Chantelle F. Sephton

This study develops RAPTOR-targeted ASOs to treat GATOR1-deficient diseases by reducing mTORC1 activity, improving neuronal function, and extending lifespan in models.

The paper identifies axon-specific mRNA translation in dopaminergic neurons and shows how it regulates axon development and connectivity.

This study examines the effects of HDAC inhibitors and arimoclomol on HSP expression and disease biomarkers in ALS models, finding variable responses across different ALS variants and biomarkers.

This study shows that antisense oligonucleotides can increase progranulin protein levels by blocking miR-29b binding in GRN mRNA, offering a potential therapy for FTD.

This study investigates miRNA biogenesis defects in HD brain tissue, finding downregulation of key enzymes and maturation defects, primarily in the striatum.

This study investigates how chronic stress affects male and female mice's cortico-accumbal and cortico-tegmental pathways, revealing sex-specific functional, morphological, and transcriptional changes.