Article
Disease-associated mutations in CIAS1 induce cathepsin B-dependent rapid cell death of human THP-1 monocytic cells.
Blood - 1 Apr 2007
Fujisawa Akihiro, Kambe Naotomo, Saito Megumu, Nishikomori Ryuta, Tanizaki Hideaki, Kanazawa Nobuo, Adachi Souichi, Heike Toshio, Sagara Junji, Suda Takashi, Nakahata Tatsutoshi, Miyachi Yoshiki
Abstract excerpt
Mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene are associated with a spectrum of autoinflammatory diseases, including familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurologic, cutaneous, articular syndrome, also known as neonatal-onset multisystem inflammatory disease. CIAS1 encodes cryopyrin, a protein that localizes to the cytosol and functions as...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.