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Article

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

1 Jul 2006

Abstract excerpt

UNLABELLED: Sequestosome 1/p62 (p62) mutations are associated with PDB; however, there are limited data regarding functional consequences. We report a novel mutation in exon 7 (K378X) in a patient with polyostotic Paget's disease of bone. p62 mutants increased NF-kappaB activation and significantly potentiated osteoclast formation and bone resorption in human primary cell cultures. INTRODUCTION: Sequestosome...

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PMID: 16813535
DOI: 10.1359/jbmr.060405

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