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  Open access

October, 2020; 13 (10)

AT A GLANCE

  • Open Access
    Modeling neurodegeneration in Caenorhabditis elegans
    Kim A. Caldwell, Corey W. Willicott, Guy A. Caldwell
    Disease Models & Mechanisms 2020 13: dmm046110 doi: 10.1242/dmm.046110 Published 26 October 2020

    Summary: While unsurpassed as an experimental system for fundamental biology, Caenorhabditis elegans remains undervalued for its translational potential. Here, we highlight significant outcomes from, and resources available for, C. elegans-based research into neurodegenerative disorders.

REVIEW

  • Open Access
    Cellular and animal models for facioscapulohumeral muscular dystrophy
    Alec M. DeSimone, Justin Cohen, Monkol Lek, Angela Lek
    Disease Models & Mechanisms 2020 13: dmm046904 doi: 10.1242/dmm.046904 Published 28 October 2020

    Summary: Owing to its complex etiology and the toxicity of DUX4, modeling facioscapulohumeral muscular dystrophy (FSHD) is uniquely challenging. Here, we review the approaches that overcame these difficulties to develop highly relevant FSHD models.

RESEARCH ARTICLES

  • Open Access
    Ammonia inhibits energy metabolism in astrocytes in a rapid and glutamate dehydrogenase 2-dependent manner
    Leonie Drews, Marcel Zimmermann, Philipp Westhoff, Dominik Brilhaus, Rebecca E. Poss, Laura Bergmann, Constanze Wiek, Peter Brenneisen, Roland P. Piekorz, Tabea Mettler-Altmann, Andreas P. M. Weber, Andreas S. Reichert
    Disease Models & Mechanisms 2020 13: dmm047134 doi: 10.1242/dmm.047134 Published 4 November 2020

    Summary: Here, we identified a mechanism relevant for hepatic encephalopathy by which glutamate dehydrogenase 2 impairs energy metabolism in mitochondria very rapidly via inhibiting the TCA cycle in astrocytes.

  • Open Access
    Cells expressing PAX8 are the main source of homeostatic regeneration of adult mouse endometrial epithelium and give rise to serous endometrial carcinoma
    Dah-Jiun Fu, Andrea J. De Micheli, Mallikarjun Bidarimath, Lora H. Ellenson, Benjamin D. Cosgrove, Andrea Flesken-Nikitin, Alexander Yu. Nikitin
    Disease Models & Mechanisms 2020 13: dmm047035 doi: 10.1242/dmm.047035 Published 30 October 2020

    Summary: The study describes a single-cell transcriptomic atlas of the mouse uterus and shows that PAX8+ cells are responsible for long-term maintenance of endometrial epithelium and might represent the cell of origin of serous endometrial carcinoma.

  • Open Access
    Progenitor death drives retinal dysplasia and neuronal degeneration in a mouse model of ATRIP-Seckel syndrome
    Gabriel E. Matos-Rodrigues, Pedro B. Tan, Maurício Rocha-Martins, Clara F. Charlier, Anielle L. Gomes, Felipe Cabral-Miranda, Paulius Grigaravicius, Thomas G. Hofmann, Pierre-Olivier Frappart, Rodrigo A. P. Martins
    Disease Models & Mechanisms 2020 13: dmm045807 doi: 10.1242/dmm.045807 Published 30 October 2020

    Summary: Retinopathies have been reported in primordial dwarfism syndromes. We show that the loss of Atrip, a gene mutated in Seckel syndrome, causes photoreceptor degeneration owing to p53-dependent apoptosis of retinal progenitors during development.

  • Open Access
    A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice
    Zakia Abdelhamed, Marshall Lukacs, Sandra Cindric, Saima Ali, Heymut Omran, Rolf W. Stottmann
    Disease Models & Mechanisms 2020 13: dmm045344 doi: 10.1242/dmm.045344 Published 30 October 2020

    Summary: The Spag17pcdo mouse model closely recapitulates the human central pair primary ciliary dyskinesia condition, and the data here reinforce the power of the hypomorphic allele in representing human conditions.

