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  Open access

December, 2017; 10 (12)

SPECIAL ARTICLE

  • Open Access
    Sophisticated lessons from simple organisms: appreciating the value of curiosity-driven research
    Robert J. Duronio, Patrick H. O'Farrell, Greenfield Sluder, Tin Tin Su
    Disease Models & Mechanisms 2017 10: 1381-1389; doi: 10.1242/dmm.031203

    Summary: Curiosity-driven research using simple organisms has and will continue to lead to fundamental discoveries about biology that are directly applicable to improving the human condition.

RESEARCH ARTICLES

  • Open Access
    Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies
    Jörn M. Völker, Mykola Dergai, Luciano A. Abriata, Yves Mingard, Daniel Ysselstein, Dimitri Krainc, Matteo Dal Peraro, Gabriele Fischer von Mollard, Dirk Fasshauer, Judith Koliwer, Michael Schwake
    Disease Models & Mechanisms 2017 10: 1391-1398; doi: 10.1242/dmm.029132

    Summary: Mutations in the Qb-SNARE GOSR2 cause progressive myoclonus epilepsies. The authors report the effect of two mutations on SNARE function to investigate their correlation with progression and severity of disease.

  • Open Access
    Chronic psychosocial stress disturbs long-bone growth in adolescent mice
    Sandra Foertsch, Melanie Haffner-Luntzer, Jochen Kroner, Florian Gross, Kathrin Kaiser, Maike Erber, Stefan O. Reber, Anita Ignatius
    Disease Models & Mechanisms 2017 10: 1399-1409; doi: 10.1242/dmm.030916

    Summary: Chronic psychosocial stress is a known risk factor for many somatic disorders. The authors demonstrate that chronic psychosocial stress negatively affects endochondral ossification in the growth plate, as well as long-bone growth. This article has an associated First Person interview with the first author of the paper as part of the supplementary information.

  • Open Access
    Evaluation of human dermal fibroblasts directly reprogrammed to adipocyte-like cells as a metabolic disease model
    Jian-Hua Chen, Kim Jee Goh, Nuno Rocha, Matthijs P. Groeneveld, Marina Minic, Timothy G. Barrett, David Savage, Robert K. Semple
    Disease Models & Mechanisms 2017 10: 1411-1420; doi: 10.1242/dmm.030981

    Summary: Human dermal fibroblasts can be reprogrammed efficiently to adipocyte-like cells that have utility for modelling some aspects of human monogenic metabolic disease.

  • Open Access
    Early neonatal loss of inhibitory synaptic input to the spinal motor neurons confers spina bifida-like leg dysfunction in a chicken model
    Md. Sakirul Islam Khan, Hiroaki Nabeka, Farzana Islam, Tetsuya Shimokawa, Shouichiro Saito, Xuan Li, Soichiro Kawabe, Fumihiko Hamada, Tetsuya Tachibana, Seiji Matsuda
    Disease Models & Mechanisms 2017 10: 1421-1432; doi: 10.1242/dmm.031054

    Summary: Consistent with the symptoms of humans with SBA, chickens with SBA-like features exhibit lower-limb paralysis within two weeks after hatching, which appeared to coincide with synaptic change-induced disruption of spinal motor networks.

  • Open Access
    Inclusion criteria update for the rat intraluminal ischaemic model for preclinical studies
    Héctor Fernández-Susavila, Ramón Iglesias-Rey, Antonio Dopico-López, María Pérez-Mato, Tomás Sobrino, José Castillo, Francisco Campos
    Disease Models & Mechanisms 2017 10: 1433-1438; doi: 10.1242/dmm.029868

    Summary: Laser Doppler monitoring in combination with diffusion-weighted imaging and magnetic resonance angiography represents a reliable inclusion protocol during ischaemic surgery for the analysis of protective drugs in the acute phase of stroke.

