Luc Dupuis

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

This study identifies FUS's role in muscle differentiation and structure through phase separation-mediated recruitment of ETV5 and MEF2, showing its dysfunction in FUS-ALS.

This paper describes a conditional Dync1h1 mouse model to study dynein's role in neuronal growth and neurological disorders, finding accelerated growth and mild impairments in heterozygous animals.

This study shows that wild-type FUS rescues ALS-like disease caused by mutant FUS by activating an autoregulatory loop that reduces cytoplasmic mutant FUS levels.

The paper identifies NUP50 gene variants and reduced expression as risk factors for ALS through transcriptome-wide association and functional studies.

The paper identifies disrupted orbitofrontal-hypothalamic projections in hypermetabolic ALS mouse models and human patients, linking them to hypermetabolism.

This study shows that cytoplasmic FUS mislocalization in mice causes behavioral changes and inhibitory synaptic defects without widespread neuronal loss.

This study examines an SCA2 mouse model to identify molecular mechanisms of spinal cord pathology, finding progressive TDP43 aggregation and cholesterol biosynthesis suppression.

This study shows that synaptic accumulation of FUS in ALS-FUS mice leads to age-dependent misregulation of inhibitory synapses, suggesting a role in early neurodegeneration.