Article
The homozygous founder Psmb8 variant of Nakajo-Nishimura syndrome/proteasome-associated autoinflammatory syndrome causes panniculitis-associated lipoatrophy and a shortened lifespan in mice.
Scientific reports - 28 May 2026
Hara Tomoyuki, Kinoshita Akira, Hamazaki Jun, Hemmi Hiroaki, Kato Takashi, Sasaki Izumi, Inaba Yutaka, Yamashita Yusuke, Okuzaki Daisuke, Yoshiura Koh-Ichiro, Murata Shigeo, Jinnin Masatoshi, Kaisho Tsuneyasu, Kanazawa Nobuo
Abstract excerpt
Nakajo-Nishimura syndrome/proteasome-associated autoinflammatory syndrome (NNS/PRAAS) is a hereditary autoinflammatory disease. Clinically, NNS/PRAAS is characterized by periodic fever, skin rash, partial lipo-muscular atrophy, and joint contractures. Among PRAAS, NNS, is genetically characterized by a homozygous founder variant in the proteasome subunit beta type 8 (PSMB8) gene encoding an inducible proteasome...
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