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Volumn 19, Issue 9, 2010, Pages 1741-1755

Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P97; TAR DNA BINDING PROTEIN; VALOSIN CONTAINING PROTEIN;

EID: 77952486387     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq050     Document Type: Article
Times cited : (164)

References (56)
  • 1
    • 0034532113 scopus 로고    scopus 로고
    • Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone
    • Kimonis, V.E., Kovach, M.J., Waggoner, B., Leal, S., Salam, A., Rimer, L., Davis, K., Khardori, R. and Gelber, D. (2000) Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genet. Med., 2, 232-241.
    • (2000) Genet. Med. , vol.2 , pp. 232-241
    • Kimonis, V.E.1    Kovach, M.J.2    Waggoner, B.3    Leal, S.4    Salam, A.5    Rimer, L.6    Davis, K.7    Khardori, R.8    Gelber, D.9
  • 3
    • 1842483843 scopus 로고    scopus 로고
    • Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
    • Watts, G.D., Wymer, J., Kovach, M.J., Mehta, S.G., Mumm, S., Darvish, D., Pestronk, A., Whyte, M.P. and Kimonis, V.E. (2004) Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat. Genet., 36, 377-381.
    • (2004) Nat. Genet. , vol.36 , pp. 377-381
    • Watts, G.D.1    Wymer, J.2    Kovach, M.J.3    Mehta, S.G.4    Mumm, S.5    Darvish, D.6    Pestronk, A.7    Whyte, M.P.8    Kimonis, V.E.9
  • 5
    • 37749041902 scopus 로고    scopus 로고
    • An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene
    • Gidaro, T., Modoni, A., Sabatelli, M., Tasca, G., Broccolini, A. and Mirabella, M. (2008) An Italian family with inclusion-body myopathy and 1754 Human Molecular Genetics, 2010, Vol. 19, No. 9 frontotemporal dementia due to mutation in the VCP gene. Muscle Nerve, 37, 111-114.
    • (2008) Muscle Nerve , vol.37 , pp. 111-114
    • Gidaro, T.1    Modoni, A.2    Sabatelli, M.3    Tasca, G.4    Broccolini, A.5    Mirabella, M.6
  • 7
    • 45149119899 scopus 로고    scopus 로고
    • Inclusion body myopathy Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling
    • Viassolo, V., Previtali, S.C., Schiatti, E., Magnani, G., Minetti, C., Zara, F., Grasso, M., Dagna-Bricarelli, F. and Di Maria, E. (2008) Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling. Clin. Genet., 74, 54-60.
    • (2008) Clin. Genet. , vol.74 , pp. 54-60
    • Viassolo, V.1    Previtali, S.C.2    Schiatti, E.3    Magnani, G.4    Minetti, C.5    Zara, F.6    Grasso, M.7    Dagna-Bricarelli, F.8    Di Maria, E.9
  • 8
    • 62849091775 scopus 로고    scopus 로고
    • A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia
    • Djamshidian, A., Schaefer, J., Haubenberger, D., Stogmann, E., Zimprich, F., Auff, E. and Zimprich, A. (2009) A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia. Muscle Nerve, 39, 389-391.
    • (2009) Muscle Nerve , vol.39 , pp. 389-391
    • Djamshidian, A.1    Schaefer, J.2    Haubenberger, D.3    Stogmann, E.4    Zimprich, F.5    Auff, E.6    Zimprich, A.7
  • 10
    • 67349090057 scopus 로고    scopus 로고
    • Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia
    • Weihl, C.C., Pestronk, A. and Kimonis, V.E. (2009) Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia. Neuromuscul. Disord., 19, 308-315.
    • (2009) Neuromuscul. Disord. , vol.19 , pp. 308-315
    • Weihl, C.C.1    Pestronk, A.2    Kimonis, V.E.3
  • 11
    • 39449116598 scopus 로고    scopus 로고
    • Roles of VCP in human neurodegenerative disorders
    • Kakizuka, A. (2008) Roles of VCP in human neurodegenerative disorders. Biochem. Soc. Trans., 36, 105-108.
    • (2008) Biochem. Soc. Trans. , vol.36 , pp. 105-108
    • Kakizuka, A.1
  • 13
    • 77952533111 scopus 로고    scopus 로고
    • VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD
    • Tresse, E., Salomons, F.A., Vesa, J., Bott, L.C., Kimonis, V., Yao, T.P., Dantuma, N.P. and Taylor, J.P. VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD. Autophagy, 6, 217-227.
