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Subject collection: Neurodegenerative Disorders

  • RESEARCH ARTICLE
    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.

  • RESEARCH ARTICLE
    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.

  • RESEARCH ARTICLE
    A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease
    Wendy Westbroek, Matthew Nguyen, Marina Siebert, Taylor Lindstrom, Robert A. Burnett, Elma Aflaki, Olive Jung, Rafael Tamargo, Jorge L. Rodriguez-Gil, Walter Acosta, An Hendrix, Bahafta Behre, Nahid Tayebi, Hideji Fujiwara, Rohini Sidhu, Benoit Renvoise, Edward I. Ginns, Amalia Dutra, Evgenia Pak, Carole Cramer, Daniel S. Ory, William J. Pavan, Ellen Sidransky
    Disease Models & Mechanisms 2016 9: 769-778; doi: 10.1242/dmm.024588

    Summary: This work describes the generation of a novel immortalized glucocerebrosidase-deficient neuronal cell model with utility for pathophysiology research and therapeutic development in Gaucher disease.

  • RESEARCH ARTICLE
    Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich’s ataxia
    Belén Mollá, Fátima Riveiro, Arantxa Bolinches-Amorós, Diana C. Muñoz-Lasso, Francesc Palau, Pilar González-Cabo
    Disease Models & Mechanisms 2016 9: 647-657; doi: 10.1242/dmm.024273

    Summary: Frataxin deficiency induces different pathogenic mechanisms in the nervous system and pancreas in a YG8R mouse model of Friedreich's ataxia (FRDA). Thus, the degenerative process in FRDA is determined by the cell type.

  • 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
    Spontaneous shaker rat mutant – a new model for X-linked tremor/ataxia
    Karla P. Figueroa, Sharan Paul, Tito Calì, Raffaele Lopreiato, Sukanya Karan, Martina Frizzarin, Darren Ames, Ginevra Zanni, Marisa Brini, Warunee Dansithong, Brett Milash, Daniel R. Scoles, Ernesto Carafoli, Stefan M. Pulst
    Disease Models & Mechanisms 2016 9: 553-562; doi: 10.1242/dmm.022848

    Summary: The shaker rat mutant: a new model for essential tremors and ataxia characterized by Purkinje cell degeneration.

  • RESEARCH ARTICLE
    Neurodegeneration in a Drosophila model of adrenoleukodystrophy: the roles of the Bubblegum and Double bubble acyl-CoA synthetases
    Anna Sivachenko, Hannah B. Gordon, Suzanne S. Kimball, Erin J. Gavin, Joshua L. Bonkowsky, Anthea Letsou
    Disease Models & Mechanisms 2016 9: 377-387; doi: 10.1242/dmm.022244

    Drosophila Collection: A new Drosophila model of ALD reveals dysregulation of fatty acid metabolism as causal of neurodegenerative pathologies and has led to the identification of a new candidate gene for ALD in humans.

  • RESOURCE ARTICLE
    Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells
    Naoto Ito, William T. Hendriks, Jyotsna Dhakal, Christine A. Vaine, Christina Liu, David Shin, Kyle Shin, Noriko Wakabayashi-Ito, Marisela Dy, Trisha Multhaupt-Buell, Nutan Sharma, Xandra O. Breakefield, D. Cristopher Bragg
    Disease Models & Mechanisms 2016 9: 451-462; doi: 10.1242/dmm.022590

    Summary: This study describes a new iPSC model of X-linked dystonia-parkinsonism (XDP), which was initially validated by demonstrating a similar transcriptional defect as has been previously reported in XDP brain tissue.

  • RESEARCH ARTICLE
    Glial expression of Swiss cheese (SWS), the Drosophila orthologue of neuropathy target esterase (NTE), is required for neuronal ensheathment and function
    Sudeshna Dutta, Franziska Rieche, Nina Eckl, Carsten Duch, Doris Kretzschmar
    Disease Models & Mechanisms 2016 9: 283-294; doi: 10.1242/dmm.022236

    Drosophila Collection: Loss of sws in glia results in locomotion deficits, suggesting that glial changes contribute to the paralysis and spastic paraplegia in humans carrying mutations in its orthologue, NTE.

  • RESEARCH ARTICLE
    The calcineurin inhibitor Sarah (Nebula) exacerbates Aβ42 phenotypes in a Drosophila model of Alzheimer's disease
    Soojin Lee, Se Min Bang, Yoon Ki Hong, Jang Ho Lee, Haemin Jeong, Seung Hwan Park, Quan Feng Liu, Im-Soon Lee, Kyoung Sang Cho
    Disease Models & Mechanisms 2016 9: 295-306; doi: 10.1242/dmm.018069

    Drosophila Collection: Chronically increased levels of Sarah (Nebula), a calcineurin inhibitor, cause mitochondria dysfunction and subsequently increased Aβ42-induced cytotoxicity in Drosophila.

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