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  Open access

May, 2020; 13 (5)

FIRST PERSON

  • Open Access
    First person – Sukalp Muzumdar
    Disease Models & Mechanisms 2020 13: dmm045146 doi: 10.1242/dmm.045146 Published 29 May 2020
  • Open Access
    First person – Kristin Ates
    Disease Models & Mechanisms 2020 13: dmm044818 doi: 10.1242/dmm.044818 Published 26 May 2020
  • Open Access
    First person – Anna Gray
    Disease Models & Mechanisms 2020 13: dmm044875 doi: 10.1242/dmm.044875 Published 26 May 2020

REVIEWS

  • Open Access
    Building bridges, not walls: spinal cord regeneration in zebrafish
    Valentina Cigliola, Clayton J. Becker, Kenneth D. Poss
    Disease Models & Mechanisms 2020 13: dmm044131 doi: 10.1242/dmm.044131 Published 27 May 2020

    Summary: Unlike mammals, teleost fish are capable of efficient, spontaneous recovery after a paralyzing spinal cord injury. Here, we highlight the major events through which laboratory model zebrafish regenerate spinal cord tissue.

  • Open Access
    Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome
    Suhee Chang, Marisa S. Bartolomei
    Disease Models & Mechanisms 2020 13: dmm044123 doi: 10.1242/dmm.044123 Published 26 May 2020

    Summary: Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) can be caused by various (epi)genetic lesions leading to the dysregulation of genomic imprinting. This Review focuses on the mouse models used to understand how such perturbations contribute to the human BWS/SRS phenotypes.

RESEARCH ARTICLES

  • Open Access
    Genetic activation of Nrf2 reduces cutaneous symptoms in a murine model of Netherton syndrome
    Sukalp Muzumdar, Michael Koch, Hayley Hiebert, Andreas Bapst, Alessia Gravina, Wilhelm Bloch, Hans-Dietmar Beer, Sabine Werner, Matthias Schäfer
    Disease Models & Mechanisms 2020 13: dmm042648 doi: 10.1242/dmm.042648 Published 1 June 2020

    Summary: Nrf2 activation ameliorates the epidermal barrier defect and cutaneous inflammation in a mouse model of Netherton syndrome, suggesting the utility of NRF2-activating compounds in patients with this genetic disease.

  • Open Access
    Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure
    Cassandre Labelle-Dumais, Goutham Pyatla, Seyyedhassan Paylakhi, Nicholas G. Tolman, Syed Hameed, Yusef Seymens, Eric Dang, Anil K. Mandal, Sirisha Senthil, Rohit C. Khanna, Meha Kabra, Inderjeet Kaur, Simon W. M. John, Subhabrata Chakrabarti, K. Saidas Nair
    Disease Models & Mechanisms 2020 13: dmm042853 doi: 10.1242/dmm.042853 Published 29 May 2020

    Summary: This study reports a novel role of PRSS56 in the proper developmental positioning of ocular drainage tissues, establishing it as an important genetic factor involved in iridocorneal angle configuration and intraocular pressure homeostasis.

  • Open Access
    Activated pathogenic Th17 lymphocytes induce hypertension following high-fructose intake in Dahl salt-sensitive but not Dahl salt-resistant rats
    Eunjo Lee, Namkyung Kim, Jinjoo Kang, Sangwon Yoon, Hae-Ahm Lee, Hanna Jung, Sang-Hyun Kim, Inkyeom Kim
    Disease Models & Mechanisms 2020 13: dmm044107 doi: 10.1242/dmm.044107 Published 27 May 2020

    Summary: Activation of pathogenic Th17 lymphocytes induces hypertension after high-fructose intake in salt-sensitive rats. Immune activation plays an important role in the development of hypertension, whereas immune tolerance is protective against hypertension.

  • Open Access
    Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development
    Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A. Wolfe, Joshi Stephen, David R. Adams, Thomas Markello, Cynthia J. Tifft, Robert Settlage, William A. Gahl, Graydon B. Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y. Albert Pan
    Disease Models & Mechanisms 2020 13: dmm041913 doi: 10.1242/dmm.041913 Published 26 May 2020

    Editor's choice: The functions of two endocytic adaptor proteins, PHETA1/2, are determined using zebrafish mutants and a potentially disease-causing variant of human PHETA1. Findings suggest essential roles in craniofacial and renal development.

