M. Catarina Silva

The paper identifies 9,814 poison exons in the human genome, finds brain-specific splicing patterns, and links pathogenic variants to PE splicing affecting neurological disorders.

Discovery of SMCs that correct MAPT splicing, reduce 4R tau, and rescue pathology in patient-derived neuronal and in vivo models of 4R tauopathies.

This study shows that cholesterol dysregulation promotes tau aggregation in patient-derived neurons and demonstrates that tau degraders can block this effect.

The paper develops a scalable cortical organoid platform with quality control metrics and identifies early dysregulation of phosphatase and prefoldin genes in FTD-tau neurons.

The paper identifies small molecule inducers of miR-132 in human iPSC-derived neurons using HTS-HTS, showing neuroprotective effects against neurodegenerative phenotypes.

This study shows that reducing tau with a degrader prevents mitochondrial fragmentation and oxidative stress in ALS models.

This study shows that glutamatergic dysfunction occurs before neuron loss in cerebral organoids with MAPT mutations, suggesting therapeutic targets for FTD.

The paper identifies a Cdk5-derived peptide that inhibits Cdk5/p25 activity and reduces neurodegenerative phenotypes in cellular and animal models.