Article
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Nature genetics - 1 Nov 2012
Rice Gillian I, Kasher Paul R, Forte Gabriella M A, Mannion Niamh M, Greenwood Sam M, Szynkiewicz Marcin, Dickerson Jonathan E, Bhaskar Sanjeev S, Zampini Massimiliano, Briggs Tracy A, Jenkinson Emma M, Bacino Carlos A, Battini Roberta, Bertini Enrico, Brogan Paul A, Brueton Louise A, Carpanelli Marialuisa, De Laet Corinne, de Lonlay Pascale, del Toro Mireia, Desguerre Isabelle, Fazzi Elisa, Garcia-Cazorla Angels, Heiberg Arvid, Kawaguchi Masakazu, Kumar Ram, Lin Jean-Pierre S-M, Lourenco Charles M, Male Alison M, Marques Wilson, Mignot Cyril, Olivieri Ivana, Orcesi Simona, Prabhakar Prab, Rasmussen Magnhild, Robinson Robert A, Rozenberg Flore, Schmidt Johanna L, Steindl Katharina, Tan Tiong Y, van der Merwe William G, Vanderver Adeline, Vassallo Grace, Wakeling Emma L, Wassmer Evangeline, Whittaker Elizabeth, Livingston John H, Lebon Pierre, Suzuki Tamio, McLaughlin Paul J, Keegan Liam P, O'Connell Mary A, Lovell Simon C, Crow Yanick J
Abstract excerpt
Adenosine deaminases acting on RNA (ADARs) catalyze the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) and thereby potentially alter the information content and structure of cellular RNAs. Notably, although the overwhelming majority of such editing events occur in transcripts derived from Alu repeat elements, the biological function of non-coding RNA editing remains uncertain. Here,...
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