| 1 | AGS5, SAMDH1 |
| Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 protein. | |
| Hrecka K, Hao C, Gierszewska M, Swanson SK, Kesik-Brodacka M, Srivastava S, Florens L, Washburn MP, Skowronski J. | |
| Nature 474(7353):658-61. doi: 10.1038/nature10195. 2011 | |
| 2 | AGS5, SAMDH1 |
| Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations. | |
| du Moulin M, Nürnberg P, Crow YJ, Rutsch F. | |
| Proc Natl Acad Sci U S A 108(26):E232; author reply E233. Epub 2011 Jun 1. No abstract available. 2011 | |
| 3 | AGS5, SAMHD1 |
| A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions. | |
| Leshinsky-Silver E, Malinger G, Ben-Sira L, Kidron D, Cohen S, Inbar S, Bezaleli T, Levine A, Vinkler C, Lev D, Lerman-Sagie T. | |
| Eur J Hum Genet 19(3):287-92. Epub 2010 Nov 24. 2011 | |
| 4 | AGS5, SAMHD1 |
| Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. | |
| Dale RC, Gornall H, Singh-Grewal D, Alcausin M, Rice GI, Crow YJ. | |
| Am J Med Genet A 152A(4):938-42.PMID: 20358604 2010 | |
| 5 | AGS5, SAMHD1 |
| Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. | |
| Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. | |
| Nat Genet 41(7):829-32. Epub 2009 Jun 14. 2009 | |