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Cellular models

  • RESEARCH ARTICLE
    Absence of p.R50X Pygm read-through in McArdle disease cellular models
    Guillermo Tarrasó, Alberto Real-Martinez, Marta Parés, Lídia Romero-Cortadellas, Laura Puigros, Laura Moya, Noemí de Luna, Astrid Brull, Miguel Angel Martín, Joaquin Arenas, Alejandro Lucia, Antoni L. Andreu, Jordi Barquinero, John Vissing, Thomas O. Krag, Tomàs Pinós
    Disease Models & Mechanisms 2020 13: dmm043281 doi: 10.1242/dmm.043281 Published 13 January 2020

    Summary: Here, we evaluated the efficiency of different read-through agents in McArdle disease cell culture models, revealing that read-through compounds do not restore full-length muscle glycogen phosphorylase.

  • REVIEW
    Therapeutic strategies for spinal muscular atrophy: SMN and beyond
    Melissa Bowerman, Catherina G. Becker, Rafael J. Yáñez-Muñoz, Ke Ning, Matthew J. A. Wood, Thomas H. Gillingwater, Kevin Talbot, The UK SMA Research Consortium
    Disease Models & Mechanisms 2017 10: 943-954; doi: 10.1242/dmm.030148

    Summary: Translational research for spinal muscular atrophy (SMA) should address the development of non-CNS and survival motor neuron (SMN)-independent therapeutic approaches to complement and enhance the benefits of CNS-directed and SMN-dependent therapies.

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