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

doi:10.1084/jem.20201560

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Article

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

The Journal of experimental medicine - 4 Oct 2021

Lepelley Alice, Della Mina Erika, Van Nieuwenhove Erika, Waumans Lise, Fraitag Sylvie, Rice Gillian I, Dhir Ashish, Frémond Marie-Louise, Rodero Mathieu P, Seabra Luis, Carter Edwin, Bodemer Christine, Buhas Daniela, Callewaert Bert, de Lonlay Pascale, De Somer Lien, Dyment David A, Faes Fran, Grove Lucy, Holden Simon, Hully Marie, Kurian Manju A, McMillan Hugh J, Suetens Kristin, Tyynismaa Henna, Chhun Stéphanie, Wai Timothy, Wouters Carine, Bader-Meunier Brigitte, Crow Yanick J

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...

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Identifiers

PMID: 34387651
DOI: 10.1084/jem.20201560
PMCID: PMC8374862

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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