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

Proteasomes are multisubunit proteases that play a critical role in maintaining cellular function through the selective degradation of ubiquitinated proteins. When 3 additional β subunits, expression of which is induced by IFN-γ, are substituted for their constitutively expressed counterparts, the s...

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Bibliographic Details
Main Authors: Kitamura, Akiko, Maekawa, Yoichi, Uehara, Hisanori, Izumi, Keisuke, Kawachi, Izumi, Nishizawa, Masatoyo, Toyoshima, Yasuko, Takahashi, Hitoshi, Standley, Daron M., Tanaka, Keiji, Hamazaki, Jun, Murata, Shigeo, Obara, Koji, Toyoshima, Itaru, Yasutomo, Koji
Format: Artigo
Language:Inglês
Published: American Society for Clinical Investigation 2011
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3195477/
https://ncbi.nlm.nih.gov/pubmed/21881205
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI58414
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