Mark S. Sands

Enteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in mice

This paper shows that CLN3 disease causes enteric nervous system degeneration in humans and mice, which can be prevented by neonatal gene therapy in mice.

Chronic oral cannabidiol delays or prevents seizures in a mouse model of CLN2 disease

This study shows that chronic cannabidiol treatment delays or prevents seizures in a mouse model of CLN2 disease without affecting traditional neuroimmune markers.

GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice

This study investigates the role of GABAergic interneurons in seizure progression and mortality in CLN2 disease mice, finding that interneuron dysfunction contributes to epileptic seizures and death.

Haploinsufficiency of lysosomal enzyme genes in Alzheimers disease

This study identifies heterozygous lysosomal enzyme gene mutations as risk factors for Alzheimer's disease and validates their impact on amyloid-beta processing using mouse models.

Bowel dysmotility and enteric neuron degeneration in lysosomal storage disease mice is prevented by gene therapy

This paper shows gene therapy prevents bowel motility issues and enteric neuron loss in mouse models of lysosomal storage diseases.

Effects of chronic cannabidiol in a mouse model of naturally occurring neuroinflammation, neurodegeneration, and spontaneous seizures

This study examines the effects of chronic CBD in a mouse model of neuroinflammation, neurodegeneration, and seizures, finding reduced astrocytosis and microgliosis but no impact on seizures or neuron survival.

Cortical interneuron loss and seizure generation as novel clinically relevant disease phenotypes in Cln2R207X mice

This study identifies novel disease phenotypes in Cln2R207X mice, including cortical interneuron loss and seizure generation, providing insights into CLN2 disease pathogenesis.

Recombinant NAGLU-IGF2 prevents physical and neurological disease and improves survival in Sanfilippo B syndrome

This study shows that rhNAGLU-IGF2 treatment improves disease markers, behavior, and survival in Sanfilippo B mice and dogs.

Cell type specific profiling of alternative translation identifies novel protein isoforms in the mouse brain