Modomics - A Database of RNA Modifications


NameAicardi-Goutières syndrome (A:I)
DescriptionADAR1 acts as a suppressor of type I interferon signaling and may have a role in the cytoplasmic accumulation of dsRNA originating from genomic repetitive elements.
Related RNA reactionA:I
Found in RNAmRNA
Modified TranscriptNone
Mapping TechnologySanger and exome sequencing
Quantification techniquesRT-PCR

Enzymes connected to Aicardi-Goutières syndrome:

Acronym Full name Enzyme Role Organism Comment
ADARB1 Double-stranded RNA-specific editase 1 None Homo sapiens


ID Title Authors Journal Details PubMed Id DOI
963 Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Gillian I Rice Nat Genet [details] 23001123 10.1038/ng.2414