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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Publicado no:Brain
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
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Original Articles
Acesso em linha: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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