Genetic Dissection of Autoinflammatory Syndrome
Reference38 articles.
1. Agarwal AK, Xing C, DeMartino GN, Mizrachi D, Hernandez MD, Sousa AB et al (2010) PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet 87(6):866–872. doi: 10.1016/j.ajhg.2010.10.031 ; PubMed PMID: 21129723, PubMed Central PMCID: PMC2997366, Epub 2010/12/07 2. Akiyama K, Yokota K, Kagawa S, Shimbara N, Tamura T, Akioka H et al (1994) cDNA cloning and interferon gamma down-regulation of proteasomal subunits X and Y. Science 265(5176):1231–1234; Epub 1994/08/26 3. Aksentijevich I, Kastner DL (2011) Genetics of monogenic autoinflammatory diseases: past successes, future challenges. Nat Rev Rheumatol 7(8):469–478. doi: 10.1038/nrrheum.2011.94 ; Epub 2011/07/06 4. Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T et al (2011) Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci U S A 108(36):14914–14919. doi: 10.1073/pnas.1106015108 ; PubMed PMID: 21852578, PubMed Central PMCID: PMC3169106, Epub 2011/08/20 5. Basler M, Dajee M, Moll C, Groettrup M, Kirk CJ (2010) Prevention of experimental colitis by a selective inhibitor of the immunoproteasome. J Immunol 185(1):634–641. doi: 10.4049/jimmunol.0903182 ; Epub 2010/06/08
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