  • Open Access
    Chronic administration of P2X7 receptor antagonist JNJ-47965567 delays disease onset and progression, and improves motor performance in ALS SOD1G93A female mice
    Cristina Ruiz-Ruiz, Nuria García-Magro, Pilar Negredo, Carlos Avendaño, Anindya Bhattacharya, Marc Ceusters, Antonio G. García
    Disease Models & Mechanisms 2020 13: dmm045732 doi: 10.1242/dmm.045732 Published 30 October 2020

    Summary: This study implicates the P2X7 receptor (P2X7R) in amyotrophic lateral sclerosis progression in mice and shows that the effectiveness of treatment with P2X7R antagonists is sex dependent.

  • Open Access
    An HIV-Tat inducible mouse model system of childhood HIV-associated nephropathy
    Pingtao Tang, Jharna R. Das, Jinliang Li, Jing Yu, Patricio E. Ray
    Disease Models & Mechanisms 2020 13: dmm045641 doi: 10.1242/dmm.045641 Published 28 October 2020

    Summary: The development of a new inducible mouse model system of childhood HIV-associated nephropathy demonstrated that HIV-Tat plays a critical role in this disease, acting in synergy with other HIV-1 genes and heparin-binding cytokines.

  • Open Access
    Machine learning discriminates a movement disorder in a zebrafish model of Parkinson's disease
    Gideon L. Hughes, Michael A. Lones, Matthew Bedder, Peter D. Currie, Stephen L. Smith, Mary Elizabeth Pownall
    Disease Models & Mechanisms 2020 13: dmm045815 doi: 10.1242/dmm.045815 Published 16 October 2020

    Summary: Using computational analyses to harness artificial intelligence, we have tested a genetic model of Parkinson's disease and reveal a distinct movement phenotype in adult zebrafish lacking Dj-1.

  • Open Access
    CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons
    S. Schuster, E. Heuten, A. Velic, J. Admard, M. Synofzik, S. Ossowski, B. Macek, S. Hauser, L. Schöls
    Disease Models & Mechanisms 2020 13: dmm045096 doi: 10.1242/dmm.045096 Published 12 October 2020

    Summary: Cell viability, expression and immunocytochemical analyses reveal that mutations in STUB1 that cause SCAR16 impair the heat-shock response in patient-derived fibroblasts, but not in iPSC-derived cortical neurons.

  • Open Access
    The SDHB Arg230His mutation causing familial paraganglioma alters glycolysis in a new Caenorhabditis elegans model
    Éva Saskői, Zoltán Hujber, Gábor Nyírő, István Likó, Barbara Mátyási, Gábor Petővári, Katalin Mészáros, Attila L. Kovács, László Patthy, Shreyas Supekar, Hao Fan, Gergely Sváb, László Tretter, Arunabh Sarkar, Aamir Nazir, Anna Sebestyén, Attila Patócs, Anil Mehta, Krisztina Takács-Vellai
    Disease Models & Mechanisms 2020 13: dmm044925 doi: 10.1242/dmm.044925 Published 15 October 2020

    Editor’s choice: Heritable pheochromocytoma/paraganglioma follows the Arg230His missense mutation in SDHB in mitochondrial complex II. By mutating this highly conserved ortholog in C. elegans, we generated a tractable phenotype.

FIRST PERSON

  • Open Access
    First person – Zakia Abdelhamed
    Disease Models & Mechanisms 2020 13: dmm047852 doi: 10.1242/dmm.047852 Published 30 October 2020
  • Open Access
    First person – Gabriel Matos-Rodrigues
    Disease Models & Mechanisms 2020 13: dmm047423 doi: 10.1242/dmm.047423 Published 30 October 2020
  • Open Access
    First person – Gideon Hughes
    Disease Models & Mechanisms 2020 13: dmm047415 doi: 10.1242/dmm.047415 Published 16 October 2020
  • Open Access
    First person – Éva Saskői
    Disease Models & Mechanisms 2020 13: dmm047407 doi: 10.1242/dmm.047407 Published 15 October 2020
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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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Interview – Kim Landry-Truchon and Nicolas Houde

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