Adenosine deaminases acting on RNA (ADARs) catalyze the hydrolytic deamination of
adenosine to inosine in double-stranded RNA (dsRNA) and thereby potentially alter the …

Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical
and immunological features of which parallel those of congenital viral infection. Here we …

… Ponting and E. Morrison for helpful discussions and R. Smith for technical support in
preparing images. … Elisa Fazzi & Simona Orcesi … Elisa Fazzi …

Introduction Aicardi–Goutières syndrome (AGS) is an autosomal recessive encephalopathy
characterized by acquired microcephaly, cerebral calcifications, leukodystrophy, cerebral …

The type I interferon system is integral to human antiviral immunity. However, inappropriate
stimulation or defective negative regulation of this system can lead to inflammatory disease. …

Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any
of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on …

… RNA blot analysis of whole mouse embryo showed roughly equal expression at
embryonic day (E)7–E17. Cep290 was expressed in multiple organs during early postnatal …

Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic
those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations …

Background Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by
mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and …

… vision in newborns and infancy and those with or without early signs of other disabilities,
particularly CP and cognitive disability.55, 56, 57, 58 Most recently, the group from Fazzi at …