2012 Fiscal Year Final Research Report
Functional human protein analysis in the post-genome era learning to new autoinflammatory diseases
Project/Area Number |
22591094
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
膠原病・アレルギー・感染症内科学
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Research Institution | Kurume University |
Principal Investigator |
IDA Hiroaki 久留米大学, 医学部, 准教授 (60363496)
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Co-Investigator(Kenkyū-buntansha) |
ARIMA Kazuhiko 長崎大学, 医歯薬学総合研究科, 助教 (30423635)
|
Co-Investigator(Renkei-kenkyūsha) |
YOSHIURA Kohichiro 長崎大学, 医歯薬学総合研究科, 教授 (00304931)
|
Project Period (FY) |
2010 – 2012
|
Keywords | 自己炎症 / 自己炎症疾患 / 遺伝学 / 遺伝子 / ゲノム / 生体分子 / プロテアソーム |
Research Abstract |
In Nakajo-Nishimura syndrome, a decrease in proteasome activity, which is associated with a novel mutation of the β5i immunoproteasome subunit, causes definitive human autoinflammatory phenotypes. This fact suggests that the ubiquitin-proteasome pathway might play an important role for inflammation and provides a new insight into the pathogenesis of other persistent inflammatory diseases.Primary hypertrophic osteoarthropathy (PHO) should be caused by SLCO2A1mutations and MEFVmutations might be one of the risk factors for inflammatory responses in this disease.
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[Journal Article] Familial Mediterranean Fever in Japan.2012
Author(s)
Migita K, Uehara R, Nakamura Y, Yasunami M, Tsuchiya-Suzuki A, Yazaki M, Nakamura A, Masumoto J, Yachie A, Furukawa H, Ishibashi H, Ida H, Yamazaki K, Kawakami A, Agematsu K.
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Journal Title
Medicine (Baltimore)
Volume: 91
Pages: 337-343
DOI
Peer Reviewed
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[Journal Article] Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.2011
Author(s)
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.
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Journal Title
Proc Natl Acad Sci USA.
Volume: 108
Pages: 14914-14919
DOI
Peer Reviewed
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