Truncated RNA-binding protein production by DUX4-induced systemic inhibition of nonsense-mediated RNA decay
Amy E. Campbell, Michael C. Dyle, Roberto Albanese, Tyler Matheny, Kavitha Sudheendran, Michael A. Cortázar, Thomas E. Forman, Rui Fu, Austin E. Gillen, Marvin H. Caruthers, Stephen N. Floor, Lorenzo Calviello, Sujatha Jagannathan
The paper shows that inhibiting NMD in FSHD leads to widespread production of truncated RNA-binding proteins, some of which are toxic and can be detected in patient samples.
Cell Reports · Jun 1, 2023Peer-reviewedGenomics