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Bodemer, Christine; Vanderver, Adeline; Bertini, Enrico; Hamel, Ben C J; van der Knaap, Marjo S; Heiberg, Arvid; Orcesi, Simona; Tan, Tiong Y; Lagae, Lieven; Manfield, Iain W; Whittaker, Elizabeth; Lamb, Teresa; Gornall, Hannah; Cazorla, Angels Garcia; Rice, Gillian I; Hunter, Matthew; Shalev, Stavit A; Marom, Daphna; Rasmussen, Magnhild; Desguerre, Isabelle; Crow, Yanick J; Lourenco, Charles M; Bonthron, David T; Ali, Manir; Fuller, Jonathan C; Soler, Doriette M; Bond, Jacquelyn; Jackson, Richard M; Couthard, Lydia R; Wakeling, Emma L; Gener, Blanca; Brockmann, Knut; Landrieu, Pierre G; Fazzi, Elisa; Carr, Ian M; van der Merwe, William; Shinawi, Marwan; Kumar, Ram; Spiegel, Ronen; Briggs, Tracy A; Attard-Montalto, Simon P; Asipu, Aruna; Brueton, Louise A; Wassmer, Evangeline; Brunette, Rebecca L; Lebon, Pierre; Stetson, Daniel B; McDermott, Michael F; Aeby, Alec; Corry, Peter C; Prendiville, Julie S
Nature genetics, 07/2009, Letnik: 41, Številka: 7Journal Article
Aicardi-Goutières 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 genes encoding the RNASEH2 complex and studies of the function of TREX1 in DNA metabolism have defined a previously unknown mechanism for the initiation of autoimmunity by interferon-stimulatory nucleic acid. Here we describe mutations in SAMHD1 as the cause of AGS at the AGS5 locus and present data to show that SAMHD1 may act as a negative regulator of the cell-intrinsic antiviral response.
