RNA–protein interactions in unstable microsatellite diseases (original) (raw)

“…Another potential pathogenic mechanism is RNA-mediated toxicity, in which the formation of RNA foci and sequestration of specific RNA-binding proteins is associated with mis-regulation of RNA processing in repeat-expansion diseases (Mohan et al, 2014). In the case of C9ORF72 FTD/ALS, RNA foci are found mostly in the nucleus of multiple cell types, such as brain cells and fibroblasts from patients and neurons derived from induced pluripotent stem cells (iPSCs) (Almeida et al, 2013; DeJesus-Hernandez et al, 2011; Donnelly et al, 2013; Gendron et al, 2013; Lagier-Tourenne et al, 2013; May et al, 2014; Mizielinska et al, 2014; Sareen et al, 2013; Zu et al, 2013).…”