Connecting cilium, stress response, and proteostasis abnormalities inform variant and therapy assessment in RPGRIP1 retinal organoids
In this article, Jamieson and colleagues describe the first 3D retinal organoid model for RPGRIP1-associated inherited retinal disease (IRD) from patient-derived and genome-engineered iPSCs. Key biomarkers identified disturbed protein interactions at the photoreceptor connecting cilium. Bulk and single-cell transcriptomics revealed stress and retinal subpopulation signatures. Proteostasis abnormalities and other biomarkers and signatures distinguished the RPGRIP1 variant and therapy impact.
In this article, Jamieson and colleagues describe the first 3D retinal organoid model for RPGRIP1-associated inherited retinal disease (IRD) from patient-derived and genome-engineered iPSCs. Key biomarkers identified disturbed protein interactions at the photoreceptor connecting cilium. Bulk and single-cell transcriptomics revealed stress and retinal subpopulation signatures. Proteostasis abnormalities and other biomarkers and signatures distinguished the RPGRIP1 variant and therapy impact.
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