Rebecca San Gil

The paper identifies early synaptic vesicle cycle disruption in ALS using proteomics and shows it is reversible with TDP-43 suppression.

This paper maps mutation-defined cancer vulnerabilities across 22 cohorts, identifying OXPHOS addiction in CDKN2A-loss LUSC and highlighting drug repurposing opportunities using a machine learning framework.

This study identifies persistent extra-motor behavioural deficits in rNLS8 TDP-43 mice, linked to synaptic gene expression and splicing changes that persist even after motor recovery.

This study identifies a transient protein folding response in early TDP-43 disease that reduces aggregation, with DNAJB5 as a protective factor, and shows proteomic similarities between mouse and human TDP-43 proteinopathies.

This study identifies early activation of stress and apoptotic pathways in a mouse model of ALS/FTD and shows that suppressing Chop has limited effects on disease progression.

This study investigates how RNA-binding deficiency and post-translational modifications of TDP-43 lead to its sequestration and depletion, contributing to neurodegeneration in ALS and FTD.

This study shows riluzole does not improve disease outcomes in a mouse model of ALS with cytoplasmic TDP-43 pathology.