Nicolas Marotta

This study investigates how pathogenic KIF1A variants affect axonal trafficking and synaptic development in human neurons using gene-edited iPSCs.

The paper develops humanized mouse models for SYNGAP1 and STXBP1 disorders, showing similar electrophysiological and behavioral abnormalities in mice and patients, and demonstrates the efficacy of antisense oligonucleotides in modulating SYNGAP1 expression.

This paper demonstrates that CRISPR-mediated transcriptional activation can upregulate SYNGAP1 in a mouse model of SRID and human neurons, rescuing deficits without targeting mutations.