Reposted by Solène Hervé
First Bluesky post for my new preprint! Super fun project with guidance from @abbybuch.bsky.social and @willowcoyote.bsky.social. We applied saturation mutagenesis to the Lamin A protein in #hiPSC derived cardiac cells to uncover cell type-specific mutation effects 1/ www.biorxiv.org/content/10.6...
biorxiv.org
Cardiomyocyte vulnerability to lamin polymer disruption revealed by saturation mutagenesis
Hundreds of mutations to the broadly expressed LMNA gene cause disease primarily within cardiac, muscular, and adipose tissues (1). Tissue-specific pathogenesis arises when mutant protein dysfunction ...
