{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kurihara N"],"funding":["NCATS NIH HHS","NCI NIH HHS","NIAMS NIH HHS"],"pagination":["133-42"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC1705822"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["117(1)"],"pubmed_abstract":["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) mutation contributes to the development of this disease. To determine the effects of p62(P392L) expression on osteoclasts in vitro and in vivo, we introduced either the p62(P392L) or WT p62 gene into normal osteoclast precursors and targeted p62(P392L) expression to the osteoclast lineage in transgenic mice. p62(P392L)-transduced osteoclast precursors were hyperresponsive to receptor "],"journal":["The Journal of clinical investigation"],"pubmed_title":["Mutation of the sequestosome 1 (p62) gene increases osteoclastogenesis but does not induce Paget disease."],"pmcid":["PMC1705822"],"funding_grant_id":["P01 AR049363","P30-CA16059","UL1 TR000005","P01-AR049363","P30 CA016059"],"pubmed_authors":["Subler MA","Gruber HE","Windle JJ","Dempster DW","Kurihara N","Roodman GD","Zhou H","Hiruma Y","Reddy SV","Singer FR"],"additional_accession":[]},"is_claimable":false,"name":"Mutation of the sequestosome 1 (p62) gene increases osteoclastogenesis but does not induce Paget disease.","description":"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) mutation contributes to the development of this disease. To determine the effects of p62(P392L) expression on osteoclasts in vitro and in vivo, we introduced either the p62(P392L) or WT p62 gene into normal osteoclast precursors and targeted p62(P392L) expression to the osteoclast lineage in transgenic mice. p62(P392L)-transduced osteoclast precursors were hyperresponsive to receptor ","dates":{"release":"2007-01-01T00:00:00Z","publication":"2007 Jan","modification":"2025-04-27T03:49:10.642Z","creation":"2019-03-27T01:46:30Z"},"accession":"S-EPMC1705822","cross_references":{"pubmed":["17187080"],"doi":["10.1172/jci28267","10.1172/JCI28267"]}}