Summary:

Name	Aicardi-Goutières syndrome (A:I)
Description	ADAR1 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 reaction	A:I
Found in RNA	mRNA
Modified Transcript	None
Mapping Technology	Sanger and exome sequencing
Quantification techniques	RT-PCR

Enzymes connected to Aicardi-Goutières syndrome:

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

Publications:

ID	Title	Authors	Journal	Details	PubMed Id	DOI
963	Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.	Paul R Kasher,Gabriella M A Forte,Niamh M Mannion,Sam M Greenwood,Marcin Szynkiewicz,Jonathan E Dickerson,Sanjeev S Bhaskar,Massimiliano Zampini,Tracy A Briggs,Emma M Jenkinson,Carlos A Bacino,Roberta Battini,Enrico Bertini,Paul A Brogan,Louise A Brueton,Marialuisa Carpanelli,Corinne De Laet,Pascale de Lonlay,Mireia del Toro,Isabelle Desguerre,Elisa Fazzi,Angels Garcia-Cazorla,Arvid Heiberg,Masakazu Kawaguchi,Ram Kumar,Jean-Pierre S-M Lin,Charles M Lourenco,Alison M Male,Wilson Marques,Cyril Mignot,Ivana Olivieri,Simona Orcesi,Prab Prabhakar,Magnhild Rasmussen,Robert A Robinson,Flore Rozenberg,Johanna L Schmidt,Katharina Steindl,Tiong Y Tan,William G van der Merwe,Adeline Vanderver,Grace Vassallo,Emma L Wakeling,Evangeline Wassmer,Elizabeth Whittaker,John H Livingston,Pierre Lebon,Tamio Suzuki,Paul J McLaughlin,Liam P Keegan,Mary A O'Connell,Simon C Lovell,	Nat Genet	[details]	23001123	10.1038/ng.2414