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• W2300908791 endingPage "e0151806" @default.
• W2300908791 startingPage "e0151806" @default.
• W2300908791 abstract "Inherited retinal disorders (IRDs) result in severe visual impairments in children and adults. A challenge in the field of retinal degenerations is identifying mechanisms of photoreceptor cell death related to specific genetic mutations. Mutations in the gene TULP1 have been associated with two forms of IRDs, early-onset retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA). TULP1 is a cytoplasmic, membrane-associated protein shown to be involved in transportation of newly synthesized proteins destined for the outer segment compartment of photoreceptor cells; however, how mutant TULP1 causes cell death is not understood. In this study, we provide evidence that common missense mutations in TULP1 express as misfolded protein products that accumulate within the endoplasmic reticulum (ER) causing prolonged ER stress. In an effort to maintain protein homeostasis, photoreceptor cells then activate the unfolded protein response (UPR) complex. Our results indicate that the two major apoptotic arms of the UPR pathway, PERK and IRE1, are activated. Additionally, we show that retinas expressing mutant TULP1 significantly upregulate the expression of CHOP, a UPR signaling protein promoting apoptosis, and undergo photoreceptor cell death. Our study demonstrates that the ER-UPR, a known mechanism of apoptosis secondary to an overwhelming accumulation of misfolded protein, is involved in photoreceptor degeneration caused by missense mutations in TULP1. These observations suggest that modulating the UPR pathways might be a strategy for therapeutic intervention." @default.
• W2300908791 created "2016-06-24" @default.
• W2300908791 creator A5036830424 @default.
• W2300908791 creator A5057084678 @default.
• W2300908791 creator A5088294618 @default.
• W2300908791 creator A5088304166 @default.
• W2300908791 date "2016-03-17" @default.
• W2300908791 modified "2023-10-11" @default.
• W2300908791 title "Involvement of Endoplasmic Reticulum Stress in TULP1 Induced Retinal Degeneration" @default.
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• W2300908791 doi "https://doi.org/10.1371/journal.pone.0151806" @default.
• W2300908791 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4795779" @default.
• W2300908791 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26987071" @default.
• W2300908791 hasPublicationYear "2016" @default.
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