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Items: 1 to 20 of 83

1.

Genetics of proteasome diseases.

Gomes AV.

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

2.

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.

3.

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.

4.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, Almeida de Jesus A, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CC, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother KI, Hildebrand PW, Brogan P, Krüger E, Aksentijevich I, Goldbach-Mansky R.

J Clin Invest. 2015 Nov 2;125(11):4196-211. doi: 10.1172/JCI81260. Epub 2015 Oct 20. Erratum in: J Clin Invest. 2016 Feb;126(2):795. Rother, Kristina [corrected to Rother, Kristina I].

5.

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
6.

Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management.

McDermott A, Jacks J, Kessler M, Emanuel PD, Gao L.

Int J Dermatol. 2015 Feb;54(2):121-9. doi: 10.1111/ijd.12695. Epub 2014 Dec 18. Review.

PMID:
25521013
7.

The -8 UTR C/G polymorphism of PSMA6 gene is associated with susceptibility to myocardial infarction in type 2 diabetic patients.

Barbieri M, Marfella R, Rizzo MR, Boccardi V, Siniscalchi M, Schiattarella C, Siciliano S, Lemme P, Paolisso G.

Atherosclerosis. 2008 Nov;201(1):117-23. doi: 10.1016/j.atherosclerosis.2008.01.005. Epub 2008 Mar 20.

PMID:
18358479
8.

The G-Allele of the PSMA6-8C>G polymorphism is associated with poor outcome in multiple myeloma independently of circulating proteasome serum levels.

Bachmann HS, Novotny J, Sixt S, Liebisch P, Frey UH, Dührsen U, Siffert W, Nückel H.

Eur J Haematol. 2010 Aug;85(2):108-13. doi: 10.1111/j.1600-0609.2010.01455.x. Epub 2010 Apr 8.

PMID:
20408869
9.

CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation.

Torrelo A.

Front Immunol. 2017 Aug 9;8:927. doi: 10.3389/fimmu.2017.00927. eCollection 2017. Review.

11.

[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.

12.

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.

13.

PSMB9 codon 60 polymorphisms have no impact on the activity of the immunoproteasome catalytic subunit B1i expressed in multiple types of solid cancer.

Park JE, Ao L, Miller Z, Kim K, Wu Y, Jang ER, Lee EY, Kim KB, Lee W.

PLoS One. 2013 Sep 9;8(9):e73732. doi: 10.1371/journal.pone.0073732. eCollection 2013.

14.

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
15.

Two abundant proteasome subtypes that uniquely process some antigens presented by HLA class I molecules.

Guillaume B, Chapiro J, Stroobant V, Colau D, Van Holle B, Parvizi G, Bousquet-Dubouch MP, Théate I, Parmentier N, Van den Eynde BJ.

Proc Natl Acad Sci U S A. 2010 Oct 26;107(43):18599-604. doi: 10.1073/pnas.1009778107. Epub 2010 Oct 11.

16.

Purification and separation of the 20S immunoproteasome from the constitutive proteasome and identification of the subunits by LC-MS.

Dechavanne V, Vilbois F, Glez L, Antonsson B.

Protein Expr Purif. 2013 Feb;87(2):100-10. doi: 10.1016/j.pep.2012.10.009. Epub 2012 Nov 9.

PMID:
23147206
17.

The Immunoproteasome in Human Lens Epithelial Cells During Oxidative Stress.

Petersen A, Zetterberg M.

Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):5038-5045. doi: 10.1167/iovs.16-19536.

PMID:
27661855
18.

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.

19.

Analysis of the processing of seven human tumor antigens by intermediate proteasomes.

Guillaume B, Stroobant V, Bousquet-Dubouch MP, Colau D, Chapiro J, Parmentier N, Dalet A, Van den Eynde BJ.

J Immunol. 2012 Oct 1;189(7):3538-47. Epub 2012 Aug 27.

20.

Development and characterization of human constitutive proteasome and immunoproteasome subunit-specific monoclonal antibodies.

Bandoh N, Ogino T, Cho HS, Hur SY, Shen J, Wang X, Kato S, Miyokawa N, Harabuchi Y, Ferrone S.

Tissue Antigens. 2005 Sep;66(3):185-94.

PMID:
16101829

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