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ALS

  • REVIEW
    The expanding spectrum of neurological disorders of phosphoinositide metabolism
    Jonathan R. Volpatti, Almundher Al-Maawali, Lindsay Smith, Aqeela Al-Hashim, Julie A. Brill, James J. Dowling
    Disease Models & Mechanisms 2019 12: dmm038174 doi: 10.1242/dmm.038174 Published 13 August 2019

    Summary: This Review highlights the intersection between phosphoinositides and the enzymes that regulate their metabolism, which together are crucial regulators of myriad cellular processes and neurological disorders.

  • RESEARCH ARTICLE
    SOD1 activity threshold and TOR signalling modulate VAP(P58S) aggregation via reactive oxygen species-induced proteasomal degradation in a Drosophila model of amyotrophic lateral sclerosis
    Kriti Chaplot, Lokesh Pimpale, Balaji Ramalingam, Senthilkumar Deivasigamani, Siddhesh S. Kamat, Girish S. Ratnaparkhi
    Disease Models & Mechanisms 2019 12: dmm033803 doi: 10.1242/dmm.033803 Published 7 February 2019

    Summary: ALS8/VAPB(P58S) aggregates appear to be cleared by an increase in cellular reactive oxygen species, which, in turn, triggers proteasomal degradation.

  • REVIEW
    Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis
    Francesca De Giorgio, Cheryl Maduro, Elizabeth M. C. Fisher, Abraham Acevedo-Arozena
    Disease Models & Mechanisms 2019 12: dmm037424 doi: 10.1242/dmm.037424 Published 2 January 2019

    Summary: This Review compares two key types of amyotrophic lateral sclerosis (ALS) mouse models: transgenic mice and those that express genes at physiological levels. We explore the advantages of each type for studying pathomechanisms, to understand what they can teach us about ALS.

  • RESEARCH ARTICLES
    A differential autophagy-dependent response to DNA double-strand breaks in bone marrow mesenchymal stem cells from sporadic ALS patients
    Shane Wald-Altman, Edward Pichinuk, Or Kakhlon, Miguel Weil
    Disease Models & Mechanisms 2017 10: 645-654; doi: 10.1242/dmm.027938

    Summary: A novel endogenous disease mechanism in cells from ALS patients after NCS-induced DNA damage.

  • RESEARCH ARTICLE
    A novel Drosophila model of TDP-43 proteinopathies: N-terminal sequences combined with the Q/N domain induce protein functional loss and locomotion defects
    Simona Langellotti, Valentina Romano, Giulia Romano, Raffaella Klima, Fabian Feiguin, Lucia Cragnaz, Maurizio Romano, Francisco E. Baralle
    Disease Models & Mechanisms 2016 9: 659-669; doi: 10.1242/dmm.023382

    Summary: An engineered TDP-43 construct can be used to induce TDP-43 aggregation in Drosophila, providing a model that could be useful for characterization of pathogenetic mechanisms and drug screening.

  • RESEARCH ARTICLE
    A natural human IgM that binds to gangliosides is therapeutic in murine models of amyotrophic lateral sclerosis
    Xiaohua Xu, Aleksandar Denic, Luke R. Jordan, Nathan J. Wittenberg, Arthur E. Warrington, Bharath Wootla, Louisa M. Papke, Laurie J. Zoecklein, Daehan Yoo, Jonah Shaver, Sang-Hyun Oh, Larry R. Pease, Moses Rodriguez
    Disease Models & Mechanisms 2015 8: 831-842; doi: 10.1242/dmm.020727

    Summary: A single peripheral dose of a recombinant natural human IgM increases lifespan and delays neurological deficits in mouse models of human ALS.

  • RESOURCE ARTICLE
    ALS mutant FUS proteins are recruited into stress granules in induced pluripotent stem cell-derived motoneurons
    Jessica Lenzi, Riccardo De Santis, Valeria de Turris, Mariangela Morlando, Pietro Laneve, Andrea Calvo, Virginia Caliendo, Adriano Chiò, Alessandro Rosa, Irene Bozzoni
    Disease Models & Mechanisms 2015 8: 755-766; doi: 10.1242/dmm.020099

    Summary: Mutated FUS protein is aberrantly delocalized and recruited into stress granules in iPSC-derived motoneurons, which provide a new model system for amyotrophic lateral sclerosis.

  • RESEARCH ARTICLE
    Spinal cord pathology is ameliorated by P2X7 antagonism in a SOD1-mutant mouse model of amyotrophic lateral sclerosis
    Savina Apolloni, Susanna Amadio, Chiara Parisi, Alessandra Matteucci, Rosa L. Potenza, Monica Armida, Patrizia Popoli, Nadia D’Ambrosi, Cinzia Volonté
    Disease Models & Mechanisms 2014 7: 1101-1109; doi: 10.1242/dmm.017038
  • REVIEW
    Fishing for causes and cures of motor neuron disorders
    Shunmoogum A. Patten, Gary A. B. Armstrong, Alexandra Lissouba, Edor Kabashi, J. Alex Parker, Pierre Drapeau
    Disease Models & Mechanisms 2014 7: 799-809; doi: 10.1242/dmm.015719
  • RESEARCH ARTICLE
    TorsinA rescues ER-associated stress and locomotive defects in C. elegans models of ALS
    Michelle L. Thompson, Pan Chen, Xiaohui Yan, Hanna Kim, Akeem R. Borom, Nathan B. Roberts, Kim A. Caldwell, Guy A. Caldwell
    Disease Models & Mechanisms 2014 7: 233-243; doi: 10.1242/dmm.013615

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