Otulipenia is characterized by abnormal inflammation throughout the body.
genetic conditions
References
Damgaard RB, Walker JA, Marco-Casanova P, Morgan NV, Titheradge HL, ElliottPR, McHale D, Maher ER, McKenzie ANJ, Komander D. The Deubiquitinase OTULIN Is anEssential Negative Regulator of Inflammation and Autoimmunity. Cell. 2016 Aug25;166(5):1215-1230.e20. doi: 10.1016/j.cell.2016.07.019.
Elliott PR, Komander D. Regulation of Met1-linked polyubiquitin signalling by the deubiquitinase OTULIN. FEBS J. 2016 Jan;283(1):39-53. doi:10.1111/febs.13547.
Keusekotten K, Elliott PR, Glockner L, Fiil BK, Damgaard RB, Kulathu Y, Wauer T, Hospenthal MK, Gyrd-Hansen M, Krappmann D, Hofmann K, Komander D. OTULINantagonizes LUBAC signaling by specifically hydrolyzing Met1-linkedpolyubiquitin. Cell. 2013 Jun 6;153(6):1312-26. doi: 10.1016/j.cell.2013.05.014.
Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, Kuehn HS, Wang H, YangD, Park YH, Ombrello AK, Blake M, Romeo T, Remmers EF, Chae JJ, Mullikin JC,Güzel F, Milner JD, Boehm M, Rosenzweig SD, Gadina M, Welch SB, Özen S, TopalogluR, Abinun M, Kastner DL, Aksentijevich I. Biallelic hypomorphic mutations in alinear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.Proc Natl Acad Sci U S A. 2016 Sep 6;113(36):10127-32. doi:10.1073/pnas.1612594113.
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