Amy E. Campbell

R2T2P integrates transcriptomics and proteomics data to study FSHD, revealing novel RNAs and their impact on translation and protein levels.

This paper identifies ASOs that correct cryptic exon inclusion in SDCCAG8, restoring protein expression in BBS patients.

The paper identifies the amino acid preceding a premature termination codon as a key determinant of nonsense-mediated mRNA decay efficiency.

The paper introduces a reporter system to compare EJC-independent and EJC-enhanced NMD, showing differences in RNA and protein levels and varying readthrough responses to inhibitors.

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.

This study shows DUX4 and mouse Dux interact with STAT1 and inhibit IFN-gamma-induced ISG expression by reducing STAT1 and Pol-II recruitment.

This study identifies DUX4-induced bidirectional HSATII satellite repeat transcripts that form intranuclear dsRNA foci contributing to FSHD toxicity.