuseppe D'Antona & Maurizio Moggio & Alessandro Prelle & Chiara Zecca & Raffaella Adami & Barbara Angeletti & Patrizia Ciscato & Maria Antonietta Pellegrino & Roberto Bottinelli & , 2006. "Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1," Nature, Nature, vol. 439(7079), pages 973-977, February.
    • Handle: RePEc:nat:nature:v:439:y:2006:i:7079:d:10.1038_nature04422
    DOI: 10.1038/nature04422
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