Jose Norberto S. Vargas

This study identifies TDP-43 dysfunction as a cause of cryptic circular RNA formation in ALS/FTD, showing their association with disease-relevant protein loss and potential as biomarkers.

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

The paper shows TBK1 phosphorylates Rab7 to regulate unidirectional retrograde transport of signalling endosomes in motor neurons, linking TBK1 dysfunction to ALS-related transport impairments.

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.