Open access
Jul 2026
A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.
A mouse model of SHINE syndrome carrying the patient-derived DLG4V692Wfs*12/+ variant associated with a severe form of the disorder is developed and characterized, establishing Dlg4V692Wfs*12/+ mice as a robust and translationally relevant model that reproduces key molecular and behavioral features of SHINE syndrome.
Sharon Tamir, Jiffin Paulose, A. Nguyen et al.
· Human Molecular Genetics · 0 citations