Article
Human retinal organoids harboring IMPG2 mutations exhibit a photoreceptor outer segment phenotype that models advanced retinitis pigmentosa.
Stem cell reports - 8 Nov 2022
Mayerl Steven J, Bajgai Simona, Ludwig Allison L, Jager Lindsey D, Williams Brittany N, Bacig Cole, Stoddard Christopher, Sinha Divya, Philpot Benjamin D, Gamm David M
Abstract excerpt
Interphotoreceptor matrix proteoglycan 2 (IMPG2) mutations cause a severe form of early-onset retinitis pigmentosa (RP) with macular involvement. IMPG2 is expressed by photoreceptors and incorporated into the matrix that surrounds the inner and outer segments (OS) of rods and cones, but the mechanism of IMPG2-RP remains unclear. Loss of Impg2 function in mice produces a mild, late-onset photoreceptor phenotype...
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