NeurosciencebioRxivPreprint
Modeling and targeting haploinsufficiency in SHINE syndrome
Dania Abdellatif, Mustafa Obeid, Rami I. Aqeilan
This study models DLG4 mutations in SHINE syndrome using iPSC-derived neurons, showing PSD-95 deficiency and electrophysiological changes, and demonstrates rescue via AAV9-mediated gene delivery.
DOI 10.64898/2026.08.07.743528