Desmin in muscle and associated diseases: beyond the structural function
Abstract
Desmin is a muscle-specific type III intermediate filament essential for proper muscular structure and function. In human, mutations affecting desmin expression or promoting its aggregation lead to skeletal (desmin-related myopathies), or cardiac (desmin-related cardiomyopathy) phenotypes, or both. Patient muscles display intracellular accumulations of misfolded proteins and desmin-positive insoluble granulofilamentous aggregates, leading to a...
Paper Details
Title
Desmin in muscle and associated diseases: beyond the structural function
Published Date
Jun 1, 2015
Journal
Volume
360
Issue
3
Pages
591 - 608
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Notes
History