  • Open Access
    Mecp2 regulates tnfa during zebrafish embryonic development and acute inflammation
    M. van der Vaart, O. Svoboda, B. G. Weijts, R. Espín-Palazón, V. Sapp, T. Pietri, M. Bagnat, A. R. Muotri, D. Traver
    Disease Models & Mechanisms 2017 10: 1439-1451; doi: 10.1242/dmm.026922

    Summary: As shown by evaluating the levels of pro- and anti-inflammatory cytokines in mecp2-null zebrafish, Mecp2 is required for tnfa expression during zebrafish development and inflammation.

  • Open Access
    A Drosophila model of insulin resistance associated with the human TRIB3 Q/R polymorphism
    Zachary Fischer, Rahul Das, Anna Shipman, Jin-Yuan Fan, Laramie Pence, Samuel Bouyain, Leonard L. Dobens
    Disease Models & Mechanisms 2017 10: 1453-1464; doi: 10.1242/dmm.030619

    Summary: The insulin signaling inhibitor tribbles 3 (TRIB3) variant associated with Type II diabetes has parallel effects in a fly model system on Tribbles-regulated insulin signaling, growth and Akt activation.

  • Open Access
    Rescue of ATXN3 neuronal toxicity in Caenorhabditis elegans by chemical modification of endoplasmic reticulum stress
    Yasmin Fardghassemi, Arnaud Tauffenberger, Sarah Gosselin, J. Alex Parker
    Disease Models & Mechanisms 2017 10: 1465-1480; doi: 10.1242/dmm.029736

    Summary: We introduce a novel C. elegans model for Machado–Joseph disease for use in preclinical drug discovery and identified guanabenz as a potent neuroprotective molecule.

  • Open Access
    Lyplal1 is dispensable for normal fat deposition in mice
    Rachel A. Watson, Amy S. Gates, Elizabeth H. Wynn, Fiona E. Calvert, Amandine Girousse, Christopher J. Lelliott, Inês Barroso
    Disease Models & Mechanisms 2017 10: 1481-1488; doi: 10.1242/dmm.031864

    Summary: We demonstrate that the Lyplal1 gene is dispensable in mice, with important implications for interpretation of GWAS results linking Lyplal1 to metabolism and fat distribution. This article has an associated First Person interview with the first author of the paper as part of the supplementary information.

  • Open Access
    Systemic HIV-1 infection produces a unique glial footprint in humanized mouse brains
    Weizhe Li, Santhi Gorantla, Howard E. Gendelman, Larisa Y. Poluektova
    Disease Models & Mechanisms 2017 10: 1489-1502; doi: 10.1242/dmm.031773

    Summary: In mice with a humanized brain and immune system, systemic infection led to human-specific transcriptional induction of glial interferon antiviral innate immune pathways and alteration of neuronal progenitor differentiation and myelination.

  • Open Access
    Renal carcinoma/kidney progenitor cell chimera organoid as a novel tumorigenesis gene discovery model
    Qi Xu, Sanna Junttila, Andreas Scherer, Khem Raj Giri, Oona Kivelä, Ilya Skovorodkin, Juha Röning, Susan E. Quaggin, Hans-Peter Marti, Jingdong Shan, Anatoly Samoylenko, Seppo J. Vainio
    Disease Models & Mechanisms 2017 10: 1503-1515; doi: 10.1242/dmm.028332

    Editor’s Choice: Chimeras between embryonic kidney cells and renal carcinoma cells serve as a novel model to assay the roles of co-regulated genes in kidney development and renal carcinogenesis.

  • Open Access
    Noncanonical NF-κB signaling and the essential kinase NIK modulate crucial features associated with eosinophilic esophagitis pathogenesis
    Kristin Eden, Daniel E. Rothschild, Dylan K. McDaniel, Bettina Heid, Irving C. Allen
    Disease Models & Mechanisms 2017 10: 1517-1527; doi: 10.1242/dmm.030767

    Summary: Analyses of Nik–/– mice and human gene expression data reveal a new pathway involved in the development of eosinophilic esophagitis in human patients and mouse models of the disease. This article has an associated First Person interview with the first author of the paper as part of the supplementary information.

