Steven Q. Le

The paper shows that reducing heparan sulfate in cerebrospinal fluid reflects brain neuron correction in Sanfilippo B mice through targeted enzyme delivery.

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.

This study uses genome-engineered cells with IDS mutations to identify subtle lysosomal and membrane phenotypes that correlate with genetic variants in the IDS gene, improving the assessment of variant pathogenicity.

This study genetically corrects iPSC-derived neural stem cells to deliver a modified NAGLU enzyme, reducing disease pathology in Sanfilippo B mice.

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