메뉴 건너뛰기




Volumn 78, Issue 5, 2006, Pages 271-277

Loss of ubiquitin binding is a unifying mechanism by which mutations of SQSTM1 cause Paget's disease of bone

Author keywords

p62; Paget's disease of bone; SQSTM1; Ubiquitin; Ubiquitin associated domain

Indexed keywords

GENE PRODUCT; GLUTATHIONE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; OSTEOCLAST DIFFERENTIATION FACTOR; PARATHYROID HORMONE RELATED PROTEIN; POLYUBIQUITIN; PROTEASOME; PROTEIN P62; SEPHAROSE; SQSTM1 PROTEIN; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 6; UBIQUITIN; UNCLASSIFIED DRUG;

EID: 33646597289     PISSN: 0171967X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00223-005-1299-6     Document Type: Article
Times cited : (72)

References (31)
  • 1
    • 0030732102 scopus 로고    scopus 로고
    • Genetic linkage of Paget disease of the bone to chromosome 18q
    • Cody JD, Singer FR, Roodman GD, et al. (1997) Genetic linkage of Paget disease of the bone to chromosome 18q. Am J Hum Genet 61:1117-1122
    • (1997) Am J Hum Genet , vol.61 , pp. 1117-1122
    • Cody, J.D.1    Singer, F.R.2    Roodman, G.D.3
  • 2
    • 0036154961 scopus 로고    scopus 로고
    • Linkage of Paget disease of bone to a novel region on human chromosome 18q23
    • Good DA, Busfield F, Fletcher BH, et al. (2001) Linkage of Paget disease of bone to a novel region on human chromosome 18q23. Am J Hum Genet 70:517-525
    • (2001) Am J Hum Genet , vol.70 , pp. 517-525
    • Good, D.A.1    Busfield, F.2    Fletcher, B.H.3
  • 3
    • 0031778038 scopus 로고    scopus 로고
    • Paget's disease of bone: Evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity
    • Haslam SI, Van Hul W, Morales-Piga A, et al. (1998) Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity. J Bone Miner Res 13:911-917
    • (1998) J Bone Miner Res , vol.13 , pp. 911-917
    • Haslam, S.I.1    Van Hul, W.2    Morales-Piga, A.3
  • 4
    • 0034763552 scopus 로고    scopus 로고
    • Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35
    • Hocking LJ, Herbert CA, Nicholls RK, et al. (2001) Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35. Am J Hum Genet 69:1055-1061
    • (2001) Am J Hum Genet , vol.69 , pp. 1055-1061
    • Hocking, L.J.1    Herbert, C.A.2    Nicholls, R.K.3
  • 5
    • 0028123296 scopus 로고
    • Genetic linkage of familial expansile osteolysis to chromosome 18q
    • Hughes AE, Shearman AM, Weber JL, et al. (1994) Genetic linkage of familial expansile osteolysis to chromosome 18q. Hum Mol Genet 3:359-361
    • (1994) Hum Mol Genet , vol.3 , pp. 359-361
    • Hughes, A.E.1    Shearman, A.M.2    Weber, J.L.3
  • 6
    • 0034883779 scopus 로고    scopus 로고
    • Paget disease of bone: Mapping of two loci at 5q35-qter and 5q31
    • Laurin N, Brown JP, Lemainque A, et al. (2001) Paget disease of bone: mapping of two loci at 5q35-qter and 5q31. Am J Hum Genet 69:528-543
    • (2001) Am J Hum Genet , vol.69 , pp. 528-543
    • Laurin, N.1    Brown, J.P.2    Lemainque, A.3
  • 7
    • 2342493320 scopus 로고    scopus 로고
    • Familial Paget's disease in the Netherlands: Occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations
