Intermediate Filament Diseases: Desminopathy

Intermediate filaments as mechanical integrators of cellular space

Elias Lazarides · Nature · 1980 · 2K citations

Mechanobiology, Engineering, Intracellular Transport +10

Influence of proline residues on protein conformation

Malcolm W. MacArthur, Janet M. Thornton · Journal of Molecular Biology · 1991 · 1.2K citations

Protein Chemistry, Protein Assembly, Biochemistry +4

A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

Patrick Vicart, Anne Caron, Pascale Guicheney et al. · Nature Genetics · 1998 · 1.1K citations

Genetic Disorder, Genetics, Missense Mutation +6

Disruption of muscle architecture and myocardial degeneration in mice lacking desmin.

Derek J. Milner, Georg Weitzer, Daisy Tran et al. · The Journal of Cell Biology · 1996 · 517 citations · Full text

Mechanobiology, Cardiac Muscle, Cardiomyopathy +15

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

Lev G. Goldfarb, Kyeyoon Park, Larisa Červen̆áková et al. · Nature Genetics · 1998 · 503 citations

Missense Mutations, Cardiomyopathy, Mendelian Disorder +7