SH3BP2 cherubism mutation potentiates TNF-α-induced osteoclastogenesis via NFATc1 and TNF-α-mediated inflammatory bone loss.

doi:10.1002/jbmr.2295

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SH3BP2 cherubism mutation potentiates TNF-α-induced osteoclastogenesis via NFATc1 and TNF-α-mediated inflammatory bone loss.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Dec 2014

Mukai Tomoyuki, Ishida Shu, Ishikawa Remi, Yoshitaka Teruhito, Kittaka Mizuho, Gallant Richard, Lin Yi-Ling, Rottapel Robert, Brotto Marco, Reichenberger Ernst J, Ueki Yasuyoshi

Abstract excerpt

Cherubism (OMIM# 118400) is a genetic disorder with excessive jawbone resorption caused by mutations in SH3 domain binding protein 2 (SH3BP2), a signaling adaptor protein. Studies on the mouse model for cherubism carrying a P416R knock-in (KI) mutation have revealed that mutant SH3BP2 enhances tumor necrosis factor (TNF)-α production and receptor activator of nuclear factor-κB ligand (RANKL)-induced osteoclast...

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PMID: 24916406
DOI: 10.1002/jbmr.2295
PMCID: PMC4262741

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