A heterozygous p.S143P mutation in LMNA associates with proteasome dysfunction and enhanced autophagy-mediated degradation of mutant lamins A and C
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.932983
Abstract: Lamins A and C are nuclear intermediate filament proteins that form a proteinaceous meshwork called lamina beneath the inner nuclear membrane. Mutations in the LMNA gene encoding lamins A and C cause a heterogenous group… read more here.
Keywords: mutant lamins; s143p mutation; mutation lmna; heterozygous s143p ... See more keywords
Effects of mutant lamins on nucleo-cytoskeletal coupling in Drosophila models of LMNA muscular dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.934586
Abstract: The nuclei of multinucleated skeletal muscles experience substantial external force during development and muscle contraction. Protection from such forces is partly provided by lamins, intermediate filaments that form a scaffold lining the inner nuclear membrane.… read more here.
Keywords: mutant lamins; drosophila models; muscular dystrophy; cytoskeletal coupling ... See more keywords