Article
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
Nature genetics - 1 Aug 2006
Crow Yanick J, Hayward Bruce E, Parmar Rekha, Robins Peter, Leitch Andrea, Ali Manir, Black Deborah N, van Bokhoven Hans, Brunner Han G, Hamel Ben C, Corry Peter C, Cowan Frances M, Frints Suzanne G, Klepper Joerg, Livingston John H, Lynch Sally Ann, Massey Roger F, Meritet Jean François, Michaud Jacques L, Ponsot Gerard, Voit Thomas, Lebon Pierre, Bonthron David T, Jackson Andrew P, Barnes Deborah E, Lindahl Tomas
Abstract excerpt
Aicardi-Goutières syndrome (AGS) presents as a severe neurological brain disease and is a genetic mimic of the sequelae of transplacentally acquired viral infection. Evidence exists for a perturbation of innate immunity as a primary pathogenic event in the disease phenotype. Here, we show that TREX1, encoding the major mammalian 3' --> 5' DNA exonuclease, is the AGS1 gene, and AGS-causing mutations result in...
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