Sam Bryce-Smith

This study shows BDNF enhances axonal regeneration in human motor neurons by regulating RNA metabolism and cytoskeletal dynamics through kinase pathways.

The paper identifies cryptic splicing events (CEs) sensitive to TDP-43 loss and develops a composite score to detect TDP-43 pathology across tissues.

The paper identifies novel cryptic polyadenylation events induced by TDP-43 loss in ALS/FTD using bioinformatic methods and shows their potential disease relevance and impact on protein translation.

The paper identifies widespread 3' UTR splicing in cancer, showing it regulates oncogene expression through NMD-dependent and -independent mechanisms, with specific examples in colon cancer.

The paper benchmarks eight tools for identifying and quantifying alternative polyadenylation sites from RNA-seq data using real, synthetic, and 3'-end sequencing data.

The paper shows that ALS/FTD risk variants in UNC13A increase sensitivity to TDP-43 depletion by promoting cryptic exon inclusion and protein loss.