Tamoxifen therapy in a murine model of myotubular myopathy View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-11-19

AUTHORS

Nika Maani, Nesrin Sabha, Kamran Rezai, Arun Ramani, Linda Groom, Nadine Eltayeb, Faranak Mavandadnejad, Andrea Pang, Giulia Russo, Michael Brudno, Volker Haucke, Robert T. Dirksen, James J. Dowling

ABSTRACT

Myotubular myopathy (MTM) is a severe X-linked disease without existing therapies. Here, we show that tamoxifen ameliorates MTM-related histopathological and functional abnormalities in mice, and nearly doubles survival. The beneficial effects of tamoxifen are mediated primarily via estrogen receptor signaling, as demonstrated through in vitro studies and in vivo phenotypic rescue with estradiol. RNA sequencing and protein expression analyses revealed that rescue is mediated in part through post-transcriptional reduction of dynamin-2, a known MTM modifier. These findings demonstrate an unexpected ability of tamoxifen to improve the murine MTM phenotype, providing preclinical evidence to support clinical translation. More... »

PAGES

4849

References to SciGraph publications

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  • Journal

    TITLE

    Nature Communications

    ISSUE

    1

    VOLUME

    9

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41467-018-07057-5

    DOI

    http://dx.doi.org/10.1038/s41467-018-07057-5

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1109934296

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30451841


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