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

doi:10.1038/s41467-026-69979-9

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Article

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

Nature communications - 3 Mar 2026

Batignes Maxime, Luka Marine, Jagtap Surabhi, de Cevins Camille, Nemazanyy Ivan, Leib Jacqueline, Fali Tinhinane, Pierga Alexandre, Zarhrate Mohammed, García-Paredes Víctor, Carbone Francesco, Pérot Brieuc P, Neven Bénédicte, Bader-Meunier Brigitte, Quartier Pierre, Hully Marie, Belot Alexandre, Lepelley Alice, Frémond Marie-Louise, Fischer Alain, Ménager Mickaël M

Abstract excerpt

Aicardi-Goutières syndrome (AGS) is a genetic type I interferon (IFN)-mediated disease characterized by neurological involvement with onset in utero or in childhood. Here, we analyze peripheral blood samples from patients bearing AGS-causing mutations in ADAR1, RNASEH2B or SAMHD1 using single-cell transcriptomics and targeted metabolomics. Using machine-learning approaches and differential gene expression...

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Identifiers

PMID: 41776196
DOI: 10.1038/s41467-026-69979-9
PMCID: PMC13066545

Genes

RNASEH2B
SAMHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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