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Items: 1 to 20 of 176

1.

New insights into the role of sequestosome 1/p62 mutant proteins in the pathogenesis of Paget's disease of bone.

Rea SL, Walsh JP, Layfield R, Ratajczak T, Xu J.

Endocr Rev. 2013 Aug;34(4):501-24. doi: 10.1210/er.2012-1034. Epub 2013 Apr 23. Review.

PMID:
23612225
2.

A novel mutation (K378X) in the sequestosome 1 gene associated with increased NF-kappaB signaling and Paget's disease of bone with a severe phenotype.

Rea SL, Walsh JP, Ward L, Yip K, Ward BK, Kent GN, Steer JH, Xu J, Ratajczak T.

J Bone Miner Res. 2006 Jul;21(7):1136-45.

4.

A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment.

Hiruma Y, Kurihara N, Subler MA, Zhou H, Boykin CS, Zhang H, Ishizuka S, Dempster DW, Roodman GD, Windle JJ.

Hum Mol Genet. 2008 Dec 1;17(23):3708-19. doi: 10.1093/hmg/ddn266. Epub 2008 Sep 2.

5.

A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice.

Daroszewska A, van 't Hof RJ, Rojas JA, Layfield R, Landao-Basonga E, Rose L, Rose K, Ralston SH.

Hum Mol Genet. 2011 Jul 15;20(14):2734-44. doi: 10.1093/hmg/ddr172. Epub 2011 Apr 21.

6.

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.

J Bone Miner Res. 2009 Jul;24(7):1216-23. doi: 10.1359/jbmr.090214.

7.

The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts.

Chamoux E, Couture J, Bisson M, Morissette J, Brown JP, Roux S.

Mol Endocrinol. 2009 Oct;23(10):1668-80. doi: 10.1210/me.2009-0066. Epub 2009 Jul 9.

PMID:
19589897
8.

The S349T mutation of SQSTM1 links Keap1/Nrf2 signalling to Paget's disease of bone.

Wright T, Rea SL, Goode A, Bennett AJ, Ratajczak T, Long JE, Searle MS, Goldring CE, Park BK, Copple IM, Layfield R.

Bone. 2013 Feb;52(2):699-706. doi: 10.1016/j.bone.2012.10.023. Epub 2012 Oct 29.

PMID:
23117207
9.

Functional interaction between sequestosome-1/p62 and autophagy-linked FYVE-containing protein WDFY3 in human osteoclasts.

Hocking LJ, Mellis DJ, McCabe PS, Helfrich MH, Rogers MJ.

Biochem Biophys Res Commun. 2010 Nov 19;402(3):543-8. doi: 10.1016/j.bbrc.2010.10.076. Epub 2010 Oct 29.

PMID:
20971078
10.

Mutant p62P392L stimulation of osteoclast differentiation in Paget's disease of bone.

Sundaram K, Shanmugarajan S, Rao DS, Reddy SV.

Endocrinology. 2011 Nov;152(11):4180-9. doi: 10.1210/en.2011-1225. Epub 2011 Aug 30.

11.

Three novel mutations in SQSTM1 identified in familial Paget's disease of bone.

Johnson-Pais TL, Wisdom JH, Weldon KS, Cody JD, Hansen MF, Singer FR, Leach RJ.

J Bone Miner Res. 2003 Oct;18(10):1748-53.

12.

Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.

Collet C, Michou L, Audran M, Chasseigneaux S, Hilliquin P, Bardin T, Lemaire I, Cornélis F, Launay JM, Orcel P, Laplanche JL.

J Bone Miner Res. 2007 Feb;22(2):310-7.

13.

Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.

Hocking LJ, Lucas GJ, Daroszewska A, Mangion J, Olavesen M, Cundy T, Nicholson GC, Ward L, Bennett ST, Wuyts W, Van Hul W, Ralston SH.

Hum Mol Genet. 2002 Oct 15;11(22):2735-9.

14.

p62 mutations, ubiquitin recognition and Paget's disease of bone.

Layfield R, Cavey JR, Najat D, Long J, Sheppard PW, Ralston SH, Searle MS.

Biochem Soc Trans. 2006 Nov;34(Pt 5):735-7.

PMID:
17052185
15.

Characterization of a non-UBA domain missense mutation of sequestosome 1 (SQSTM1) in Paget's disease of bone.

Najat D, Garner T, Hagen T, Shaw B, Sheppard PW, Falchetti A, Marini F, Brandi ML, Long JE, Cavey JR, Searle MS, Layfield R.

J Bone Miner Res. 2009 Apr;24(4):632-42. doi: 10.1359/jbmr.081204.

16.

Mutant p62/SQSTM1 UBA domains linked to Paget's disease of bone differ in their abilities to function as stabilization signals.

Heinen C, Garner TP, Long J, Böttcher C, Ralston SH, Cavey JR, Searle MS, Layfield R, Dantuma NP.

FEBS Lett. 2010 Apr 16;584(8):1585-90. doi: 10.1016/j.febslet.2010.03.018. Epub 2010 Mar 15.

17.

Loss of ubiquitin-binding associated with Paget's disease of bone p62 (SQSTM1) mutations.

Cavey JR, Ralston SH, Hocking LJ, Sheppard PW, Ciani B, Searle MS, Layfield R.

J Bone Miner Res. 2005 Apr;20(4):619-24. Epub 2004 Dec 6.

18.

Pathogenesis of Paget's disease of bone.

Ralston SH.

Bone. 2008 Nov;43(5):819-25. doi: 10.1016/j.bone.2008.06.015. Epub 2008 Jul 11. Review.

PMID:
18672105
19.

Thirteen Chinese patients with sporadic Paget's disease of bone: clinical features, SQSTM1 mutation identification, and functional analysis.

Gu JM, Zhang ZL, Zhang H, Hu WW, Wang C, Yue H, Ke YH, He JW, Hu YQ, Li M, Liu YJ, Fu WZ.

J Bone Miner Metab. 2012 Sep;30(5):525-33. doi: 10.1007/s00774-012-0352-6. Epub 2012 Apr 11.

PMID:
22491873
20.

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.

J Bone Miner Res. 2004 Jul;19(7):1122-7. Epub 2004 Mar 22.

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