Article
A laminopathic mutation disrupting lamin filament assembly causes disease-like phenotypes in Caenorhabditis elegans.
Molecular biology of the cell - 1 Aug 2011
Bank Erin M, Ben-Harush Kfir, Wiesel-Motiuk Naama, Barkan Rachel, Feinstein Naomi, Lotan Oren, Medalia Ohad, Gruenbaum Yosef
Abstract excerpt
Mutations in the human LMNA gene underlie many laminopathic diseases, including Emery-Dreifuss muscular dystrophy (EDMD); however, a mechanistic link between the effect of mutations on lamin filament assembly and disease phenotypes has not been established. We studied the ΔK46 Caenorhabditis elegans lamin mutant, corresponding to EDMD-linked ΔK32 in human lamins A and C. Cryo-electron tomography of lamin ΔK46...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
