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Article

Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.

Human molecular genetics - 3 Sept 2024

Shim Abraham, Luan Xiaohan, Zhou Wen, Crow Yanick J, Maciejowski John

Abstract excerpt

The cGAS-STING pathway detects cytosolic DNA and activates a signaling cascade that results in a type I interferon (IFN) response. The endoplasmic reticulum (ER)-associated exonuclease TREX1 suppresses cGAS-STING by eliminating DNA from the cytosol. Mutations that compromise TREX1 function are linked to autoinflammatory disorders, including systemic lupus erythematosus (SLE) and Aicardi-Goutières syndrome (AGS)....

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PMID: 38796715
DOI: 10.1093/hmg/ddae089
PMCID: PMC11373327

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