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Mitochondrial disease

  • 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.

  • RESEARCH ARTICLE
    Broad AOX expression in a genetically tractable mouse model does not disturb normal physiology
    Marten Szibor, Praveen K. Dhandapani, Eric Dufour, Kira M. Holmström, Yuan Zhuang, Isabelle Salwig, Ilka Wittig, Juliana Heidler, Zemfira Gizatullina, Timur Gainutdinov, German Mouse Clinic Consortium, Helmut Fuchs, Valérie Gailus-Durner, Martin Hrabě de Angelis, Jatin Nandania, Vidya Velagapudi, Astrid Wietelmann, Pierre Rustin, Frank N. Gellerich, Howard T. Jacobs, Thomas Braun
    Disease Models & Mechanisms 2017 10: 163-171; doi: 10.1242/dmm.027839

    Summary: Previous limitations are overcome in this first genetically tractable mouse model expressing invertebrate alternative oxidase, AOX, which can suppress pathological stresses in the mitochondrial respiratory chain.

  • REVIEW
    Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies
    Jean-Paul Lasserre, Alain Dautant, Raeka S. Aiyar, Roza Kucharczyk, Annie Glatigny, Déborah Tribouillard-Tanvier, Joanna Rytka, Marc Blondel, Natalia Skoczen, Pascal Reynier, Laras Pitayu, Agnès Rötig, Agnès Delahodde, Lars M. Steinmetz, Geneviève Dujardin, Vincent Procaccio, Jean-Paul di Rago
    Disease Models & Mechanisms 2015 8: 509-526; doi: 10.1242/dmm.020438

    Summary: In this Review, we discuss the use of budding yeast to understand mitochondrial diseases and help in the search for their treatments.

  • RESEARCH ARTICLE
    A Drosophila model of mitochondrial disease caused by a complex I mutation that uncouples proton pumping from electron transfer
    Jonathon L. Burman, Leslie S. Itsara, Ernst-Bernhard Kayser, Wichit Suthammarak, Adrienne M. Wang, Matt Kaeberlein, Margaret M. Sedensky, Philip G. Morgan, Leo J. Pallanck
    Disease Models & Mechanisms 2014 7: 1165-1174; doi: 10.1242/dmm.015321
  • RESEARCH ARTICLE
    Phenotypic rescue of a Drosophila model of mitochondrial ANT1 disease
    Suvi Vartiainen, Shanjun Chen, Jack George, Tea Tuomela, Kaisa R. Luoto, Kevin M. C. O’Dell, Howard T. Jacobs
    Disease Models & Mechanisms 2014 7: 635-648; doi: 10.1242/dmm.016527

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