Article
The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts.
Molecular endocrinology (Baltimore, Md.) - 1 Oct 2009
Chamoux Estelle, Couture Julie, Bisson Martine, Morissette Jean, Brown Jacques P, Roux Sophie
Abstract excerpt
Mutations of the gene encoding p62/SQSTM1 have been described in Paget's disease of bone (PDB), identifying p62 as an important player in osteoclast signaling. We investigated the phenotype of osteoclasts differentiated from peripheral blood monocytes obtained from healthy donors or PDB patients, all genotyped for the presence of a mutation in the p62 ubiquitin-associated domain. The cohort included PDB patients...
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