A heterozygous p.S143P mutation in LMNA associates with proteasome dysfunction and enhanced autophagy-mediated degradation of mutant lamins A and C
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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