Article
Heterogeneity in the progression of retinal pathologies in mice harboring patient mimicking Impg2 mutations.
Human molecular genetics - 18 Feb 2024
Williams Brittany N, Draper Adam, Lang Patrick F, Lewis Tylor R, Smith Audrey L, Mayerl Steven J, Rougié Marie, Simon Jeremy M, Arshavsky Vadim Y, Greenwald Scott H, Gamm David M, Pinilla Isabel, Philpot Benjamin D
Abstract excerpt
Biallelic mutations in interphotoreceptor matrix proteoglycan 2 (IMPG2) in humans cause retinitis pigmentosa (RP) with early macular involvement, albeit the disease progression varies widely due to genetic heterogeneity and IMPG2 mutation type. There are currently no treatments for IMPG2-RP. To aid preclinical studies toward eventual treatments, there is a need to better understand the progression of disease...
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