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Myotonic dystrophy

  • RESEARCH ARTICLE
    Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration
    Ivana Prokic, Belinda S. Cowling, Candice Kutchukian, Christine Kretz, Hichem Tasfaout, Vincent Gache, Josiane Hergueux, Olivia Wendling, Arnaud Ferry, Anne Toussaint, Christos Gavriilidis, Vasugi Nattarayan, Catherine Koch, Jeanne Lainé, Roy Combe, Laurent Tiret, Vincent Jacquemond, Fanny Pilot-Storck, Jocelyn Laporte
    Disease Models & Mechanisms 2020 13: dmm044354 doi: 10.1242/dmm.044354 Published 24 November 2020

    Summary: The BIN1 gene, mutated in centronuclear myopathies, expresses ubiquitous and muscle-specific isoforms. It is shown here that ubiquitous isoforms are necessary for muscle development, whereas muscle-specific isoforms fine-tune muscle regeneration.

  • RESOURCE ARTICLE
    Recapitulating muscle disease phenotypes with myotonic dystrophy 1 induced pluripotent stem cells: a tool for disease modeling and drug discovery
    Ricardo Mondragon-Gonzalez, Rita C. R. Perlingeiro
    Disease Models & Mechanisms 2018 11: dmm034728 doi: 10.1242/dmm.034728 Published 18 July 2018

    Summary: This work provides proof of principle for the use of myotonic dystrophy 1 patient-specific induced pluripotent stem cells to model muscle pathology in vitro and in drug discovery.

  • RESEARCH ARTICLE
    Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy
    Mouli Chakraborty, Chantal Sellier, Michel Ney, Villa Pascal, Nicolas Charlet-Berguerand, Ruben Artero, Beatriz Llamusi
    Disease Models & Mechanisms 2018 11: dmm032557 doi: 10.1242/dmm.032557 Published 23 April 2018

    Summary: MBNL protein sequestration by expanded CUG RNA contributes towards cardiac dysfunction in a myotonic dystrophy Drosophila model. Here, the authors identify the anticancer drug daunorubicin as a candidate therapeutic for the disease.

  • RESEARCH ARTICLE
    (CCUG)n RNA toxicity in a Drosophila model of myotonic dystrophy type 2 (DM2) activates apoptosis
    Vildan Betul Yenigun, Mario Sirito, Alla Amcheslavky, Tomek Czernuszewicz, Jordi Colonques-Bellmunt, Irma García-Alcover, Marzena Wojciechowska, Clare Bolduc, Zhihong Chen, Arturo López Castel, Ralf Krahe, Andreas Bergmann
    Disease Models & Mechanisms 2017 10: 993-1003; doi: 10.1242/dmm.026179

    Summary: A Drosophila model of myotonic dystrophy type 2 (DM2) recapitulates several features of the human disease, identifies apoptosis as a contributing factor to DM2, and is likely to provide a convenient tool for drug screening.

  • RESOURCE ARTICLE
    Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds
    Ludovic Arandel, Micaela Polay Espinoza, Magdalena Matloka, Audrey Bazinet, Damily De Dea Diniz, Naïra Naouar, Frédérique Rau, Arnaud Jollet, Frédérique Edom-Vovard, Kamel Mamchaoui, Mark Tarnopolsky, Jack Puymirat, Christophe Battail, Anne Boland, Jean-Francois Deleuze, Vincent Mouly, Arnaud F. Klein, Denis Furling
    Disease Models & Mechanisms 2017 10: 487-497; doi: 10.1242/dmm.027367

    Summary: Myotonic dystrophy muscle cell models displaying characteristic disease-associated molecular features can be used to investigate molecular pathophysiological mechanisms and evaluate therapeutic approaches.

  • RESEARCH ARTICLE
    Pentamidine rescues contractility and rhythmicity in a Drosophila model of myotonic dystrophy heart dysfunction
    Mouli Chakraborty, Estela Selma-Soriano, Emile Magny, Juan Pablo Couso, Manuel Pérez-Alonso, Nicolas Charlet-Berguerand, Ruben Artero, Beatriz Llamusi
    Disease Models & Mechanisms 2015 8: 1569-1578; doi: 10.1242/dmm.021428

    Summary: The authors characterize a cardiac-dysfunction model of DM1 in Drosophila, and show that pentamidine rescues both contractility and rhythmicity.

  • RESOURCE ARTICLE
    Development of a Drosophila melanogaster spliceosensor system for in vivo high-throughput screening in myotonic dystrophy type 1
    Irma García-Alcover, Jordi Colonques-Bellmunt, Raquel Garijo, José R. Tormo, Rubén Artero, Mari Carmen Álvarez-Abril, Arturo López Castel, Manuel Pérez-Alonso
    Disease Models & Mechanisms 2014 7: 1297-1306; doi: 10.1242/dmm.016592

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