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

Nakajo-Nishimura syndrome (NNS) is a disorder that segregates in an autosomal recessive fashion. Symptoms include periodic fever, skin rash, partial lipomuscular atrophy, and joint contracture. Here, we report a mutation in the human proteasome subunit beta type 8 gene (PSMB8) that encodes the immun...

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Detalhes bibliográficos
Main Authors: Arima, Kazuhiko, Kinoshita, Akira, Mishima, Hiroyuki, Kanazawa, Nobuo, Kaneko, Takeumi, Mizushima, Tsunehiro, Ichinose, Kunihiro, Nakamura, Hideki, Tsujino, Akira, Kawakami, Atsushi, Matsunaka, Masahiro, Kasagi, Shimpei, Kawano, Seiji, Kumagai, Shunichi, Ohmura, Koichiro, Mimori, Tsuneyo, Hirano, Makito, Ueno, Satoshi, Tanaka, Keiko, Tanaka, Masami, Toyoshima, Itaru, Sugino, Hirotoshi, Yamakawa, Akio, Tanaka, Keiji, Niikawa, Norio, Furukawa, Fukumi, Murata, Shigeo, Eguchi, Katsumi, Ida, Hiroaki, Yoshiura, Koh-ichiro
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2011
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3169106/
https://ncbi.nlm.nih.gov/pubmed/21852578
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1106015108
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