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Citations to this article

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle
Karim Hnia, … , Jean Louis Mandel, Jocelyn Laporte
Karim Hnia, … , Jean Louis Mandel, Jocelyn Laporte
Published December 6, 2010
Citation Information: J Clin Invest. 2011;121(1):70-85. https://doi.org/10.1172/JCI44021.
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Research Article Muscle biology Article has an altmetric score of 7

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle

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Abstract

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 is mutated in individuals with X-linked centronuclear myopathy (XLCNM; also known as myotubular myopathy), is a desmin-binding protein and provide evidence for direct regulation of desmin by MTM1 in vitro and in vivo. XLCNM-causing mutations in MTM1 disrupted the MTM1-desmin complex, resulting in abnormal IF assembly and architecture in muscle cells and both mouse and human skeletal muscles. Adeno-associated virus–mediated ectopic expression of WT MTM1 in Mtm1-KO muscle reestablished normal desmin expression and localization. In addition, decreased MTM1 expression and XLCNM-causing mutations induced abnormal mitochondrial positioning, shape, dynamics, and function. We therefore conclude that MTM1 is a major regulator of both the desmin cytoskeleton and mitochondria homeostasis, specifically in skeletal muscle. Defects in IF stabilization and mitochondrial dynamics appear as common physiopathological features of centronuclear myopathies and desmin-related myopathies.

Authors

Karim Hnia, Helene Tronchère, Kinga K. Tomczak, Leonela Amoasii, Patrick Schultz, Alan H. Beggs, Bernard Payrastre, Jean Louis Mandel, Jocelyn Laporte

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Total citations by year

Year: 2025 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 Total
Citations: 1 3 6 5 7 7 5 5 4 3 1 7 5 8 1 68
Citation information
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Citations to this article in year 2013 (5)

Title and authors Publication Year
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish
VA Gupta, K Hnia, LL Smith, SR Gundry, JE McIntire, J Shimazu, JR Bass, EA Talbot, L Amoasii, NE Goldman, J Laporte, AH Beggs
PLoS genetics 2013
Phosphoinositides: tiny lipids with giant impact on cell regulation
T Balla
Physiological reviews 2013
The specificity of the interaction between αB-crystallin and desmin filaments and its impact on filament aggregation and cell viability
JL Elliott, MD Perng, AR Prescott, KA Jansen, GH Koenderink, RA Quinlan
Philosophical Transactions of The Royal Society B Biological Sciences 2013
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy
MW Lawlor, D Armstrong, MG Viola, JJ Widrick, H Meng, RW Grange, MK Childers, CP Hsu, M O'Callaghan, CR Pierson, A Buj-Bello, AH Beggs
Human Molecular Genetics 2013
Extensive morphological and immunohistochemical characterization in myotubular myopathy
M Shichiji, V Biancalana, M Fardeau, JY Hogrel, M Osawa, J Laporte, NB Romero
Brain and Behavior 2013

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