Art

J-GLOBAL ID：201102220861960943   Reference number：11A1568691

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

プロテアソームβ8型(PSMB8)変異によるプロテアソーム集合欠損は自己炎症性疾患,中條-西村症候群を生じる

Author (31)： ARIMA Kazuhiko (Nagasaki Univ., Nagasaki, JPN) ,  KINOSHITA Akira (Nagasaki Univ., Nagasaki, JPN) ,  MISHIMA Hiroyuki (Nagasaki Univ., Nagasaki, JPN) ,  KANAZAWA Nobuo (Wakayama Medical Univ., Wakayama, JPN) ,  KANEKO Takeumi (Univ. Tokyo, Tokyo, JPN) ,  MIZUSHIMA Tsunehiro (Univ. Hyogo, Hyogo, JPN) ,  ICHINOSE Kunihiro (Nagasaki Univ., Nagasaki, JPN) ,  NAKAMURA Hideki (Nagasaki Univ., Nagasaki, JPN) ,  TSUJINO Akira (Nagasaki Univ. Graduate School of Biomedical Sci., Nagasaki) ,  KAWAKAMI Atsushi (Nagasaki Univ., Nagasaki, JPN) ,  MATSUNAKA Masahiro (Wakayama Medical Univ., Wakayama, JPN) ,  KASAGI Shimpei (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  KAWANO Seiji (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  KUMAGAI Shunichi (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  OHMURA Koichiro (Kyoto Univ., Kyoto, JPN) ,  MIMORI Tsuneyo (Kyoto Univ., Kyoto, JPN) ,  HIRANO Makito (Nara Medical Univ., Nara, JPN) ,  UENO Satoshi (Nara Medical Univ., Nara, JPN) ,  TANAKA Keiko (Kanazawa Medical Univ., Ishikawa, JPN) ,  TANAKA Masami (Utano National Hospital, Kyoto, JPN) ,  TOYOSHIMA Itaru (Akita Univ. School of Medicine, Akita, JPN) ,  SUGINO Hirotoshi (Sugino Pediatric Clinic, Hiroshima, JPN) ,  YAMAKAWA Akio (Univ. Tokyo, Tokyo, JPN) ,  TANAKA Keiji (Tokyo Metropolitan Inst. Medical Sci., Tokyo, JPN) ,  NIIKAWA Norio (Health Sci. Univ. Hokkaido, Hokkaido, JPN) ,  FURUKAWA Fukumi (Wakayama Medical Univ., Wakayama, JPN) ,  MURATA Shigeo (Univ. Tokyo, Tokyo, JPN) ,  EGUCHI Katsumi (Nagasaki Univ., Nagasaki, JPN) ,  IDA Hiroaki (Nagasaki Univ., Nagasaki, JPN) ,  IDA Hiroaki (Kurume Univ. School of Medicine, Fukuoka, JPN) ,  YOSHIURA Koh-ichiro (Nagasaki Univ., Nagasaki, JPN)
Material： Proceedings of the National Academy of Sciences of the United States of America  (PNAS)
Volume： 108  Issue： 36  Page： 14914-14919  Publication year： Sep. 06, 2011 
JST Material Number： D0387A  ISSN： 0027-8424  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： *proteasome ,  *hereditary disease ,  *Inflammation ,  Fever ,  Exanthema ,  Muscular Atrophy ,  Arthrogryposis ,  subunit ,  beta-structure ,  amino acid residue ,  *Auto-inflammatory diseases ,  *immuno-proteasome ,  threonine residue ,  *Genetic Variation
Semi thesaurus term： *genetic variation ,  *autosomal recessive inheritary disease

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Molecular genetics in general  (EC02010J)

Terms in the title (7)： プロテアソーム ,  PSMB8 ,  変異 ,  集合 ,  欠損 ,  自己炎症性疾患 ,  症候群