BMC Med Genet 2017 11 16;18(1):133. Epub 2017 Nov 16.
CHU de Québec-Université Laval Research Centre, Quebec, QC, Canada.
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J Bone Miner Res 2006 Jul;21(7):1136-45
Laboratory for Molecular Endocrinology, Western Australian Institute for Medical Research, University of Western Australia, Nedlands.
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. Read More
Hum Genet 2014 Jun 27;133(6):755-68. Epub 2013 Dec 27.
CHU de Québec Research Centre, Quebec, QC, Canada.
In genome-wide association studies, single nucleotide polymorphisms located in five novel loci were associated with PDB. We aimed at identifying rare genetic variants of candidate genes located in these loci and search for genetic association with PDB in the French-Canadian population. Exons, promoter and exon-intron junctions from patients with familial PDB and healthy individuals were sequenced in candidate genes, located within novel loci associated with PDB in our population. Read More
Int J Mol Med 2013 Feb 21;31(2):292-8. Epub 2012 Dec 21.
Department of Orthodontics, Hokkaido University Graduate School of Dental Medicine, Sapporo 060-8586, Japan.
Mechanical stress is an important factor in bone homeostasis, which is maintained by a balance between bone resorption by osteoclasts and bone formation by osteoblasts. However, little is known about the effects of mechanical stress on osteoclast differentiation. In this study, we examined the effects of short-term mechanical stress on osteoclastogenesis by applying tensile force to RAW264. Read More
Am J Pathol 2006 Aug;169(2):503-14
Molecular Orthopaedic Laboratory, School of Surgery and Pathology, University of Western Australia, QEII Medical Centre, 2nd Floor M Block, Nedlands, WA, Australia 6009.
Paget's disease of bone (PDB) is a debilitating bone disorder characterized by giant osteoclasts, enhanced bone destruction, and irregular bone formation. Recently, mutations in SQSTM1 (also known as p62) have been detected in PDB sufferers, with all mutations resulting in either loss of function or truncation/deletion of the ubiquitin binding-associated (UBA) domain. We hypothesized that mutation in the p62 gene resulting in either deletion or premature termination of the UBA domain accounts for the elevated osteoclastic formation and bone resorption associated with PDB. Read More