3 Result(s)
within
Ruchira Singh
Life Sciences
-
Article
Open AccessA human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface
Mutations in CLN3 lead to photoreceptor cell loss in CLN3 disease, a lysosomal storage disorder characterized by childhood-onset vision loss, neurological impairment, and premature death. However, how CLN3 mutati...
-
Article
Open AccessEnvironmental stress impairs photoreceptor outer segment (POS) phagocytosis and degradation and induces autofluorescent material accumulation in hiPSC-RPE cells
Retinal pigment epithelium (RPE) cell dysfunction is central to the pathogenesis of age-related macular degeneration (AMD), a leading cause of adult blindness. Aging, the single biggest risk factor for AMD dev...
-
Chapter
Pluripotent Stem Cells to Model Degenerative Retinal Diseases: The RPE Perspective
Pluripotent stem cell technology, including human-induced pluripotent stem cells (hiPSCs) and human embryonic stem cells (hESCs), has provided a suitable platform to investigate molecular and pathological alte...
