Genetic and cellular basis of impaired phagocytosis and photoreceptor degeneration in CLN3 disease.
J. Han, S. Chear, J. Talbot, V. J. Swier, C. Booth, C. I. Reuben-Thomas, S. Dalvi, J. M. Weimer, A. W. Hewitt, A. L. Cook, R. Singh
This study investigates how CLN3 mutations impair phagocytosis and cause photoreceptor degeneration in CLN3 disease using patient-derived cells and a miniswine model.
bioRxiv · Jun 9, 2024Cell Biology