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Article

Astrocytes, an active player in Aicardi-Goutières syndrome.

Brain pathology (Zurich, Switzerland) - 1 May 2018

Sase Sunetra, Takanohashi Asako, Vanderver Adeline, Almad Akshata

Abstract excerpt

Aicardi-Goutières syndrome (AGS) is an early-onset, autoimmune and genetically heterogeneous disorder with severe neurologic injury. Molecular studies have established that autosomal recessive mutations in one of the following genes are causative: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1 and IFIH1/MDA5. The phenotypic presentation and pathophysiology of AGS is associated with over-production of the...

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Source

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Identifiers

PMID: 29740948
DOI: 10.1111/bpa.12600
PMCID: PMC8028286

Genes

IFIH1
SAMHD1
TREX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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