Luc Dupuis

CREB3 gain of function variants protect against ALS

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

FUS controls muscle differentiation and structure through LLPS mediated recruitment of MEF2 and ETV5

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.

A conditional null allele of Dync1h1 enables targeted analyses of dynein roles in neuronal length sensing and neurological disorders

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.

Wild-type FUS corrects ALS-like disease induced by cytoplasmic mutant FUS through autoregulation.

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.

Loss of nucleoporin Nup50 is a risk factor for amyotrophic lateral sclerosis

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

Orbitofrontal-hypothalamic projections are disrupted in hypermetabolic murine ALS model and human patients

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

Cytoplasmic accumulation of FUS triggers early behavioral alterations linked to cortical neuronal hyperactivity and defects in inhibitory synapses

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

Atxn2-CAG100-KnockIn mouse spinal cord shows progressive TDP43 pathology associated with cholesterol biosynthesis suppression

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

Synaptic accumulation of FUS triggers age-dependent misregulation of inhibitory synapses in ALS-FUS mice

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.