Membrane traffic and muscle: lessons from human disease
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Updated: Jul 7, 2026

Visualization of MG53-mediated Cell Membrane Repair Using in vivo and in vitro Systems
Published on: June 30, 2011
James J Dowling1, Elizabeth M Gibbs, Eva L Feldman
1Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, MI 48109, USA. jamedowl@med.umich.edu
Abstract:
Like all mammalian tissues, skeletal muscle is dependent on membrane traffic for proper development and homeostasis. This fact is underscored by the observation that several human diseases of the skeletal muscle are caused by mutations in gene products of the membrane trafficking machinery. An examination of these diseases and the proteins that underlie them is instructive both in terms of determining disease pathogenesis and of understanding the normal aspects of muscle biology regulated by membrane traffic. This review highlights our current understanding of the trafficking genes responsible for human myopathies.
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