    • Eekhoff EW, Karperien M, Houtsma D, et al. (2004) Familial Paget's disease in the Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations. Arthritis Rheum 50:1650-1654
    • (2004) Arthritis Rheum , vol.50 , pp. 1650-1654
    • Eekhoff, E.W.1    Karperien, M.2    Houtsma, D.3
  • 8
    • 8644267864 scopus 로고    scopus 로고
    • Two novel mutations at exon 8 of Sequestosome 1 gene (SQSTM1) in an Italian serie of patients affected by Paget's disease of bone (PDB)
    • Falchetti A, Di Stefano M, Marini F, et al. (2004) Two novel mutations at exon 8 of Sequestosome 1 gene (SQSTM1) in an Italian serie of patients affected by Paget's disease of bone (PDB). J Bone Miner Res 19:1013-1017
    • (2004) J Bone Miner Res , vol.19 , pp. 1013-1017
    • Falchetti, A.1    Di Stefano, M.2    Marini, F.3
  • 9
    • 0037108914 scopus 로고    scopus 로고
    • Domain specific mutations in Sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease
    • Hocking LJ, Lucas GJA, Daroszewska A, et al. (2002) Domain specific mutations in Sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. Hum Mol Genet 11:2735-2739
    • (2002) Hum Mol Genet , vol.11 , pp. 2735-2739
    • Hocking, L.J.1    Lucas, G.J.A.2    Daroszewska, A.3
  • 10
    • 4544371010 scopus 로고    scopus 로고
    • Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: Genotype phenotype correlation, functional analysis, and structural consequences
    • Hocking LJ, Lucas GJA, Daroszewska A, et al. (2004) Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences. J Bone Miner Res 19:1122-1127
    • (2004) J Bone Miner Res , vol.19 , pp. 1122-1127
    • Hocking, L.J.1    Lucas, G.J.A.2    Daroszewska, A.3
  • 11
    • 0142148013 scopus 로고    scopus 로고
    • Three novel mutations in SQSTM1 identified in familial Paget's disease of bone
    • Johnson-Pais TL, Wisdom JH, Weldon KS, et al. (2003) Three novel mutations in SQSTM1 identified in familial Paget's disease of bone. J Bone Miner Res 18:1748-1753
    • (2003) J Bone Miner Res , vol.18 , pp. 1748-1753
    • Johnson-Pais, T.L.1    Wisdom, J.H.2    Weldon, K.S.3
  • 12
    • 0036094026 scopus 로고    scopus 로고
    • Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone
    • Laurin N, Brown JP, Morissette J, Raymond V (2002) Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. Am J Hum Genet 70:1582-1588
    • (2002) Am J Hum Genet , vol.70 , pp. 1582-1588
    • Laurin, N.1    Brown, J.P.2    Morissette, J.3    Raymond, V.4
  • 13
    • 0442325388 scopus 로고    scopus 로고
    • The atypical PKC-interacting protein p62 is an important mediator of RANK-activated osteoclastogenesis
    • Duran A, Serrano M, Leitges M, et al. (2004) The atypical PKC-interacting protein p62 is an important mediator of RANK-activated osteoclastogenesis. Dev Cell 6:303-309
    • (2004) Dev Cell , vol.6 , pp. 303-309
    • Duran, A.1    Serrano, M.2    Leitges, M.3
  • 14
    • 4143061786 scopus 로고    scopus 로고
    • Binding of polyubiquitin chains to ubiquitin-associated (UBA) domains of HHR23A
    • Raasi S, Orlov I, Fleming KG, Pickart CM (2004) Binding of polyubiquitin chains to ubiquitin-associated (UBA) domains of HHR23A. J Mol Biol 341:1367-1379
    • (2004) J Mol Biol , vol.341 , pp. 1367-1379
