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Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences.
Hocking LJ, Lucas GJ, Daroszewska A, Cundy T, Nicholson GC, Donath J, Walsh JP, Finlayson C, Cavey JR, Ciani B, Sheppard PW, Searle MS, Layfield R, Ralston SH. Hocking LJ, et al. Among authors: layfield r. J Bone Miner Res. 2004 Jul;19(7):1122-7. doi: 10.1359/JBMR.0403015. Epub 2004 Mar 22. J Bone Miner Res. 2004. PMID: 15176995 Free article.
SQSTM1 and Paget's disease of bone.
Layfield R, Hocking LJ. Layfield R, et al. Calcif Tissue Int. 2004 Nov;75(5):347-57. doi: 10.1007/s00223-004-0041-0. Epub 2004 Sep 16. Calcif Tissue Int. 2004. PMID: 15365659 Review.
Sequestosome 1 mutations in Paget's disease of bone in Australia: prevalence, genotype/phenotype correlation, and a novel non-UBA domain mutation (P364S) associated with increased NF-kappaB signaling without loss of ubiquitin binding.
Rea SL, Walsh JP, Ward L, Magno AL, Ward BK, Shaw B, Layfield R, Kent GN, Xu J, Ratajczak T. Rea SL, et al. Among authors: layfield r. J Bone Miner Res. 2009 Jul;24(7):1216-23. doi: 10.1359/jbmr.090214. J Bone Miner Res. 2009. PMID: 19257822 Free article.
218 results