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Subject collection: Stem Cells

  • RESEARCH ARTICLE
    Altered cytoskeletal arrangement in induced pluripotent stem cells 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
    Disease Models & Mechanisms 2021 14: dmm046391 doi: 10.1242/dmm.046391 Published 24 February 2021

    Summary: This study deals with pathomechanisms underlying riboflavin transporter deficiency, a rare recessively inherited early-onset neurodegenerative condition. Using patient-derived iPSCs, we report on cytoskeletal abnormalities, which are reverted by combined riboflavin/antioxidant treatment.

  • RESOURCE ARTICLE
    Mutant non-coding RNA resource in mouse embryonic stem cells
    Jens Hansen, Harald von Melchner, Wolfgang Wurst
    Disease Models & Mechanisms 2021 14: dmm047803 doi: 10.1242/dmm.047803 Published 5 February 2021

    Summary: Analysis of a large library of mouse embryonic stem cell lines with gene trap insertions revealed mutations in 2202 unique non-coding RNA genes, which will significantly contribute to the functional annotation of non-coding RNA genes.

  • REVIEW
    Haematopoietic ageing through the lens of single-cell technologies
    Paulina M. Strzelecka, Frederik Damm
    Disease Models & Mechanisms 2021 14: dmm047340 doi: 10.1242/dmm.047340 Published 22 January 2021

    Summary: We discuss the cellular changes that occur during haematopoietic ageing at the different molecular levels, and provide an overview of the benefits of investigating those changes with single-cell precision.

  • REVIEW
    Pulmonary neuroendocrine cells: physiology, tissue homeostasis and disease
    Masafumi Noguchi, Kana T. Furukawa, Mitsuru Morimoto
    Disease Models & Mechanisms 2020 13: dmm046920 doi: 10.1242/dmm.046920 Published 21 December 2020

    Summary: This Review highlights the physiological relevance of pulmonary neuroendocrine cells, rare airway epithelial cells that form intrapulmonary sensory organs, abnormalities of which are associated with several pulmonary disorders, such as asthma and lung cancer.

  • RESEARCH ARTICLE
    Duchenne muscular dystrophy (DMD) cardiomyocyte-secreted exosomes promote the pathogenesis of DMD-associated cardiomyopathy
    Melanie Gartz, Chien-Wei Lin, Mark A. Sussman, Michael W. Lawlor, Jennifer L. Strande
    Disease Models & Mechanisms 2020 13: dmm045559 doi: 10.1242/dmm.045559 Published 13 November 2020

    Summary: This study examines the consequential effects of exposure to diseased exosomes in a cell model of Duchenne muscular dystrophy (DMD). The findings support a detrimental role for long-term DMD cardiac exosome exposure.

  • RESEARCH ARTICLE
    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.

  • RESEARCH ARTICLE
    Silencing of CCR4-NOT complex subunits affects heart structure and function
    Lisa Elmén, Claudia B. Volpato, Anaïs Kervadec, Santiago Pineda, Sreehari Kalvakuri, Nakissa N. Alayari, Luisa Foco, Peter P. Pramstaller, Karen Ocorr, Alessandra Rossini, Anthony Cammarato, Alexandre R. Colas, Andrew A. Hicks, Rolf Bodmer
    Disease Models & Mechanisms 2020 13: dmm044727 doi: 10.1242/dmm.044727 Published 20 July 2020

    Summary: Genome-wide association studies combined with in vitro human cardiac cell assays and a model organism suitable for heart studies in vivo connect CNOT1, CNOT7 and overall the CCR4-NOT complex to human heart disease and morbidity.

  • RESEARCH ARTICLE
    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.

  • REVIEW
    Addressing variability in iPSC-derived models of human disease: guidelines to promote reproducibility
    Viola Volpato, Caleb Webber
    Disease Models & Mechanisms 2020 13: dmm042317 doi: 10.1242/dmm.042317 Published 17 January 2020

    Summary: This Review discusses approaches to deal with and reduce cellular heterogeneity in induced pluripotent stem cell-based studies, enabling experiments to be reproducible and meaningful.

  • RESEARCH ARTICLE
    Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
    Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson
    Disease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020

    Summary: The authors describe a neuronal model to investigate how mutations in the copper transporter ATP7A cause axonal degeneration in the peripheral nervous system.

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