Article
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
The Journal of clinical investigation - 1 Jan 2011
Hnia Karim, Tronchère Helene, Tomczak Kinga K, Amoasii Leonela, Schultz Patrick, Beggs Alan H, Payrastre Bernard, Mandel Jean Louis, Laporte Jocelyn
Abstract excerpt
Muscle contraction relies on a highly organized intracellular network of membrane organelles and cytoskeleton proteins. Among the latter are the intermediate filaments (IFs), a large family of proteins mutated in more than 30 human diseases. For example, mutations in the DES gene, which encodes the IF desmin, lead to desmin-related myopathy and cardiomyopathy. Here, we demonstrate that myotubularin (MTM1), which...
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