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Results: 1 to 20 of 92

1.

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tanaka K, Niikawa N, Furukawa F, Murata S, Eguchi K, Ida H, Yoshiura K.

Proc Natl Acad Sci U S A. 2011 Sep 6;108(36):14914-9. doi: 10.1073/pnas.1106015108. Epub 2011 Aug 18.

PMID:
21852578
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy.

Kanazawa N.

Allergol Int. 2012 Jun;61(2):197-206. doi: 10.2332/allergolint.11-RAI-0416. Epub 2012 Mar 25. Review.

PMID:
22441638
[PubMed - indexed for MEDLINE]
Free Article
3.

PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.

Agarwal AK, Xing C, DeMartino GN, Mizrachi D, Hernandez MD, Sousa AB, Martínez de Villarreal L, dos Santos HG, Garg A.

Am J Hum Genet. 2010 Dec 10;87(6):866-72. doi: 10.1016/j.ajhg.2010.10.031.

PMID:
21129723
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.

Kitamura A, Maekawa Y, Uehara H, Izumi K, Kawachi I, Nishizawa M, Toyoshima Y, Takahashi H, Standley DM, Tanaka K, Hamazaki J, Murata S, Obara K, Toyoshima I, Yasutomo K.

J Clin Invest. 2011 Oct;121(10):4150-60. doi: 10.1172/JCI58414. Epub 2011 Sep 1.

PMID:
21881205
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

[Nakajo-Nishimura syndrome].

Kanazawa N, Arima K, Ida H, Yoshiura K, Furukawa F.

Nihon Rinsho Meneki Gakkai Kaishi. 2011;34(5):388-400. Review. Japanese.

PMID:
22041427
[PubMed - indexed for MEDLINE]
Free Article
6.

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
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

A new infant case of Nakajo-Nishimura syndrome with a genetic mutation in the immunoproteasome subunit: an overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations.

Kunimoto K, Kimura A, Uede K, Okuda M, Aoyagi N, Furukawa F, Kanazawa N.

Dermatology. 2013;227(1):26-30. doi: 10.1159/000351323. Epub 2013 Aug 8.

PMID:
23942189
[PubMed - indexed for MEDLINE]
8.

Rare hereditary autoinflammatory disorders: towards an understanding of critical in vivo inflammatory pathways.

Kanazawa N.

J Dermatol Sci. 2012 Jun;66(3):183-9. doi: 10.1016/j.jdermsci.2012.01.004. Epub 2012 Jan 18. Review.

PMID:
22336993
[PubMed - indexed for MEDLINE]
9.

Immunoproteasome subunit LMP2 expression is deregulated in Sjogren's syndrome but not in other autoimmune disorders.

Krause S, Kuckelkorn U, Dörner T, Burmester GR, Feist E, Kloetzel PM.

Ann Rheum Dis. 2006 Aug;65(8):1021-7. Epub 2006 Jan 13.

PMID:
16414974
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Genetics of proteasome diseases.

Gomes AV.

Scientifica (Cairo). 2013;2013:637629. doi: 10.1155/2013/637629. Epub 2013 Dec 30.

PMID:
24490108
[PubMed]
Free PMC Article
11.

Mutation of mouse Mayp/Pstpip2 causes a macrophage autoinflammatory disease.

Grosse J, Chitu V, Marquardt A, Hanke P, Schmittwolf C, Zeitlmann L, Schropp P, Barth B, Yu P, Paffenholz R, Stumm G, Nehls M, Stanley ER.

Blood. 2006 Apr 15;107(8):3350-8. Epub 2006 Jan 5.

PMID:
16397132
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

IFN-gamma-induced immune adaptation of the proteasome system is an accelerated and transient response.

Heink S, Ludwig D, Kloetzel PM, Krüger E.

Proc Natl Acad Sci U S A. 2005 Jun 28;102(26):9241-6. Epub 2005 Jun 8.

PMID:
15944226
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

MDA-7/IL-24, a novel tumor suppressor/cytokine is ubiquitinated and regulated by the ubiquitin-proteasome system, and inhibition of MDA-7/IL-24 degradation enhances the antitumor activity.

Gopalan B, Shanker M, Scott A, Branch CD, Chada S, Ramesh R.

Cancer Gene Ther. 2008 Jan;15(1):1-8. Epub 2007 Sep 7.

PMID:
17828282
[PubMed - indexed for MEDLINE]
14.

Prevention of experimental colitis by a selective inhibitor of the immunoproteasome.

Basler M, Dajee M, Moll C, Groettrup M, Kirk CJ.

J Immunol. 2010 Jul 1;185(1):634-41. doi: 10.4049/jimmunol.0903182. Epub 2010 Jun 4.

PMID:
20525886
[PubMed - indexed for MEDLINE]
Free Article
15.

Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells.

Azakir BA, Di Fulvio S, Kinter J, Sinnreich M.

J Biol Chem. 2012 Mar 23;287(13):10344-54. doi: 10.1074/jbc.M111.329078. Epub 2012 Feb 8.

PMID:
22318734
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1.

Goldbach-Mansky R.

Clin Exp Immunol. 2012 Mar;167(3):391-404. doi: 10.1111/j.1365-2249.2011.04533.x. Review.

PMID:
22288582
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations.

McDermott A, Jesus AA, Liu Y, Kim P, Jacks J, Montealegre Sanchez GA, Chen Y, Kannan A, Schnebelen A, Emanuel PD, Shalin S, Hiatt K, Goldbach-Mansky R, Gao L.

J Am Acad Dermatol. 2013 Jul;69(1):e29-32. doi: 10.1016/j.jaad.2013.01.015. No abstract available.

PMID:
23768303
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.

Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, Stein L, Russo R, Goldsmith D, Dent P, Rosenberg HF, Austin F, Remmers EF, Balow JE Jr, Rosenzweig S, Komarow H, Shoham NG, Wood G, Jones J, Mangra N, Carrero H, Adams BS, Moore TL, Schikler K, Hoffman H, Lovell DJ, Lipnick R, Barron K, O'Shea JJ, Kastner DL, Goldbach-Mansky R.

Arthritis Rheum. 2002 Dec;46(12):3340-8.

PMID:
12483741
[PubMed - indexed for MEDLINE]
Free Article
19.

Highly divergent dimorphic alleles of the proteasome subunit beta type-8 (PSMB8) gene of the bichir Polypterus senegalus: implication for evolution of the PSMB8 gene of jawed vertebrates.

Fujito NT, Nonaka M.

Immunogenetics. 2012 Jun;64(6):447-53. doi: 10.1007/s00251-012-0602-8. Epub 2012 Feb 10.

PMID:
22322674
[PubMed - indexed for MEDLINE]
20.

Dimorphisms of the proteasome subunit beta type 8 gene (PSMB8) of ectothermic tetrapods originated in multiple independent evolutionary events.

Huang CH, Tanaka Y, Fujito NT, Nonaka M.

Immunogenetics. 2013 Nov;65(11):811-21. doi: 10.1007/s00251-013-0729-2. Epub 2013 Aug 28.

PMID:
23982299
[PubMed - indexed for MEDLINE]

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