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Membrane Traffic and Muscle: Lessons from Human Disease
Author(s) -
Dowling James J.,
Gibbs Elizabeth M.,
Feldman Eva L.
Publication year - 2008
Publication title -
traffic
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.677
H-Index - 130
eISSN - 1600-0854
pISSN - 1398-9219
DOI - 10.1111/j.1600-0854.2008.00716.x
Subject(s) - biology , skeletal muscle , microbiology and biotechnology , membrane protein , homeostasis , neuroscience , membrane , genetics , anatomy
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.