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PSMB8

Sunday 10 April 2016

Open references

- Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. Brehm A, Liu Y, Sheikh A et al. J Clin Invest. 2015 Nov 2;125(11):4196-211. doi : 10.1172/JCI81260 PMID: 26524591 Free

- Genetics of proteasome diseases. Gomes AV. Scientifica (Cairo). 2013;2013:637629. doi : 10.1155/2013/637629 PMID: 24490108 Free

- Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S, Kim PW, Sheikh A, Lee CC, Chen Y, Vera A, Zhang X, Goldbach-Mansky R, Zlotogorski A. Arthritis Rheum. 2012 Mar;64(3):895-907. doi : 10.1002/art.33368 PMID: 21953331 Free