Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 95

1.

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.

Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, Kuehn HS, Wang H, Yang D, 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, Topaloglu R, Abinun M, Kastner DL, Aksentijevich I.

Proc Natl Acad Sci U S A. 2016 Sep 6;113(36):10127-32. doi: 10.1073/pnas.1612594113. Epub 2016 Aug 24.

2.

NF-κB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases.

Aksentijevich I, Zhou Q.

Front Immunol. 2017 Apr 19;8:399. doi: 10.3389/fimmu.2017.00399. eCollection 2017. Review.

3.

Suppression of LUBAC-mediated linear ubiquitination by a specific interaction between LUBAC and the deubiquitinases CYLD and OTULIN.

Takiuchi T, Nakagawa T, Tamiya H, Fujita H, Sasaki Y, Saeki Y, Takeda H, Sawasaki T, Buchberger A, Kimura T, Iwai K.

Genes Cells. 2014 Mar;19(3):254-72. doi: 10.1111/gtc.12128. Epub 2014 Jan 26.

4.

Targeted genomic analysis reveals widespread autoimmune disease association with regulatory variants in the TNF superfamily cytokine signalling network.

Richard AC, Peters JE, Lee JC, Vahedi G, Schäffer AA, Siegel RM, Lyons PA, Smith KG.

Genome Med. 2016 Jul 19;8(1):76. doi: 10.1186/s13073-016-0329-5.

5.

Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders.

Jéru I, Cochet E, Duquesnoy P, Hentgen V, Copin B, Mitjavila-Garcia MT, Sheykholeslami S, Le Borgne G, Dastot-Le Moal F, Malan V, Karabina S, Mahevas M, Chantot-Bastaraud S, Lecron JC, Faivre L, Amselem S.

Arthritis Rheumatol. 2014 Sep;66(9):2621-7. doi: 10.1002/art.38727.

6.

In vitro analysis of the functional effects of an NLRP3 G809S variant with the co-existence of MEFV haplotype variants in atypical autoinflammatory syndrome.

Kubota K, Ohnishi H, Teramoto T, Matsui E, Murase K, Kanoh H, Kato Z, Kaneko H, Seishima M, Kondo N.

J Clin Immunol. 2013 Feb;33(2):325-34. doi: 10.1007/s10875-012-9805-x. Epub 2012 Sep 27.

PMID:
23015306
7.

USP18 negatively regulates NF-κB signaling by targeting TAK1 and NEMO for deubiquitination through distinct mechanisms.

Yang Z, Xian H, Hu J, Tian S, Qin Y, Wang RF, Cui J.

Sci Rep. 2015 Aug 4;5:12738. doi: 10.1038/srep12738.

8.

A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil.

Jesus AA, Osman M, Silva CA, Kim PW, Pham TH, Gadina M, Yang B, Bertola DR, Carneiro-Sampaio M, Ferguson PJ, Renshaw BR, Schooley K, Brown M, Al-Dosari A, Al-Alami J, Sims JE, Goldbach-Mansky R, El-Shanti H.

Arthritis Rheum. 2011 Dec;63(12):4007-17. doi: 10.1002/art.30588.

9.

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.

Damgaard RB, Walker JA, Marco-Casanova P, Morgan NV, Titheradge HL, Elliott PR, McHale D, Maher ER, McKenzie ANJ, Komander D.

Cell. 2016 Aug 25;166(5):1215-1230.e20. doi: 10.1016/j.cell.2016.07.019. Epub 2016 Aug 11.

10.

The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation.

Manthiram K, Zhou Q, Aksentijevich I, Kastner DL.

Nat Immunol. 2017 Jul 19;18(8):832-842. doi: 10.1038/ni.3777. Review. Erratum in: Nat Immunol. 2017 Oct 18;18(11):1271.

PMID:
28722725
11.

An Update on Autoinflammatory Diseases: Relopathies.

Steiner A, Harapas CR, Masters SL, Davidson S.

Curr Rheumatol Rep. 2018 May 30;20(7):39. doi: 10.1007/s11926-018-0749-x. Review.

PMID:
29846841
12.

Regulation of Met1-linked polyubiquitin signalling by the deubiquitinase OTULIN.

Elliott PR, Komander D.

FEBS J. 2016 Jan;283(1):39-53. doi: 10.1111/febs.13547. Epub 2015 Nov 2. Review.

13.

The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway.

Greco E, Aita A, Galozzi P, Gava A, Sfriso P, Negm OH, Tighe P, Caso F, Navaglia F, Dazzo E, De Bortoli M, Rampazzo A, Obici L, Donadei S, Merlini G, Plebani M, Todd I, Basso D, Punzi L.

Arthritis Res Ther. 2015 Apr 3;17:93. doi: 10.1186/s13075-015-0604-7.

14.

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.

Stoffels M, Szperl A, Simon A, Netea MG, Plantinga TS, van Deuren M, Kamphuis S, Lachmann HJ, Cuppen E, Kloosterman WP, Frenkel J, van Diemen CC, Wijmenga C, van Gijn M, van der Meer JW.

Ann Rheum Dis. 2014 Feb;73(2):455-61. doi: 10.1136/annrheumdis-2012-202580. Epub 2013 Mar 16.

PMID:
23505238
16.

A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease.

Aeschlimann FA, Batu ED, Canna SW, Go E, Gül A, Hoffmann P, Leavis HL, Ozen S, Schwartz DM, Stone DL, van Royen-Kerkof A, Kastner DL, Aksentijevich I, Laxer RM.

Ann Rheum Dis. 2018 May;77(5):728-735. doi: 10.1136/annrheumdis-2017-212403. Epub 2018 Jan 9.

PMID:
29317407
17.

Validation of a diagnostic score for the diagnosis of autoinflammatory diseases in adults.

Cantarini L, Iacoponi F, Lucherini OM, Obici L, Brizi MG, Cimaz R, Rigante D, Benucci M, Sebastiani GD, Brucato A, Sabadini L, Simonini G, Giani T, Laghi Pasini F, Baldari CT, Bellisai F, Valentini G, Bombardieri S, Paolazzi G, Galeazzi M.

Int J Immunopathol Pharmacol. 2011 Jul-Sep;24(3):695-702.

18.

OTULIN restricts Met1-linked ubiquitination to control innate immune signaling.

Fiil BK, Damgaard RB, Wagner SA, Keusekotten K, Fritsch M, Bekker-Jensen S, Mailand N, Choudhary C, Komander D, Gyrd-Hansen M.

Mol Cell. 2013 Jun 27;50(6):818-830. doi: 10.1016/j.molcel.2013.06.004.

19.

Binding of OTULIN to the PUB domain of HOIP controls NF-κB signaling.

Schaeffer V, Akutsu M, Olma MH, Gomes LC, Kawasaki M, Dikic I.

Mol Cell. 2014 May 8;54(3):349-61. doi: 10.1016/j.molcel.2014.03.016. Epub 2014 Apr 10.

20.

The linear ubiquitin-specific deubiquitinase gumby regulates angiogenesis.

Rivkin E, Almeida SM, Ceccarelli DF, Juang YC, MacLean TA, Srikumar T, Huang H, Dunham WH, Fukumura R, Xie G, Gondo Y, Raught B, Gingras AC, Sicheri F, Cordes SP.

Nature. 2013 Jun 20;498(7454):318-24. doi: 10.1038/nature12296. Epub 2013 May 24.

Supplemental Content

Support Center