8 research outputs found
Heat and Life. The Development of the Theory of Animal Heat. By Everett Mendelsohn. Pp. x + 208. Harvard University Press; London: Oxford University Press, 1964. 36 s
No full text
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
No full textAicardi-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.Journal ArticleResearch Support, Non-U.S. Gov'tSCOPUS: ar.jinfo:eu-repo/semantics/publishe
