EXOSC3 S1-domain variants implicated in PCH1b alter RNA exosome cap subunit abundance and thermal stability disrupting rRNA processing and targeting of AU-rich mRNA
Avery M. Runnebohm, H. R. Sagara Wijeratne, Monica P. Barron, Whitney R. Smith-Kinnaman, James D. Rooney, Sarah A. Peck Justice, Lauryn A. Cureton, Annalise Holland, Homa Ghalei, S. William Pelletier, Emma H. Doud, Jonah Z. Vilseck, Amber L. Mosley
The paper investigates how EXOSC3 S1-domain variants disrupt RNA exosome function, leading to altered rRNA processing and mRNA targeting.
bioRxiv · May 31, 2025 · PreprintSystems Biology