Sonal Dalvi

This study uses a 3D iPSC retina model to show that acid ceramidase deficiency causes sphingolipid metabolism changes and photoreceptor degeneration in CLN3 disease, with therapeutic potential for rhAC.

This study investigates how CLN3 mutations impair phagocytosis and cause photoreceptor degeneration in CLN3 disease using patient-derived cells and a miniswine model.

This study shows that TIMP3 mutations in RPE cells increase glycolytic activity and disrupt glutamine metabolism, linking these changes to Sorsbys Fundus Dystrophy.