    • (2010) Autophagy , vol.6 , pp. 217-227
    • Tresse, E.1    Salomons, F.A.2    Vesa, J.3    Bott, L.C.4    Kimonis, V.5    Yao, T.P.6    Dantuma, N.P.7    Taylor, J.P.8
  • 14
    • 34447098604 scopus 로고    scopus 로고
    • Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy
    • Guinto, J.B., Ritson, G.P., Taylor, J.P. and Forman, M.S. (2007) Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy. Acta. Neuropathol., 114, 55-61.
    • (2007) Acta. Neuropathol. , vol.114 , pp. 55-61
    • Guinto, J.B.1    Ritson, G.P.2    Taylor, J.P.3    Forman, M.S.4
  • 16
    • 34447093377 scopus 로고    scopus 로고
    • Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice
    • Weihl, C.C., Miller, S.E., Hanson, P.I. and Pestronk, A. (2007) Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice. Hum. Mol. Genet., 16, 919-928.
    • (2007) Hum. Mol. Genet. , vol.16 , pp. 919-928
    • Weihl, C.C.1    Miller, S.E.2    Hanson, P.I.3    Pestronk, A.4
  • 17
    • 0242288063 scopus 로고    scopus 로고
    • Ectopic bone formation by human bone morphogenetic protein-2 gene transfer to skeletal muscle using transcutaneous electroporation
    • Kawai, M., Bessho, K., Kaihara, S., Sonobe, J., Oda, K., Iizuka, T. and Maruyama, H. (2003) Ectopic bone formation by human bone morphogenetic protein-2 gene transfer to skeletal muscle using transcutaneous electroporation. Hum. Gene. Ther., 14, 1547-1556.
    • (2003) Hum. Gene. Ther. , vol.14 , pp. 1547-1556
    • Kawai, M.1    Bessho, K.2    Kaihara, S.3    Sonobe, J.4    Oda, K.5    Iizuka, T.6    Maruyama, H.7
  • 19
    • 0035124724 scopus 로고    scopus 로고
    • Transgene overexpression of alphaB crystallin confers simultaneous protection against cardiomyocyte apoptosis and necrosis during myocardial ischemia and reperfusion
    • Ray, P.S., Martin, J.L., Swanson, E.A., Otani, H., Dillmann, W.H. and Das, D.K. (2001) Transgene overexpression of alphaB crystallin confers simultaneous protection against cardiomyocyte apoptosis and necrosis during myocardial ischemia and reperfusion. FASEB. J., 15, 393-402
    • (2001) FASEB. J. , vol.15 , pp. 393-402
    • Ray, P.S.1    Martin, J.L.2    Swanson, E.A.3    Otani, H.4    Dillmann, W.H.5    Das, D.K.6
  • 21
    • 0033614772 scopus 로고    scopus 로고
    • Transgenic mice expressing mutated full-length HD cDNA: a paradigm for locomotor changes and selective neuronal loss in Huntington's disease
    • Reddy, P.H., Charles, V., Williams, M., Miller, G., Whetsell, W.O. Jr and Tagle, D.A. (1999) Transgenic mice expressing mutated full-length HD cDNA: a paradigm for locomotor changes and selective neuronal loss in Huntington's disease. Philos. Trans. R. Soc. Lond. B. Biol. Sci., 354, 1035-1045.
    • (1999) Philos. Trans. R. Soc. Lond. B. Biol. Sci. , vol.354 , pp. 1035-1045
    • Reddy, P.H.1    Charles, V.2    Williams, M.3    Miller, G.4    Whetsell W.O., Jr.5    Tagle, D.A.6
  • 23
  • 24
    • 69749113154 scopus 로고    scopus 로고
    • Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy
    • Broccolini, A., Gidaro, T., Morosetti, R. and Mirabella, M. (2009) Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy. Muscle Nerve, 40, 340-349.
    • (2009) Muscle Nerve , vol.40 , pp. 340-349
    • Broccolini, A.1    Gidaro, T.2    Morosetti, R.3    Mirabella, M.4
  • 25
    • 66449134941 scopus 로고    scopus 로고
    • VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death
    • Gitcho, M.A., Strider, J., Carter, D., Taylor-Reinwald, L., Forman, M.S., Goate, A.M. and Cairns, N.J. (2009) VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death. J. Biol. Chem., 284, 12384-12398.
