Article

Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A

2021-04-03

Abstract excerpt

Mitochondrial DNA (mtDNA) has been suggested to drive immune system activation, but the induction of interferon signaling by mtDNA has not been demonstrated in a Mendelian mitochondrial disease. We initially ascertained two patients, one with a purely neurological phenotype, and one with features suggestive of systemic sclerosis in a syndromic context, and found them both to demonstrate enhanced interferon-stimula...

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Literature Corpus work: 3102dfd8-bcef-59b0-98d5-c4045838afd2
DOI: 10.1101/2021.04.02.438201

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