Rui Sousa‐Luís

This study identifies MBLAC2 as a nucleolar nuclease essential for co-transcriptional rRNA processing and global transcriptional output.

The paper shows mammalian RNA polymerase II can terminate transcription at T-tracts, a mechanism also seen in prokaryotes and RNAPIII, and demonstrates this occurs genome-wide in promoter-proximal regions.

This study shows XCI erosion in female hiPSCs is common, heterogeneous, and persists during differentiation, affecting X-linked gene expression without altering DNA methylation levels.

The paper shows that combining an ASO with HDAC inhibitors enhances SMN2 exon 7 inclusion in SMA mice, improving SMN expression and function.

The paper introduces POINT technology to study co-transcriptional RNA processing, revealing insights into splicing kinetics, Xrn2 exonuclease specificity, and transcript termination mechanisms.