    • (2009) J. Biol. Chem. , vol.284 , pp. 12384-12398
    • Gitcho, M.A.1    Strider, J.2    Carter, D.3    Taylor-Reinwald, L.4    Forman, M.S.5    Goate, A.M.6    Cairns, N.J.7
  • 27
    • 44649176937 scopus 로고    scopus 로고
    • Protein quality control gets muscle into shape
    • Kim, J., Lowe, T. and Hoppe, T. (2008) Protein quality control gets muscle into shape. Trends. Cell. Biol., 18, 264-272.
    • (2008) Trends. Cell. Biol. , vol.18 , pp. 264-272
    • Kim, J.1    Lowe, T.2    Hoppe, T.3
  • 28
    • 33847392824 scopus 로고    scopus 로고
    • The myosin co-chaperone UNC-45 is required for skeletal and cardiac muscle function in zebrafish
    • Wohlgemuth, S.L., Crawford, B.D. and Pilgrim, D.B. (2007) The myosin co-chaperone UNC-45 is required for skeletal and cardiac muscle function in zebrafish. Dev. Biol., 303, 483-492.
    • (2007) Dev. Biol. , vol.303 , pp. 483-492
    • Wohlgemuth, S.L.1    Crawford, B.D.2    Pilgrim, D.B.3
  • 32
    • 26244453388 scopus 로고    scopus 로고
    • Exploratory activity and spatial learning in 12-month-old APP(695)SWE/co+PS1/DeltaE9 mice with amyloid plaques
    • 33
    • Lalonde, R., Kim, H.D., Maxwell, J.A. and Fukuchi, K. (2005) Exploratory activity and spatial learning in 12-month-old APP(695)SWE/co+PS1/DeltaE9 mice with amyloid plaques. Neurosci. Lett., 390, 87-92. 33.
    • (2005) Neurosci. Lett. , vol.390 , pp. 87-92
    • Lalonde, R.1    Kim, H.D.2    Maxwell, J.A.3    Fukuchi, K.4
  • 34
    • 0033858624 scopus 로고    scopus 로고
    • Behavior and mutagenesis screens: the importance of baseline analysis of inbred strains
    • Tarantino, L.M., Gould, T.J., Druhan, J.P. and Bucan, M. (2000) Behavior and mutagenesis screens: the importance of baseline analysis of inbred strains. Mamm. Genome, 11, 555-564.
    • (2000) Mamm. Genome , vol.11 , pp. 555-564
    • Tarantino, L.M.1    Gould, T.J.2    Druhan, J.P.3    Bucan, M.4
  • 39
    • 34247874843 scopus 로고    scopus 로고
    • Contribution of genetic factors to the pathogenesis of Paget's disease of bone and related disorders
    • Lucas, G.J., Daroszewska, A. and Ralston, S.H. (2006) Contribution of genetic factors to the pathogenesis of Paget's disease of bone and related disorders. J. Bone. Miner. Res., 21 (Suppl. 2), P31-P37.
    • (2006) J. Bone. Miner. Res. , vol.21 , Issue.SUPPL. 2
    • Lucas, G.J.1    Daroszewska, A.2    Ralston, S.H.3
  • 40
    • 33745224935 scopus 로고    scopus 로고
    • p97: The cell's molecular purgatory? Mol
    • Halawani, D. and Latterich, M. (2006) p97: The cell's molecular purgatory? Mol. Cell., 22, 713-717.
    • (2006) Cell , vol.22 , pp. 713-717
    • Halawani, D.1    Latterich, M.2
  • 41
    • 15444361471 scopus 로고    scopus 로고
    • Involvement of valosin-containing protein, an ATPase Co-purified with IkappaBalpha and 26 S proteasome, in ubiquitin-proteasome-mediated degradation of IkappaBalpha
    • Dai, R.M., Chen, E., Longo, D.L., Gorbea, C.M. and Li, C.C. (1998) Involvement of valosin-containing protein, an ATPase Co-purified with IkappaBalpha and 26 S proteasome, in ubiquitin-proteasome-mediated degradation of IkappaBalpha. J. Biol. Chem., 273, 3562-3573.
