Human Mendelian disease and in vivo mutagenesis screening define the molecular architecture of the U8 snoRNA
Andrew P. Badrock, Katryna Bell, Jian You Lau, Ankit Pathak, Cameron Wyatt, Christos Prapiadis, Raymond T. O’Keefe, Joseph A. Marsh, Grzegorz R. Kudla, Yanick Joseph Crow
The paper identifies molecular domains in the U8 snoRNA affected by LCC mutations and shows how U8 function impacts stability through a post-transcriptional mechanism.
bioRxiv · Oct 10, 2025 · PreprintNeuroscience