Ontology highlight
ABSTRACT:
SUBMITTER: Brodehl A
PROVIDER: S-EPMC3346104 | biostudies-other | 2012 May
REPOSITORIES: biostudies-other
Brodehl Andreas A Hedde Per Niklas PN Dieding Mareike M Fatima Azra A Walhorn Volker V Gayda Susan S Šarić Tomo T Klauke Bärbel B Gummert Jan J Anselmetti Dario D Heilemann Mike M Nienhaus Gerd Ulrich GU Milting Hendrik H
The Journal of biological chemistry 20120308 19
Mutations in the DES gene coding for the intermediate filament protein desmin may cause skeletal and cardiac myopathies, which are frequently characterized by cytoplasmic aggregates of desmin and associated proteins at the cellular level. By atomic force microscopy, we demonstrated filament formation defects of desmin mutants, associated with arrhythmogenic right ventricular cardiomyopathy. To understand the pathogenesis of this disease, it is essential to analyze desmin filament structures unde ...[more]