    • (1998) J. Biol. Chem. , vol.273 , pp. 3562-3573
    • Dai, R.M.1    Chen, E.2    Longo, D.L.3    Gorbea, C.M.4    Li, C.C.5
  • 42
    • 0036240410 scopus 로고    scopus 로고
    • VCP (p97) regulates NFkappaB signaling pathway, which is important for metastasis of osteosarcoma cell line
    • Asai, T., Tomita, Y., Nakatsuka, S., Hoshida, Y., Myoui, A., Yoshikawa, H. and Aozasa, K. (2002) VCP (p97) regulates NFkappaB signaling pathway, which is important for metastasis of osteosarcoma cell line. Jpn. J. Cancer Res., 93, 296-304.
    • (2002) Jpn. J. Cancer Res. , vol.93 , pp. 296-304
    • Asai, T.1    Tomita, Y.2    Nakatsuka, S.3    Hoshida, Y.4    Myoui, A.5    Yoshikawa, H.6    Aozasa, K.7
  • 47
    • 70349101680 scopus 로고    scopus 로고
    • 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, S.L., Walsh, J.P., Ward, L., Magno, A.L., Ward, B.K., Shaw, B., Layfield, R., Kent, G.N., Xu, J. and Ratajczak, T. (2009) 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. J. Bone Miner. Res., 24, 1216-1223.
    • (2009) J. Bone Miner. Res. , vol.24 , pp. 1216-1223
    • Rea, S.L.1    Walsh, J.P.2    Ward, L.3    Magno, A.L.4    Ward, B.K.5    Shaw, B.6    Layfield, R.7    Kent, G.N.8    Xu, J.9    Ratajczak, T.10
  • 48
    • 70349764552 scopus 로고    scopus 로고
    • The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts
    • Chamoux, E., Couture, J., Bisson, M., Morissette, J., Brown, J.P. and Roux, S. (2009) The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts. Mol. Endocrinol., 23, 1668-1680.
    • (2009) Mol. Endocrinol. , vol.23 , pp. 1668-1680
    • Chamoux, E.1    Couture, J.2    Bisson, M.3    Morissette, J.4    Brown, J.P.5    Roux, S.6
  • 49
    • 53949103308 scopus 로고    scopus 로고
    • Skeletal muscle diseases, inflammation, and NF-kappaB signaling: insights and opportunities for therapeutic intervention
    • Peterson, J.M. and Guttridge, D.C. (2008) Skeletal muscle diseases, inflammation, and NF-kappaB signaling: insights and opportunities for therapeutic intervention. Int. Rev. Immunol., 27, 375-387. Human Molecular Genetics, 2010, Vol. 19, No. 9 1755
    • Int. Rev. Immunol. , vol.27 , pp. 375-387
    • Peterson, J.M.1    Guttridge, D.C.2
  • 53
    • 14644415865 scopus 로고    scopus 로고
    • Nucleotide dependent motion and mechanism of action of p97/VCP
    • DeLaBarre, B. and Brunger, A.T. (2005) Nucleotide dependent motion and mechanism of action of p97/VCP. J. Mol. Biol., 347, 437-452.
    • (2005) J. Mol. Biol. , vol.347 , pp. 437-452
    • DeLaBarre, B.1    Brunger, A.T.2
  • 54
    • 68949098348 scopus 로고    scopus 로고
    • Hereditary inclusion body myopathy-linked p97/VCP mutations in the NH2 domain and the D1 ring modulate p97/VCP ATPase activity and D2 ring conformation
    • Halawani, D., LeBlanc, A.C., Rouiller, I., Michnick, S.W., Servant, M.J. and Latterich, M. (2009) Hereditary inclusion body myopathy-linked p97/VCP mutations in the NH2 domain and the D1 ring modulate p97/VCP ATPase activity and D2 ring conformation. Mol. Cell. Biol., 29, 4484-4494.
    • (2009) Mol. Cell. Biol. , vol.29 , pp. 4484-4494
    • Halawani, D.1    LeBlanc, A.C.2    Rouiller, I.3    Michnick, S.W.4    Servant, M.J.5    Latterich, M.6
  • 55
    • 0033569756 scopus 로고    scopus 로고
    • beta-TrCP mediates the signal-induced ubiquitination of IkappaBbeta
    • Wu, C. and Ghosh, S. (1999) beta-TrCP mediates the signal-induced ubiquitination of IkappaBbeta. J. Biol. Chem., 274, 29591-29594.
    • (1999) J. Biol. Chem. , vol.274 , pp. 29591-29594
    • Wu, C.1    Ghosh, S.2


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