The Myotubularin-amphiphysin 2 Complex in Membrane Tubulation and Centronuclear Myopathies

Overview

Journal EMBO Rep

Specialty Molecular Biology

Date 2013 Aug 7

PMID 23917616

Citations 33

Authors

Barbara Royer

Karim Hnia

Christos Gavriilidis

Helene Tronchere

Valerie Tosch

Jocelyn Laporte

Affiliations

Soon will be listed here.

Abstract

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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