Article
Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy.
Journal of cell science - 1 Mar 2017
Hofhuis Julia, Bersch Kristina, Büssenschütt Ronja, Drzymalski Marzena, Liebetanz David, Nikolaev Viacheslav O, Wagner Stefan, Maier Lars S, Gärtner Jutta, Klinge Lars, Thoms Sven
Abstract excerpt
The multi-C2 domain protein dysferlin localizes to the plasma membrane and the T-tubule system in skeletal muscle; however, its physiological mode of action is unknown. Mutations in the DYSF gene lead to autosomal recessive limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Here, we show that dysferlin has membrane tubulating capacity and that it shapes the T-tubule system. Dysferlin tubulates...
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