| First Author | Hofhuis J | Year | 2017 |
| Journal | J Cell Sci | Volume | 130 |
| Issue | 5 | Pages | 841-852 |
| PubMed ID | 28104817 | Mgi Jnum | J:246730 |
| Mgi Id | MGI:5922340 | Doi | 10.1242/jcs.198861 |
| Citation | Hofhuis J, et al. (2017) Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy. J Cell Sci 130(5):841-852 |
| abstractText | 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. |
