Article
The desmin mutation R349P increases contractility and fragility of stem cell-generated muscle micro-tissues.
Neuropathology and applied neurobiology - 1 Apr 2022
Spörrer Marina, Kah Delf, Gerum Richard C, Reischl Barbara, Huraskin Danyil, Dessalles Claire A, Schneider Werner, Goldmann Wolfgang H, Herrmann Harald, Thievessen Ingo, Clemen Christoph S, Friedrich Oliver, Hashemolhosseini Said, Schröder Rolf, Fabry Ben
Abstract excerpt
AIMS: Desminopathies comprise hereditary myopathies and cardiomyopathies caused by mutations in the intermediate filament protein desmin that lead to severe and often lethal degeneration of striated muscle tissue. Animal and single cell studies hinted that this degeneration process is associated with massive ultrastructural defects correlating with increased susceptibility of the muscle to acute mechanical...
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