Christine Marques

The paper identifies a protective variant CREB3R119G that reduces ALS risk and progression by modulating CREB3 activity in vulnerable neurons.

This study identifies GSDME as a mediator of mitochondrial damage and axon loss in neurodegenerative diseases, showing its role in ALS and FTD models.

The paper shows iPSC-derived spinal motor neurons with familial ALS mutations capture gene expression changes seen in postmortem sporadic ALS motor neurons, particularly in TDP-43-related splicing dysregulation.

The paper identifies early RNA metabolism and splicing alterations in corticospinal neurons in an ALS mouse model, suggesting shared mechanisms across ALS-related genes.