The biology of desmin filaments: how do mutations affect their structure, assembly, and organisation?

H Bär, SV Strelkov, G Sjöberg, U Aebi… - Journal of structural …, 2004 - Elsevier
Desmin, the major intermediate filament (IF) protein of muscle, is evolutionarily highly
conserved from shark to man. Recently, an increasing number of mutations of the desmin
gene has been described to be associated with human diseases such as certain skeletal
and cardiac myopathies. These diseases are histologically characterised by intracellular
aggregates containing desmin and various associated proteins. Although there is progress
regarding our knowledge on the cellular function of desmin within the cytoskeleton, the …