Article

Enhanced inflammatory signaling driven by metabolic switch in Aicardi-Goutières syndrome

2023-02-24

Abstract excerpt

<h4>Summary</h4> Aicardi-Goutières syndrome (AGS) is a genetic type I interferon (IFN)-mediated disease characterised by neurological involvement with onset in childhood. Chronic inflammation in response to uncontrolled type I IFN production is, among other things, associated with IP-10 secretion. We analysed, at the single-cell transcriptomic levels, peripheral blood samples from patients bearing AGS-causing mut...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9a7a1838-3e7c-511d-bcfe-e64544e45cdb
DOI: 10.1101/2023.02.23.529707

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Enhanced inflammatory signaling driven by metabolic switch in Aicardi-Goutières syndromeDOI 10.1101/2023.02.23.529707Read

Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome.Semantic proximity Read

Aicardi-Goutières Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond.Semantic proximity Read

HIF1α-glycolysis engages activation-induced cell death to drive IFN-γ induction in hypoxic T cellsSemantic proximity Read

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature ReviewSemantic proximity Read

The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.Semantic proximity Read

Altered DNA methylation and gene expression predict disease severity in patients with Aicardi-Goutières syndrome.Semantic proximity Read

Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.Semantic proximity Read

PNPT1 mutations may cause Aicardi-Goutières-Syndrome.Semantic proximity Read

Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release.Semantic proximity Read

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseSemantic proximity Read

A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.Semantic proximity Read

Interferon α and β induce differential transcriptional and functional metabolic phenotypes in human monocyte-derived macrophages and blunt glycolysis in response to antigenic stimuliSemantic proximity Read