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Spinal muscular atrophy

  • RESEARCH ARTICLE
    Modulating the endoplasmic reticulum stress response attenuates neurodegeneration in a Caenorhabditis elegans model of spinal muscular atrophy
    James J. Doyle, Celine Vrancx, Claudia Maios, Audrey Labarre, Shunmoogum A. Patten, J. Alex Parker
    Disease Models & Mechanisms 2020 13: dmm041350 doi: 10.1242/dmm.041350 Published 22 December 2020

    Summary: A new non-larval-lethal C. elegans model of spinal muscular atrophy shows mild phenotypes, such as muscle cell and neuronal degeneration, and is therefore useful for testing potential drug treatments.

  • RESEARCH ARTICLE
    Temperature-sensitive spinal muscular atrophy-causing point mutations lead to SMN instability, locomotor defects and premature lethality in Drosophila
    Amanda C. Raimer, Suhana S. Singh, Maina R. Edula, Tamara Paris-Davila, Vasudha Vandadi, Ashlyn M. Spring, A. Gregory Matera
    Disease Models & Mechanisms 2020 13: dmm043307 doi: 10.1242/dmm.043307 Published 22 May 2020

    Summary: Using animal models of spinal muscular atrophy, we describe a novel disease mechanism caused by temperature-sensitive protein unfolding/instability of the Tudor domain of SMN.

  • 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.

  • RESEARCH ARTICLE
    Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy
    Chong-Chong Xu, Kyle R. Denton, Zhi-Bo Wang, Xiaoqing Zhang, Xue-Jun Li
    Disease Models & Mechanisms 2016 9: 39-49; doi: 10.1242/dmm.021766

    Summary: This study provides the first evidence in human models of spinal muscular atrophy of impaired mitochondrial dynamics, which serve as potential therapeutic targets for this devastating disease.

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