Sujatha Jagannathan

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

The paper develops a model to predict NMD outcomes for protein-truncating variants using RNA-seq data, achieving ~78% ROC-AUC and identifying non-canonical determinants.

The paper shows ASXL3 truncating variants cause disease via gain-of-function, not loss-of-function, and demonstrates antisense oligonucleotides can reverse the transcriptional effects.

The paper quantitatively analyzes NMD activity for various PTCs in the LMNA gene, revealing new positional and sequence context dependencies beyond existing binary rules.

This study identifies NMD-escape variants as a distinct class of disease-causing mutations, showing that altered C-terminal regions drive pathogenicity through phase separation.

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.

The paper quantifies proteomic changes in DUX4-expressing cells, revealing post-transcriptional dysregulation in FSHD pathology.

The paper shows common nonsense genetic variants are tolerated due to translational plasticity mechanisms that preserve protein function.