Article

Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT

2022-03-08

Abstract excerpt

The recognition that cytosolic mtDNA activates cGAS-STING innate immune signaling has unlocked novel disease mechanisms. Here, an uncharacterized variant predicted to affect TOP1MT function, P193L, was discovered in a family with multiple early-onset autoimmune diseases, including Systemic Lupus Erythematosus (SLE). Although there was no previous genetic association between TOP1MT and autoimmune disease, the role...

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Literature Corpus work: a2e52a02-360d-530c-9c1e-32b61c73a314
DOI: 10.1101/2022.03.08.483326

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