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  Open access

August, 2016; 9 (8)

SPECIAL ARTICLE

  • Open Access
    Model systems of protein-misfolding diseases reveal chaperone modifiers of proteotoxicity
    Marc Brehme, Cindy Voisine
    Disease Models & Mechanisms 2016 9: 823-838; doi: 10.1242/dmm.024703

    Summary: Brehme and Voisine perform a comprehensive literature survey that highlights the power of model systems to unveil key chaperone modifiers of proteotoxicity with potential therapeutic implications.

RESEARCH ARTICLES

  • Open Access
    A chemical with proven clinical safety rescues Down-syndrome-related phenotypes in through DYRK1A inhibition
    Hyeongki Kim, Kyu-Sun Lee, Ae-Kyeong Kim, Miri Choi, Kwangman Choi, Mingu Kang, Seung-Wook Chi, Min-Sung Lee, Jeong-Soo Lee, So-Young Lee, Woo-Joo Song, Kweon Yu, Sungchan Cho
    Disease Models & Mechanisms 2016 9: 839-848; doi: 10.1242/dmm.025668

    Editors' choice: In vivo validation of a potent DYRK1A inhibitor, with proven clinical safety, using Down-syndrome- and Alzheimer's-disease-like models.

  • Open Access
    Conditional deletion of AP-2β in mouse cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma
    Vanessa B. Martino, Thomas Sabljic, Paula Deschamps, Rebecca M. Green, Monica Akula, Erica Peacock, Alexander Ball, Trevor Williams, Judith A. West-Mays
    Disease Models & Mechanisms 2016 9: 849-861; doi: 10.1242/dmm.025262

    Summary: Tissue-specific deletion of transcription factor AP-2β in the neural-crest-derived periocular mesenchyme generates a novel model of anterior segment dysgenesis and early onset glaucoma in mice.

  • Open Access
    YBR/EiJ mice: a new model of glaucoma caused by genes on chromosomes 4 and 17
    K. Saidas Nair, Mihai Cosma, Narayanan Raghupathy, Michael A. Sellarole, Nicholas G. Tolman, Wilhelmine de Vries, Richard S. Smith, Simon W. M. John
    Disease Models & Mechanisms 2016 9: 863-871; doi: 10.1242/dmm.024307

    Summary: We identify the YBR/EiJ mouse strain as a new model of high intraocular pressure and glaucoma, and also identify genetic loci that contribute to this glaucoma.

  • Open Access
    Loss of vhl in the zebrafish pronephros recapitulates early stages of human clear cell renal cell carcinoma
    Haley R. Noonan, Ana M. Metelo, Caramai N. Kamei, Randall T. Peterson, Iain A. Drummond, Othon Iliopoulos
    Disease Models & Mechanisms 2016 9: 873-884; doi: 10.1242/dmm.024380

    Summary: Zebrafish with an inactivating mutation in the vhl gene can be used as a model of early stage clear cell renal cell carcinoma, with applications for genetic studies and drug screens.

  • Open Access
    Alterations in nuclear structure promote lupus autoimmunity in a mouse model
    Namrata Singh, Duncan B. Johnstone, Kayla A. Martin, Italo Tempera, Mariana J. Kaplan, Michael F. Denny
    Disease Models & Mechanisms 2016 9: 885-897; doi: 10.1242/dmm.024851

    Summary: Combining a disruption in nuclear structure with a lupus-prone genetic background induces autoimmunity, suggesting that nuclear alterations trigger the disease in genetically susceptible individuals.

  • Open Access
    MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia
    Mylène Hervé, El Chérif Ibrahim
    Disease Models & Mechanisms 2016 9: 899-909; doi: 10.1242/dmm.025841

    Summary: A miRNA screening conducted in olfactory stem cells from patients links the neuron-specific splicing factor NOVA1 to neurodegeneration in familial dysautonomia.

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Disease Models & Mechanisms: 9 (8)
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  • Open Access

    Neural crest-specific deletion of Bmp7 leads to midfacial hypoplasia, nasal airway obstruction, and disordered breathing modelling Obstructive Sleep Apnea

    Pranidhi Baddam, Vivian Biancardi, Daniela M. Roth, Farah Eaton, Claudine Thereza-Bussolaro, Rupasri Mandal, David S. Wishart, Amy Barr, Joanna MacLean, Carlos Flores-Mir, Silvia Pagliardini, Daniel Graf
    PDF
  • Open Access

    Inducible expression of human C9ORF72 36x G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice

    F. W. Riemslagh, E. C. van der Toorn, R. F. M. Verhagen, A. Maas, L. W. J. Bosman, R. K. Hukema, R. Willemsen
    PDF
  • Open Access

    A muscle growth promoting treatment based on the attenuation of activin/myostatin signalling in young mice results in long-term testicular abnormalities

    Danielle Vaughan, Robert Mitchell, Oliver Kretz, David Chambers, Maciej Lalowski, Helge Amthor, Olli Ritvos, Arja Pasternack, Antonios Matsakas, Sakthivel Vaiyapuri, Tobias B. Huber, Bernd Denecke, Abir Mukherjee, Darius Widera, Ketan Patel
    PDF
  • Open Access

    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
    PDF
  • Open Access

    Interpreting the pathogenicity of Joubert Syndrome missense variants in Caenorhabditis elegans

    Karen I. Lange, Sofia Tsiropoulou, Katarzyna Kucharska, Oliver E. Blacque
    PDF
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Professor Elizabeth Patton appointed as DMM’s next Editor-in-Chief

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Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart

Research from Silke Sperling and colleagues uses Drosophila to identify MYOM2 as a candidate gene in congenital heart malformations in this issue’s Editor’s choice.


C. elegans as a disease model

A new Research article from Doyle et al., models spinal muscular atrophy in C. elegans to show that that targeting therapies to muscle cells is more effective than neuronal delivery. Find more research using C. elegans as a disease model in our latest subject collection.


Call for papers – The RAS Pathway: Diseases, Therapeutics and Beyond

Our upcoming special issue is now welcoming submissions until 1 April 2021. Guest-edited by Donita Brady (Perelman School of Medicine at the University of Pennsylvania, USA) and Arvin Dar (Icahn School of Medicine at Mount Sinai, USA), the issue will focus on the targeting the RAS pathway. Find out more about the issue and how to submit your manuscript.


Interview – Kim Landry-Truchon and Nicolas Houde

In an interview, first authors Kim Landry-Truchon and Nicolas Houde discuss their mouse model of the early stages of pleuropulmonary blastoma, reflecting on the implications of their work and the future of their field.

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