  • Open Access
    Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia
    Hong Lin, Jordi Magrane, Elisia M. Clark, Sarah M. Halawani, Nathan Warren, Amy Rattelle, David R. Lynch
    Disease Models & Mechanisms 2017 10: 1529-1538; doi: 10.1242/dmm.030049

    Summary: Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit might be potential mediators of cerebellar dysfunction and ataxia in the KIKO mouse model of Friedreich ataxia.

CORRESPONDENCE

  • Open Access
    Helicobacter pylori infection of AZ-521 cells reveals a type IV secretion defect and VacA-independent CagA phosphorylation
    Nicole Tegtmeyer, Steffen Backert
    Disease Models & Mechanisms 2017 10: 1539-1540; doi: 10.1242/dmm.032813
  • Open Access
    Response to ‘Helicobacter pylori infection of AZ-521 cells reveals a type IV secretion defect and VacA-independent CagA phosphorylation’
    Masayuki Nakano, Toshiya Hirayama
    Disease Models & Mechanisms 2017 10: 1541-1543; doi: 10.1242/dmm.032821

CORRECTION

  • Open Access
    Correction: Lysyl oxidases regulate fibrillar collagen remodelling in idiopathic pulmonary fibrosis (doi: 10.1242/dmm.030114)
    Gavin Tjin, Eric S. White, Alen Faiz, Delphine Sicard, Daniel J. Tschumperlin, Annabelle Mahar, Eleanor P. W. Kable, Janette K. Burgess
    Disease Models & Mechanisms 2017 10: 1545 doi: 10.1242/dmm.033191
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  • Open Access

    Modelling epilepsy in the mouse: challenges and solutions

    Grant F. Marshall, Alfredo Gonzalez-Sulser, Catherine M. Abbott
    PDF
  • Open Access

    EZH2 is required for parathyroid and thymic development through differentiation of the third pharyngeal pouch endoderm

    Cinzia Caprio, Gabriella Lania, Marchesa Bilio, Rosa Ferrentino, Li Chen, Antonio Baldini
    PDF
  • Open Access

    High-dose vitamin B1 therapy prevents the development of experimental fatty liver driven by overnutrition

    Mugagga Kalyesubula, Ramgopal Mopuri, Jimmy Asiku, Alexander Rosov, Sara Yosefi, Nir Edery, Samuel Bocobza, Uzi Moallem, Hay Dvir
    PDF
  • Open Access

    Transformed notochordal cells trigger chronic wounds destabilizing the vertebral column and bone homeostasis

    Paco López-Cuevas, Luke Deane, Yushi Yang, Chrissy L Hammond, Erika Kague
    PDF
  • Open Access

    Multiscale molecular profiling of pathological bone resolves sexually dimorphic control of extracellular matrix composition

    Aikta Sharma, Alice Goring, Peter B. Johnson, Roger J. H. Emery, Eric Hesse, Alan Boyde, Bjorn R. Olsen, Andrew A. Pitsillides, Richard O. C. Oreffo, Sumeet Mahajan, Claire E. Clarkin
    PDF
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DMM and COVID-19

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Monica Justice bids farewell to DMM

In her farewell Editorial, outgoing Editor-in-Chief Monica Justice reminds us of the past half-decade of growth and of DMM's commitment to support the disease modelling community, concluding, “The knowledge and experience I gained during my time as Senior Editor and EiC at DMM is invaluable: working within a not-for-profit community publishing environment is a joy.”


3D imaging of beta cell mass in diabetic mouse models

In their inducible mouse model of diabetes, Roostalu et al. demonstrate how quantitative light-sheet imaging can capture changes in individual islets to help pharmacological research in diabetes.

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Modelling Joubert syndrome patient-derived mutations in C. elegans

In this issue’s Editor’s choice, Karen Lange and colleagues used C. elegans to model and characterise two patient-derived mutations that cause the ciliopathy Joubert syndrome.


Interview – Karen Lange

First author of our current Editor’s choice, Karen Lange takes us behind the scenes of the paper, and shares her thoughts on how the lack of both time and job security will impact her research.

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