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Single-stranded nucleic acids promote SAMHD1 complex formation
(Springer, 2013-06)
SAM domain and HD domain-containing protein 1 (SAMHD1) is a dGTP-dependent triphosphohydrolase that degrades deoxyribonucleoside triphosphates (dNTPs) thereby limiting the intracellular dNTP pool. Mutations in SAMHD1 ...
A Field Guide To Current Advances In Paediatric Movement Disorders
(LIPPINCOTT WILLIAMS & WILKINSPHILADELPHIA, 2015)
Clinical and molecular phenotype of Aicardi-Goutières syndrome
(2007-10-24)
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 identified in genes encoding the 3′→5′ ...
Clinical and molecular phenotype of Aicardi-Goutières syndrome
(2007-10-24)
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 identified in genes encoding the 3′→5′ ...
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response
(NATURE PUBLISHING GROUP, 2009)
Aicardi-Goutieres syndrome is a mendelian mimic of congenital infection and also shows overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent identification of mutations in TREX1 and ...
Defective removal of ribonucleotides from DNA promotes systemic autoimmunity
(American Society for Clinical Investigation, 2015-01)
Genome integrity is continuously challenged by the DNA damage that arises during normal cell metabolism. Biallelic mutations in the genes encoding the genome surveillance enzyme ribonuclease H2 (RNase H2) cause Aicardi-Goutières ...
Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature
(NATURE PUBLISHING GROUPNEW YORK, 2012)
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. ...