title: Membrane traffic and muscle: lessons from human disease.
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.
authors.affiliation: Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, MI 48109, USA. jamedowl@med.umich.edu
authors.forename: James J
authors.initials: JJ
authors.lastname: Dowling
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Gibbs
authors.forename: Eva L
authors.initials: EL
authors.lastname: Feldman
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000378:metabolism; D051244:Caveolin 3 / Q000378:metabolism; D002462:Cell Membrane / Q000378:metabolism*; D034285:Dynamin II / Q000378:metabolism; D000073939:Dysferlin; D005786:Gene Expression Regulation; D006706:Homeostasis; D006801:Humans; D008565:Membrane Proteins / Q000378:metabolism; D008954:Models, Biological; D009124:Muscle Proteins / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism; D009132:Muscles / Q000378:metabolism; D009135:Muscular Diseases / Q000378:metabolism; D009154:Mutation; D009687:Nuclear Proteins / Q000378:metabolism; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000378:metabolism; D011506:Proteins / Q000378:metabolism; D025521:Tumor Suppressor Proteins / Q000378:metabolism
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C101410:BIN1 protein, human; D051244:Caveolin 3; C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D009687:Nuclear Proteins; D011506:Proteins; D025521:Tumor Suppressor Proteins; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin; D034285:Dynamin II