| First Author | Royer B | Year | 2013 |
| Journal | EMBO Rep | Volume | 14 |
| Issue | 10 | Pages | 907-15 |
| PubMed ID | 23917616 | Mgi Jnum | J:203880 |
| Mgi Id | MGI:5528957 | Doi | 10.1038/embor.2013.119 |
| Citation | Royer B, et al. (2013) The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies. EMBO Rep 14(10):907-15 |
| abstractText | Myotubularin (MTM1) and amphiphysin 2 (BIN1) are two proteins mutated in different forms of centronuclear myopathy, but the functional and pathological relationship between these two proteins was unknown. Here, we identified MTM1 as a novel binding partner of BIN1, both in vitro and endogenously in skeletal muscle. Moreover, MTM1 enhances BIN1-mediated membrane tubulation, depending on binding and phosphoinositide phosphatase activity. BIN1 patient mutations induce a conformational change in BIN1 and alter its binding and regulation by MTM1. In conclusion, we identified the first molecular and functional link between MTM1 and BIN1, supporting a common pathological mechanism in different forms of centronuclear myopathy. |
