Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

The muscle specific isoform of the supervillin protein (SV2), encoded by the SVIL gene, is a large sarcolemmal myosin II- and F-actin-binding protein. Supervillin (SV2) binds and co-localizes with costameric dystrophin and binds nebulin, potentially attaching the sarcolemma to myofibrillar Z-lines....

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書誌詳細
出版年:Brain
主要な著者: Hedberg-Oldfors, Carola, Meyer, Robert, Nolte, Kay, Abdul Rahim, Yassir, Lindberg, Christopher, Karason, Kristjan, Thuestad, Inger Johanne, Visuttijai, Kittichate, Geijer, Mats, Begemann, Matthias, Kraft, Florian, Lausberg, Eva, Hitpass, Lea, Götzl, Rebekka, Luna, Elizabeth J, Lochmüller, Hanns, Koschmieder, Steffen, Gramlich, Michael, Gess, Burkhard, Elbracht, Miriam, Weis, Joachim, Kurth, Ingo, Oldfors, Anders, Knopp, Cordula
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2020
主題:
Original Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7447519/
https://ncbi.nlm.nih.gov/pubmed/32779703
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awaa206
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