Zachary F. Caffall

The paper introduces a transgenic mouse line, DIO-SPOTlight, to monitor ISR-regulated protein synthesis in specific cell types across the CNS and other organ systems.

This study uses subcellular proteomics to show that DYT-TOR1A mutant cells have greater nuclear proteome disruption under stress compared to other conditions.

The paper analyzes rare variants in dystonia genes in population controls and sporadic dystonia patients to assess their clinical relevance.