Article
Mutation of the sequestosome 1 (p62) gene increases osteoclastogenesis but does not induce Paget disease.
The Journal of clinical investigation - 1 Jan 2007
Kurihara Noriyoshi, Hiruma Yuko, Zhou Hua, Subler Mark A, Dempster David W, Singer Frederick R, Reddy Sakamuri V, Gruber Helen E, Windle Jolene J, Roodman G David
Abstract excerpt
Paget disease is the most exaggerated example of abnormal bone remodeling, with the primary cellular abnormality in the osteoclast. Mutations in the p62 (sequestosome 1) gene occur in one-third of patients with familial Paget disease and in a minority of patients with sporadic Paget disease, with the P392L amino acid substitution being the most commonly observed mutation. However, it is unknown how p62(P392L)...
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