Article
A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor-RPE interface.
Communications biology - 5 Feb 2021
Tang Cynthia, Han Jimin, Dalvi Sonal, Manian Kannan, Winschel Lauren, Volland Stefanie, Soto Celia A, Galloway Chad A, Spencer Whitney, Roll Michael, Milliner Caroline, Bonilha Vera L, Johnson Tyler B, Latchney Lisa, Weimer Jill M, Augustine Erika F, Mink Jonathan W, Gullapalli Vamsi K, Chung Mina, Williams David S, Singh Ruchira
Abstract excerpt
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 mutations cause photoreceptor cell death is not known. Here, we show that CLN3 is required for phagocytosis of photoreceptor outer segment (POS) by retinal pigment epithelium (RPE) cells, a cellular process...
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