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Subject collection: Rare diseases

  • RESOURCE ARTICLE
    Cancer modeling by Transgene Electroporation in Adult Zebrafish (TEAZ)
    Scott J. Callahan, Stephanie Tepan, Yan M. Zhang, Helen Lindsay, Alexa Burger, Nathaniel R. Campbell, Isabella S. Kim, Travis J. Hollmann, Lorenz Studer, Christian Mosimann, Richard M. White
    Disease Models & Mechanisms 2018 11: dmm034561 doi: 10.1242/dmm.034561 Published 27 September 2018

    Summary: Here, we developed Transgene Electroporation in Adult Zebrafish (TEAZ), a method that enables researchers to study cancer and metastasis by introducing DNA elements focally into somatic adult tissue.

  • RESEARCH ARTICLE
    Soluble endoglin regulates expression of angiogenesis-related proteins and induction of arteriovenous malformations in a mouse model of hereditary hemorrhagic telangiectasia
    Eunate Gallardo-Vara, Simon Tual-Chalot, Luisa M. Botella, Helen M. Arthur, Carmelo Bernabeu
    Disease Models & Mechanisms 2018 11: dmm034397 doi: 10.1242/dmm.034397 Published 21 September 2018

    Summary: Soluble endoglin regulates vascular development and arteriovenous malformations by modulating angiogenesis, and its effect on endothelial cells depends on expression of endogenous membrane-bound endoglin.

  • RESEARCH ARTICLE
    A Drosophila model of combined D-2- and L-2-hydroxyglutaric aciduria reveals a mechanism linking mitochondrial citrate export with oncometabolite accumulation
    Hongde Li, Alexander J. Hurlburt, Jason M. Tennessen
    Disease Models & Mechanisms 2018 11: dmm035337 doi: 10.1242/dmm.035337 Published 21 September 2018

    Summary: This study reveals a mechanism that links export of mitochondrial citrate to accumulation of the oncometabolite L-2-hydroxyglutarate, suggesting a potential treatment for individuals with combined D-2- and L-2-hydroxyglutaric aciduria, a rare inborn error of metabolism.

  • RESEARCH ARTICLE
    Aberrant cerebellar Purkinje cell activity as the cause of motor attacks in a mouse model of episodic ataxia type 2
    Esra Tara, Ariel Vitenzon, Ellen Hess, Kamran Khodakhah
    Disease Models & Mechanisms 2018 11: dmm034181 doi: 10.1242/dmm.034181 Published 21 September 2018

    Summary: Here, we report that in the well-established mouse model of episodic ataxia type 2, tottering, the severe episodic motor signs are caused by highly erratic activity of Purkinje cells.

  • RESEARCH ARTICLE
    Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage
    Katharina Dannhausen, Christoph Möhle, Thomas Langmann
    Disease Models & Mechanisms 2018 11: dmm033597 doi: 10.1242/dmm.033597 Published 5 September 2018

    Summary: Here, we established a light-damage paradigm to model retinal degeneration in the juvenile neuronal ceroid lipofuscinosis mouse and showed the beneficial effects of minocycline on retinal pathology.

  • RESEARCH ARTICLE
    Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds
    Wei-Chia Tseng, Hannah E. Loeb, Wuhong Pei, Chon-Hwa Tsai-Morris, Lisha Xu, Celine V. Cluzeau, Christopher A. Wassif, Benjamin Feldman, Shawn M. Burgess, William J. Pavan, Forbes D. Porter
    Disease Models & Mechanisms 2018 11: dmm034165 doi: 10.1242/dmm.034165 Published 15 August 2018

    Summary: A zebrafish genetic model of Niemann-Pick disease type C1 is suitable for performing in vivo screening of candidate therapeutic compounds by examining LysoTracker staining intensity in neuromasts.

  • RESEARCH ARTICLE
    Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia
    Yumi Ueki, Veronika Shchepetkina, Frances Lefcort
    Disease Models & Mechanisms 2018 11: dmm033746 doi: 10.1242/dmm.033746 Published 30 July 2018

    Summary: The elongator subunit IKBKAP/ELP1 is not required for development, but is essential for maintaining mitochondrial function and retina morphology. Loss of this subunit causes progressive, selective degeneration of retinal ganglion cells.

  • RESEARCH ARTICLE
    Etiology and treatment of adrenoleukodystrophy: new insights from Drosophila
    Hannah B. Gordon, Lourdes Valdez, Anthea Letsou
    Disease Models & Mechanisms 2018 11: dmm031286 doi: 10.1242/dmm.031286 Published 15 June 2018

    Summary: Using a Drosophila model of adrenoleukodystrophy, the authors provide evidence against the current view that an accumulation of lipid metabolic pathway precursors is causative of this neurometabolic disease. Rather, a lack of pathway product is the causative factor and addition of medium-chain fatty acids to the diet prevented the onset of neurodegeneration.

  • RESEARCH ARTICLE
    A novel rabbit model of Duchenne muscular dystrophy generated by CRISPR/Cas9
    Tingting Sui, Yeh Siang Lau, Di Liu, Tingjun Liu, Li Xu, Yandi Gao, Liangxue Lai, Zhanjun Li, Renzhi Han
    Disease Models & Mechanisms 2018 11: dmm032201 doi: 10.1242/dmm.032201 Published 4 June 2018

    Summary: The DMD KO rabbit engineered by CRISPR genome editing faithfully recapitulates the DMD pathologies, and could be a valuable tool for basic and translational studies to combat this disease.

  • RESEARCH ARTICLE
    Sporadic amyotrophic lateral sclerosis (SALS) – skeletal muscle response to cerebrospinal fluid from SALS patients in a rat model
    Shruthi Shanmukha, Gayathri Narayanappa, Atchayaram Nalini, Phalguni Anand Alladi, Trichur R. Raju
    Disease Models & Mechanisms 2018 11: dmm031997 doi: 10.1242/dmm.031997 Published 16 April 2018

    Editor's choice: In amyotrophic lateral sclerosis, a motor neurodegenerative disease, the pathological changes of the skeletal muscle can significantly damage motor neurons, leading to progressive neurodegeneration.

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