    • Raasi, S.1    Orlov, I.2    Fleming, K.G.3    Pickart, C.M.4
  • 15
    • 0034798985 scopus 로고    scopus 로고
    • Proteins containing the UBA domain are able to bind to multi-ubiquitin chains
    • Wilkinson CR, Seeger M, Hartmann-Petersen R, et al. (2001) Proteins containing the UBA domain are able to bind to multi-ubiquitin chains. Nat Cell Biol 3:939-943
    • (2001) Nat Cell Biol , vol.3 , pp. 939-943
    • Wilkinson, C.R.1    Seeger, M.2    Hartmann-Petersen, R.3
  • 16
    • 0141844580 scopus 로고    scopus 로고
    • Structure of the UBA domain of p62 (SQSTM1) and implications for mutations which cause Paget's disease of bone
    • Ciani B, Layfield R, Cavey JR, Sheppard PW, Searle MS (2003) Structure of the UBA domain of p62 (SQSTM1) and implications for mutations which cause Paget's disease of bone. J Biol Chem 278:37409-37412
    • (2003) J Biol Chem , vol.278 , pp. 37409-37412
    • Ciani, B.1    Layfield, R.2    Cavey, J.R.3    Sheppard, P.W.4    Searle, M.S.5
  • 17
    • 0032253214 scopus 로고    scopus 로고
    • p62 and the sequestosome, a novel mechanism for protein metabolism
    • Shin J (1998) p62 and the sequestosome, a novel mechanism for protein metabolism. Arch Pharm Res 21:629-633
    • (1998) Arch Pharm Res , vol.21 , pp. 629-633
    • Shin, J.1
  • 19
    • 4344712350 scopus 로고    scopus 로고
    • TAB2 and TAB3 activate the NF-kappaB pathway through binding to polyubiquitin chains
    • Kanayama A, Seth RB, Sun L, et al. (2004) TAB2 and TAB3 activate the NF-kappaB pathway through binding to polyubiquitin chains. Mol Cell 15:535-548
    • (2004) Mol Cell , vol.15 , pp. 535-548
    • Kanayama, A.1    Seth, R.B.2    Sun, L.3
  • 20
    • 11944268320 scopus 로고    scopus 로고
    • SQSTM1 and Paget's disease of bone
    • Layfield R, Hocking LJ (2004) SQSTM1 and Paget's disease of bone. Calcif Tissue Int 75:347-357
    • (2004) Calcif Tissue Int , vol.75 , pp. 347-357
    • Layfield, R.1    Hocking, L.J.2
  • 21
    • 27444433045 scopus 로고    scopus 로고
    • The p62 scaffold regulates NGF-induced NF-kappa B activation by influencing TRAF6 polyubiquitination
    • Wooten MW, Geetha T, Seibenhener ML, et al. (2005) The p62 scaffold regulates NGF-induced NF-kappa B activation by influencing TRAF6 polyubiquitination. J Biol Chem 280:35625-35629
    • (2005) J Biol Chem , vol.280 , pp. 35625-35629
    • Wooten, M.W.1    Geetha, T.2    Seibenhener, M.L.3
  • 22
    • 15344339092 scopus 로고    scopus 로고
    • Loss of ubiquitin-binding associated with Paget's disease of bone p62 (SQSTM1) mutations
    • Cavey JR, Ralston SH, Hocking LJ, et al. (2005) Loss of ubiquitin-binding associated with Paget's disease of bone p62 (SQSTM1) mutations. J Bone Miner Res 20:619-624
    • (2005) J Bone Miner Res , vol.20 , pp. 619-624
    • Cavey, J.R.1    Ralston, S.H.2    Hocking, L.J.3
  • 24
    • 0036300780 scopus 로고    scopus 로고
    • Solution structures of UBA domains reveal a conserved hydrophobic surface for protein-protein interactions
    • Mueller TD, Feigon J (2002) Solution structures of UBA domains reveal a conserved hydrophobic surface for protein-protein interactions. J Mol Biol 319:1243-1255
