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  Open access

March, 2020; 13 (3)

FIRST PERSON

  • Open Access
    First person – Meagan S. Siehr
    Disease Models & Mechanisms 2020 13: dmm044552 doi: 10.1242/dmm.044552 Published 30 March 2020
  • Open Access
    First person – Jorge Rodriguez-Gil
    Disease Models & Mechanisms 2020 13: dmm044222 doi: 10.1242/dmm.044222 Published 13 March 2020
  • Open Access
    First person – Carina Lund
    Disease Models & Mechanisms 2020 13: dmm044362 doi: 10.1242/dmm.044362 Published 13 March 2020

REVIEWS

  • Open Access
    Zebrafish models of sarcopenia
    Alon Daya, Rajashekar Donaka, David Karasik
    Disease Models & Mechanisms 2020 13: dmm042689 doi: 10.1242/dmm.042689 Published 30 March 2020

    Summary: Zebrafish and other small fish have become powerful disease models. Here, we summarize the evidence for the utility of small teleost models for genetic research in sarcopenia – the age-related loss of muscle mass and function.

  • Open Access
    Control of translation elongation in health and disease
    John R. P. Knight, Gavin Garland, Tuija Pöyry, Emma Mead, Nikola Vlahov, Aristeidis Sfakianos, Stefano Grosso, Fabio De-Lima-Hedayioglu, Giovanna R. Mallucci, Tobias von der Haar, C. Mark Smales, Owen J. Sansom, Anne E. Willis
    Disease Models & Mechanisms 2020 13: dmm043208 doi: 10.1242/dmm.043208 Published 26 March 2020

    Summary: In this Review, we outline the process of elongation and discuss the relative contributions of transfer RNAs, elongation factors and their modifiers to this process, and how their dysregulation contributes towards disease.

RESEARCH ARTICLES

  • Open Access
    FX11 limits Mycobacterium tuberculosis growth and potentiates bactericidal activity of isoniazid through host-directed activity
    Gopinath Krishnamoorthy, Peggy Kaiser, Ulrike Abu Abed, January Weiner III, Pedro Moura-Alves, Volker Brinkmann, Stefan H. E. Kaufmann
    Disease Models & Mechanisms 2020 13: dmm041954 doi: 10.1242/dmm.041954 Published 30 March 2020

    Summary: Targeting LDHA results in tumor regression in experimental models. Likewise, co-administration of a known small molecule LDHA inhibitor and an anti-tuberculosis drug has improved the tuberculosis therapeutic outcomes in murine models.

  • Open Access
    Arx expansion mutation perturbs cortical development by augmenting apoptosis without activating innate immunity in a mouse model of X-linked infantile spasms syndrome
    Meagan S. Siehr, Cory A. Massey, Jeffrey L. Noebels
    Disease Models & Mechanisms 2020 13: dmm042515 doi: 10.1242/dmm.042515 Published 30 March 2020

    Editor's choice: We found non-cell-autonomous apoptosis and fewer Arx+ interneurons in neonatal neocortex of an X-linked infantile spasms syndrome Arx expansion model. Early estradiol therapy rescued Arx+ interneuron density, but did not prevent apoptosis.

  • Open Access
    A murine model demonstrates capsule-independent adaptive immune protection in survivors of Klebsiella pneumoniae respiratory tract infection
    Joy Twentyman, Catherine Morffy Smith, Julia S. Nims, Aubree A. Dahler, David A. Rosen
    Disease Models & Mechanisms 2020 13: dmm043240 doi: 10.1242/dmm.043240 Published 26 March 2020

    Summary: This novel mouse model of nonlethal pulmonary Klebsiella pneumoniae infection allows for the exploration of mechanisms required to mount a protective memory response to K. pneumoniae in the lung.

  • Open Access
    Inactivation of Zeb1 in GRHL2-deficient mouse embryos rescues mid-gestation viability and secondary palate closure
    Marina R. Carpinelli, Michael E. de Vries, Alana Auden, Tariq Butt, Zihao Deng, Darren D. Partridge, Lee B. Miles, Smitha R. Georgy, Jody J. Haigh, Charbel Darido, Simone Brabletz, Thomas Brabletz, Marc P. Stemmler, Sebastian Dworkin, Stephen M. Jane
    Disease Models & Mechanisms 2020 13: dmm042218 doi: 10.1242/dmm.042218 Published 25 March 2020

    Summary: Epithelial transcription factor GRHL2 is required for face closure while mesenchymal transcription factor ZEB1 is required for palate closure. Surprisingly, animals lacking both factors close their face and secondary palate.

  • Open Access
    Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1
    Jorge L. Rodriguez-Gil, Dawn E. Watkins-Chow, Laura L. Baxter, Gene Elliot, Ursula L. Harper, Stephen M. Wincovitch, Julia C. Wedel, Arturo A. Incao, Mylene Huebecker, Frederick J. Boehm, William S. Garver, Forbes D. Porter, Karl W. Broman, Frances M. Platt, William J. Pavan
    Disease Models & Mechanisms 2020 13: dmm042614 doi: 10.1242/dmm.042614 Published 13 March 2020

    Summary: This study identifies genomic regions in a new Npc1 mutant mouse model containing potential modifier variants associated with changes in phenotypic severity and lifespan.

  • Open Access
    Characterization of the human GnRH neuron developmental transcriptome using a GNRH1-TdTomato reporter line in human pluripotent stem cells
    Carina Lund, Venkatram Yellapragada, Sanna Vuoristo, Diego Balboa, Sara Trova, Cecile Allet, Nazli Eskici, Kristiina Pulli, Paolo Giacobini, Timo Tuuri, Taneli Raivio
    Disease Models & Mechanisms 2020 13: dmm040105 doi: 10.1242/dmm.040105 Published 13 March 2020

    Summary: Here, we generated a GNRH1-reporter cell line in hPSCs and investigated transcriptomes of GNRH1-expressing neurons and their progenitors, potentially leading to validation of new genes related to GnRH neuron function.

  • Open Access
    Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development
    Ankita M. Shah, Patrick Krohn, Aparna B. Baxi, Andre L. P. Tavares, Charles H. Sullivan, Yeshwant R. Chillakuru, Himani D. Majumdar, Karen M. Neilson, Sally A. Moody
    Disease Models & Mechanisms 2020 13: dmm043489 doi: 10.1242/dmm.043489 Published 3 March 2020

    Summary: Branchio-otic/branchio-oto-renal syndromes result in craniofacial defects including deafness. Four of the known human SIX1 mutations cause differential changes in craniofacial gene expression and otic morphology when expressed in Xenopus embryos.

PREPRINT HIGHLIGHTS

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    The latest from the preLights community – March 2020
    Disease Models & Mechanisms 2020 13: p0301
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  • Open Access

    Altered cytoskeletal arrangement in induced pluripotent stem cells (iPSCs) and motor neurons from patients with riboflavin transporter deficiency

    Alessia Niceforo, Chiara Marioli, Fiorella Colasuonno, Stefania Petrini, Keith Massey, Marco Tartaglia, Enrico Bertini, Sandra Moreno, Claudia Compagnucci
    PDF
  • Open Access

    Genetic background modifies vulnerability to glaucoma related phenotypes in Lmx1b mutant mice

    N. G. Tolman, R. Balasubramanian, D. G. Macalinao, A. L. Kearney, K. H. MacNicoll, C. L. Montgomery, W. N. de Vries, I. J. Jackson, S. H. Cross, K. Kizhatil, K. S. Nair, S. W. M. John
    PDF
  • 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
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