A 3D iPSC retina model reveals non-cell-autonomous and non-neuronal mechanism of photoreceptor degeneration in a lysosomal storage disorder.
Jimin Han, Nathaniel Foley, Sonal Dalvi, Janet A. H. Tang, Amit Chatterjee, Lal Krishan Kumar, Chad A. Galloway, Kumar Singh, Yashoda Subedi, Kevin Ling, Alison M. Heffer, Richard T. Libby, Danielle S. W. Benoit, Anthony L. Cook, Vera Bonilha, , Ruchira Singh
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.
bioRxiv · Jul 10, 2025 · PreprintNeuroscience