    • (2002) J Mol Biol , vol.319 , pp. 1243-1255
    • Mueller, T.D.1    Feigon, J.2
  • 25
    • 0043267732 scopus 로고    scopus 로고
    • Genetic regulation of osteoclast development and function
    • Teitelbaum SL, Ross FP (2003) Genetic regulation of osteoclast development and function. Nat Rev Genet 4:638-649
    • (2003) Nat Rev Genet , vol.4 , pp. 638-649
    • Teitelbaum, S.L.1    Ross, F.P.2
  • 26
    • 21344463770 scopus 로고    scopus 로고
    • Sequestosome 1/p62 shuttles polyubiquitinated tau for proteasomal degradation
    • Babu JR, Geetha T, Wooten MW (2005) Sequestosome 1/p62 shuttles polyubiquitinated tau for proteasomal degradation. J Neurochem 94:192-203
    • (2005) J Neurochem , vol.94 , pp. 192-203
    • Babu, J.R.1    Geetha, T.2    Wooten, M.W.3
  • 27
    • 4444220680 scopus 로고    scopus 로고
    • Sequestosome 1/p62 is a polyubiquitin chain binding protein involved in ubiquitin proteasome degradation
    • Seibenhener ML, Babu JR, Geetha T, Wong HC, Krishna NR, Wooten MW (2004) Sequestosome 1/p62 is a polyubiquitin chain binding protein involved in ubiquitin proteasome degradation. Mol Cell Biol 24:8055-8068
    • (2004) Mol Cell Biol , vol.24 , pp. 8055-8068
    • Seibenhener, M.L.1    Babu, J.R.2    Geetha, T.3    Wong, H.C.4    Krishna, N.R.5    Wooten, M.W.6
  • 28
    • 26944465404 scopus 로고    scopus 로고
    • Diverse polyubiquitin interaction properties of ubiquitin-associated domains
    • Raasi S, Varadan R, Fushman D, Pickart CM (2005) Diverse polyubiquitin interaction properties of ubiquitin-associated domains. Nat Struct Mol Biol 12:708-714
    • (2005) Nat Struct Mol Biol , vol.12 , pp. 708-714
    • Raasi, S.1    Varadan, R.2    Fushman, D.3    Pickart, C.M.4
  • 29
    • 0037646406 scopus 로고    scopus 로고
    • Rad23 ubiquitin-associated domains (UBA) inhibit 26 S proteasome-catalyzed proteolysis by sequestering lysine 48-linked polyubiquitin chains
    • Raasi S, Pickart CM (2003) Rad23 ubiquitin-associated domains (UBA) inhibit 26 S proteasome-catalyzed proteolysis by sequestering lysine 48-linked polyubiquitin chains. J Biol Chem 278:8951-8959
    • (2003) J Biol Chem , vol.278 , pp. 8951-8959
    • Raasi, S.1    Pickart, C.M.2
  • 30
    • 0242300114 scopus 로고    scopus 로고
    • DNA-repair protein hHR23a alters its protein structure upon binding proteasomal subunit S5a
    • USA
    • Walters KJ, Lech PJ, Goh AM, Wang Q, Howley PM (2003) DNA-repair protein hHR23a alters its protein structure upon binding proteasomal subunit S5a. Proc Natl Acad Sci USA 100:12694-12699
    • (2003) Proc Natl Acad Sci , vol.100 , pp. 12694-12699
    • Walters, K.J.1    Lech, P.J.2    Goh, A.M.3    Wang, Q.4    Howley, P.M.5
  • 31
    • 8744284437 scopus 로고    scopus 로고
    • Solution structure of the flexible class II ubiquitin-conjugating enzyme Ubc1 provides insights for polyubiquitin chain assembly
    • Merkley N, Shaw GS (2004) Solution structure of the flexible class II ubiquitin-conjugating enzyme Ubc1 provides insights for polyubiquitin chain assembly. J Biol Chem 279:47139-47147
    • (2004) J Biol Chem , vol.279 , pp. 47139-47147
    • Merkley, N.1    Shaw, G.S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.