  • Open Access
    Deterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice
    Anna L. Gray, Leonette Annan, James R. T. Dick, Albert R. La Spada, Michael G. Hanna, Linda Greensmith, Bilal Malik
    Disease Models & Mechanisms 2020 13: dmm042424 doi: 10.1242/dmm.042424 Published 26 May 2020

    Summary: Research on the AR100 mouse model of spinal and bulbarmuscular atrophy shows that disease manifests first in skeletal muscle, before motor neuron degeneration, which only occurs in the late stage of disease.

  • Open Access
    Temperature-sensitive spinal muscular atrophy-causing point mutations lead to SMN instability, locomotor defects and premature lethality in Drosophila
    Amanda C. Raimer, Suhana S. Singh, Maina R. Edula, Tamara Paris-Davila, Vasudha Vandadi, Ashlyn M. Spring, A. Gregory Matera
    Disease Models & Mechanisms 2020 13: dmm043307 doi: 10.1242/dmm.043307 Published 22 May 2020

    Summary: Using animal models of spinal muscular atrophy, we describe a novel disease mechanism caused by temperature-sensitive protein unfolding/instability of the Tudor domain of SMN.

  • Open Access
    Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice
    Nozomu Yoshioka, Yudai Kabata, Momona Kuriyama, Norihisa Bizen, Li Zhou, Dang M. Tran, Masato Yano, Atsushi Yoshiki, Tatsuo Ushiki, Thomas J. Sproule, Riichiro Abe, Hirohide Takebayashi
    Disease Models & Mechanisms 2020 13: dmm041608 doi: 10.1242/dmm.041608 Published 21 May 2020

    Summary: This paper describes the mechanism by which diverse dystonin gene mutations result in phenotypic heterogeneity in neural and cutaneous tissues of Dystonia musculorum mice.

  • Open Access
    Genetic predisposition for increased red blood cell distribution width is an early risk factor for cardiovascular and renal comorbidities
    Xi Cheng, Blair Mell, Ahmad Alimadadi, Sarah Galla, Cameron G. McCarthy, Saroj Chakraborty, Venkatesha Basrur, Bina Joe
    Disease Models & Mechanisms 2020 13: dmm044081 doi: 10.1242/dmm.044081 Published 17 May 2020

    Summary: Our study pinpoints a quantitative trait locus for red blood cell distribution width (RDW) and provides a novel genetic rat model mimicking the clinical association of increased RDW with poor cardio-renal outcome.

  • Open Access
    The transcription factor Nurr1 is upregulated in amyotrophic lateral sclerosis patients and SOD1-G93A mice
    Valeria Valsecchi, Marina Boido, Francesca Montarolo, Michela Guglielmotto, Simona Perga, Serena Martire, Santina Cutrupi, Andrea Iannello, Nadia Gionchiglia, Elena Signorino, Andrea Calvo, Giuseppe Fuda, Adriano Chiò, Antonio Bertolotto, Alessandro Vercelli
    Disease Models & Mechanisms 2020 13: dmm043513 doi: 10.1242/dmm.043513 Published 15 May 2020

    Summary: We hypothesize that the transcription factor Nurr1 is activated in the early phase of the neurodegenerative disease amylotrophic lateral sclerosis (ALS), probably as a neuroprotective endogenous mechanism. Nurr1 might represent a promising target for ALS therapy.

CORRECTION

  • Open Access
    Correction: Vascular regression precedes motor neuron loss in the FUS (1-359) ALS mouse model
    Martin Crivello, Marion C. Hogg, Elisabeth Jirström, Luise Halang, Ina Woods, Megan Rayner, Karen S. Coughlan, Sebastian A. Lewandowski, Jochen H. M. Prehn
    Disease Models & Mechanisms 2020 13: dmm045310 doi: 10.1242/dmm.045310 Published 15 May 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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