期刊
EMBO REPORTS
卷 14, 期 10, 页码 907-915出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/embor.2013.119
关键词
amphiphysin; BIN1; centronuclear myopathy; myotubular myopathy; MTM1; myotubularin
资金
- INSERM
- CNRS
- UdS
- College de France
- FRM
- E-rare program
- ANR
- AFM
- ARC
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.
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