182 related articles for article (PubMed ID: 32036052)
1. A mutation in p62 protein (p. R321C), associated to Paget's disease of bone, causes a blockade of autophagy and an activation of NF-kB pathway.
Usategui-Martín R; Gestoso-Uzal N; Calero-Paniagua I; De Pereda JM; Del Pino-Montes J; González-Sarmiento R
Bone; 2020 Apr; 133():115265. PubMed ID: 32036052
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 23612225
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 19257822
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 16813535
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 14584883
[TBL] [Abstract][Full Text] [Related]
6. 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; 17(23):3708-19. PubMed ID: 18765443
[TBL] [Abstract][Full Text] [Related]
7. Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone.
Morissette J; Laurin N; Brown JP
J Bone Miner Res; 2006 Dec; 21 Suppl 2():P38-44. PubMed ID: 17229007
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 19589897
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 17129171
[TBL] [Abstract][Full Text] [Related]
10. Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).
Falchetti A; Di Stefano M; Marini F; Del Monte F; Mavilia C; Strigoli D; De Feo ML; Isaia G; Masi L; Amedei A; Cioppi F; Ghinoi V; Bongi SM; Di Fede G; Sferrazza C; Rini GB; Melchiorre D; Matucci-Cerinic M; Brandi ML
J Bone Miner Res; 2004 Jun; 19(6):1013-7. PubMed ID: 15125799
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 19049332
[TBL] [Abstract][Full Text] [Related]
12. Genetic epidemiology of Paget's disease of bone in italy: sequestosome1/p62 gene mutational test and haplotype analysis at 5q35 in a large representative series of sporadic and familial Italian cases of Paget's disease of bone.
Falchetti A; Di Stefano M; Marini F; Ortolani S; Ulivieri MF; Bergui S; Masi L; Cepollaro C; Benucci M; Di Munno O; Rossini M; Adami S; Del Puente A; Isaia G; Torricelli F; Brandi ML;
Calcif Tissue Int; 2009 Jan; 84(1):20-37. PubMed ID: 19067022
[TBL] [Abstract][Full Text] [Related]
13. The Implications of the Sequestosome 1 Mutation P392L in Patients with Paget's Disease in a United States Cohort.
Seton M; Hansen M; Solomon DH
Calcif Tissue Int; 2016 May; 98(5):489-96. PubMed ID: 26713335
[TBL] [Abstract][Full Text] [Related]
14. Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family.
Falchetti A; Di Stefano M; Marini F; Del Monte F; Gozzini A; Masi L; Tanini A; Amedei A; Carossino A; Isaia G; Brandi ML
Arthritis Res Ther; 2005; 7(6):R1289-95. PubMed ID: 16277682
[TBL] [Abstract][Full Text] [Related]
15. Epidemiogenetic study of French families with Paget's disease of bone.
Michou L; Collet C; Morissette J; Audran M; Thomas T; Gagnon E; Launay JM; Laplanche JL; Brown JP; Orcel P
Joint Bone Spine; 2012 Jul; 79(4):393-8. PubMed ID: 21962384
[TBL] [Abstract][Full Text] [Related]
16. SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD.
Rea SL; Majcher V; Searle MS; Layfield R
Exp Cell Res; 2014 Jul; 325(1):27-37. PubMed ID: 24486447
[TBL] [Abstract][Full Text] [Related]
17. 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; 11(22):2735-9. PubMed ID: 12374763
[TBL] [Abstract][Full Text] [Related]
18. Gene expression profile in osteoclasts from patients with Paget's disease of bone.
Michou L; Chamoux E; Couture J; Morissette J; Brown JP; Roux S
Bone; 2010 Mar; 46(3):598-603. PubMed ID: 19925894
[TBL] [Abstract][Full Text] [Related]
19. p62 ubiquitin binding-associated domain mediated the receptor activator of nuclear factor-kappaB ligand-induced osteoclast formation: a new insight into the pathogenesis of Paget's disease of bone.
Yip KH; Feng H; Pavlos NJ; Zheng MH; Xu J
Am J Pathol; 2006 Aug; 169(2):503-14. PubMed ID: 16877352
[TBL] [Abstract][Full Text] [Related]
20. 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; 20(14):2734-44. PubMed ID: 21515589
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]