Roberto Albanese

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

This paper introduces CFC-seq and SALA to sequence non-poly(A) RNAs, identifies 39,425 novel transcriptional units, and reveals a genomic code governing enhancer RNA fate based on promoter architecture.

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.