Publication: Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
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Rice, G. I., Kasher, P. R., Forte, G. M. A., Mannion, N. M., Greenwood, S. M., Szynkiewicz, M., Dickerson, J. E., Bhaskar, S. S., Zampini, M., Briggs, T. A., Jenkinson, E. M., Bacino, C. A., Battini, R., Bertini, E., Brogan, P. A., Brueton, L. A., Carpanelli, M., De Laet, C., de Lonlay, P., … Crow, Y. J. (2012). Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nature Genetics, 44(11), 1243–1248. https://doi.org/10.1038/ng.2414
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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, we show that mutations in ADAR1 (also known as ADAR) cause the autoimmune disorder Aicardi-Goutières syndrome (AGS). As in
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Creators (Authors)
- 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 Jr, Wilson
- Mignot, Cyril
- Olivieri, Ivana
- Orcesi, Simona
- Prabhakar, Prab
- Rasmussen, Magnhild
- Robinson, Robert A
- Rozenberg, Flore
- Schmidt, Johanna L
- 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
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Rice, G. I., Kasher, P. R., Forte, G. M. A., Mannion, N. M., Greenwood, S. M., Szynkiewicz, M., Dickerson, J. E., Bhaskar, S. S., Zampini, M., Briggs, T. A., Jenkinson, E. M., Bacino, C. A., Battini, R., Bertini, E., Brogan, P. A., Brueton, L. A., Carpanelli, M., De Laet, C., de Lonlay, P., … Crow, Y. J. (2012). Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nature Genetics, 44(11), 1243–1248. https://doi.org/10.1038/ng.2414
