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Disease model

  • RESEARCH ARTICLE
    TDP-43 mislocalization drives neurofilament changes in a novel model of TDP-43 proteinopathy
    Rachel Atkinson, Jacqueline Leung, James Bender, Matthew Kirkcaldie, James Vickers, Anna King
    Disease Models & Mechanisms 2021 14: dmm047548 doi: 10.1242/dmm.047548 Published 11 February 2021

    Summary: We examined the cellular effects of mislocalization of TDP-43, a key pathological protein in amyotrophic lateral sclerosis and frontotemporal dementia, using the eye as a model and demonstrated axonal cytoskeleton alterations.

  • REVIEW
    Cored in the act: the use of models to understand core myopathies
    Aurora Fusto, Louise A. Moyle, Penney M. Gilbert, Elena Pegoraro
    Disease Models & Mechanisms 2019 12: dmm041368 doi: 10.1242/dmm.041368 Published 19 December 2019

    Summary: The core myopathies are neuromuscular disorders with no cure. In this Review, we outline our current understanding of pathomechanisms, the advantages and limitations of available models, and discuss emerging modeling technologies.

  • RESEARCH ARTICLE
    Drug screens of NGLY1 deficiency in worm and fly models reveal catecholamine, NRF2 and anti-inflammatory-pathway activation as potential clinical approaches
    Sangeetha Iyer, Joshua D. Mast, Hillary Tsang, Tamy P. Rodriguez, Nina DiPrimio, Madeleine Prangley, Feba S. Sam, Zachary Parton, Ethan O. Perlstein
    Disease Models & Mechanisms 2019 12: dmm040576 doi: 10.1242/dmm.040576 Published 4 November 2019

    Summary: Using worm and fly models of an ultra-rare congenital disorder of glycosylation, we performed repurposing screens and identified the FDA-approved drug aripiprazole as a clinical candidate.

  • EDITORIAL
    From gene to treatment: supporting rare disease translational research through model systems
    Julija Hmeljak, Monica J. Justice (Editor-in-Chief)
    Disease Models & Mechanisms 2019 12: dmm039271 doi: 10.1242/dmm.039271 Published 22 February 2019

    Summary: This Editorial discusses the importance of model systems with accurate face, construct, target and predictive validity for rare disease research.

  • RESEARCH ARTICLE
    Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model
    Sarah Foriel, Julien Beyrath, Ilse Eidhof, Richard J. Rodenburg, Annette Schenck, Jan A. M. Smeitink
    Disease Models & Mechanisms 2018 11: dmm032482 doi: 10.1242/dmm.032482 Published 27 March 2018

    Summary: The characterization of a novel Drosophila model of NDUFS4 mitochondrial disease revealed a pronounced defect in feeding abilities and recapitulated additional human disease features.

  • REVIEW
    Human pluripotent stem cell models of cardiac disease: from mechanisms to therapies
    Karina O. Brandão, Viola A. Tabel, Douwe E. Atsma, Christine L. Mummery, Richard P. Davis
    Disease Models & Mechanisms 2017 10: 1039-1059; doi: 10.1242/dmm.030320

    Summary: This Review discusses how human pluripotent stem cells have revolutionised the study of cardiac disease, highlighting their impact in investigating pathogenesis and their use in drug discovery, as well as current challenges facing the field.

  • SPECIAL ARTICLE
    FlyBase portals to human disease research using Drosophila models
    Gillian H. Millburn, Madeline A. Crosby, L. Sian Gramates, Susan Tweedie, the FlyBase Consortium
    Disease Models & Mechanisms 2016 9: 245-252; doi: 10.1242/dmm.023317

    Drosophila Collection: Drosophila melanogaster is well established as a model for studying human disease. Here, we highlight recent efforts to enhance the availability and accessibility of disease model data in FlyBase, the model organism database for Drosophila.

  • REVIEW
    Repairing quite swimmingly: advances in regenerative medicine using zebrafish
    Wolfram Goessling, Trista E. North
    Disease Models & Mechanisms 2014 7: 769-776; doi: 10.1242/dmm.016352

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