Hofhuis, Julia and Bersch, Kristina and Buessenschuett, Ronja and Drzymalski, Marzena and Liebetanz, David and Nikolaev, ViacheslavO. and Wagner, Stefan and Maier, Lars S. and Gaertner, Jutta and Klinge, Lars and Thoms, Sven (2017) Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy. JOURNAL OF CELL SCIENCE, 130 (5). pp. 841-852. ISSN 0021-9533, 1477-9137
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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 liposomes, generates a T-tubule-like membrane system in non-muscle cells, and links the recruitment of phosphatidylinositol 4,5-bisphosphate to the biogenesis of the T-tubule system. Pathogenic mutant forms interfere with all of these functions, indicating that muscular wasting and dystrophy are caused by the dysferlin mutants' inability to form a functional T-tubule membrane system.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | SKELETAL-MUSCLE FIBERS; C2 DOMAINS REVEALS; CENTRONUCLEAR MYOPATHY; AMPHIPHYSIN-2 BIN1; TRANSVERSE TUBULES; BINDING-PROPERTIES; REPAIR; PHOSPHOINOSITIDES; SARCOLEMMA; MUTATIONS; Dysferlin; T-tubule system; Muscular dystrophy; Dysferlinopathy; Phosphatidylinositol 4, 5-bisphosphate; C2 domain protein; Limb-girdle; muscular dystrophy type 2B; Miyoshi myopathy |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Innere Medizin II |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 14 Dec 2018 13:00 |
| Last Modified: | 27 Feb 2019 12:01 |
| URI: | https://pred.uni-regensburg.de/id/eprint/271 |
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