A Novel Mutation (K378X) in the <i>Sequestosome 1</i> Gene Associated With Increased NF-κB Signaling and Paget's Disease of Bone With a Severe Phenotype

Abstract

Our data show that mutation of the p62 UBA domain results in increased activation of NF-kappaB and osteoclast formation and function compared with wildtype p62. These results may partially explain the mechanism by which p62 mutation contributes to the pathogenesis of PDB.