메뉴 건너뛰기




Volumn 67, Issue 4, 2006, Pages 644-651

Valosin-containing protein gene mutations: Clinical and neuropathologic features

Author keywords

[No Author keywords available]

Indexed keywords

UBIQUITIN; UNCLASSIFIED DRUG; VALOSIN CONTAINING PROTEIN;

EID: 33746926801     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000225184.14578.d3     Document Type: Article
Times cited : (129)

References (30)
  • 1
    • 18244381306 scopus 로고    scopus 로고
    • Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: Hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia
    • Kovach MJ, Waggoner B, Leal SM, et al. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Mol Genet Metab 2001;74:458-475.
    • (2001) Mol Genet Metab , vol.74 , pp. 458-475
    • Kovach, M.J.1    Waggoner, B.2    Leal, S.M.3
  • 2
    • 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 GD, Wymer J, Kovach MJ, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet 2004;36:377-381.
    • (2004) Nat Genet , vol.36 , pp. 377-381
    • Watts, G.D.1    Wymer, J.2    Kovach, M.J.3
  • 3
    • 0034502514 scopus 로고    scopus 로고
    • Structure of the AAA ATPase p97
    • Zhang X, Shaw A, Bates PA, et al. Structure of the AAA ATPase p97. Mol Cell 2000;6:1473-1484.
    • (2000) Mol Cell , vol.6 , pp. 1473-1484
    • Zhang, X.1    Shaw, A.2    Bates, P.A.3
  • 4
    • 0035818999 scopus 로고    scopus 로고
    • The AAA ATPase Cdc48/p97 and its partners transport proteins from the ER into the cytosol
    • Ye Y, Meyer HH, Rapoport TA. The AAA ATPase Cdc48/p97 and its partners transport proteins from the ER into the cytosol. Nature 2001;414:652-656.
    • (2001) Nature , vol.414 , pp. 652-656
    • Ye, Y.1    Meyer, H.H.2    Rapoport, T.A.3
  • 5
    • 8544263881 scopus 로고    scopus 로고
    • AAA ATPase p97/valosin-containing protein interacts with gp78, a ubiquitin ligase for endoplasmic reticulum-associated degradation
    • Zhong X, Shen Y, Ballar P, Apostolou A, Agami R, Fang S. AAA ATPase p97/valosin-containing protein interacts with gp78, a ubiquitin ligase for endoplasmic reticulum-associated degradation. J Biol Chem 2004;279:45676-45684.
    • (2004) J Biol Chem , vol.279 , pp. 45676-45684
    • Zhong, X.1    Shen, Y.2    Ballar, P.3    Apostolou, A.4    Agami, R.5    Fang, S.6
  • 6
    • 0034907973 scopus 로고    scopus 로고
    • Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin-proteasome degradation
    • Dai RM, Li CC. Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin-proteasome degradation. Nat Cell Biol 2001;3:740-744.
    • (2001) Nat Cell Biol , vol.3 , pp. 740-744
    • Dai, R.M.1    Li, C.C.2
  • 7
    • 0034772572 scopus 로고    scopus 로고
    • VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegeneration
    • Hirabayashi M, Inoue K, Tanaka K, et al. VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegeneration. Cell Death Differ 2001;8:977-984.
    • (2001) Cell Death Differ , vol.8 , pp. 977-984
    • Hirabayashi, M.1    Inoue, K.2    Tanaka, K.3
  • 8
    • 0347298790 scopus 로고    scopus 로고
    • Functional ATPase activity of p97/valosin-containing protein (VCP) is required for the quality control of endoplasmic reticulum in neuronally differentiated mammalian PC12 cells
    • Kobayashi T, Tanaka K, Inoue K, Kakizuka A. Functional ATPase activity of p97/valosin-containing protein (VCP) is required for the quality control of endoplasmic reticulum in neuronally differentiated mammalian PC12 cells. J Biol Chem 2002;277:47358-47365.
    • (2002) J Biol Chem , vol.277 , pp. 47358-47365
    • Kobayashi, T.1    Tanaka, K.2    Inoue, K.3    Kakizuka, A.4
  • 9
    • 18544394748 scopus 로고    scopus 로고
    • RNA interference of valosin-containing protein (VCP/p97) reveals multiple cellular roles linked to ubiquitin/proteasome-dependent proteolysis
    • Wojcik C, Yano M, DeMartino GN. RNA interference of valosin-containing protein (VCP/p97) reveals multiple cellular roles linked to ubiquitin/ proteasome-dependent proteolysis. J Cell Sci 2004;117:281-292.
    • (2004) J Cell Sci , vol.117 , pp. 281-292
    • Wojcik, C.1    Yano, M.2    DeMartino, G.N.3
  • 10
    • 0030958347 scopus 로고    scopus 로고
    • The Neuropsychiatric Inventory: Assessing psychopathology in dementia patients
    • Cummings JL. The Neuropsychiatric Inventory: assessing psychopathology in dementia patients. Neurology 1997;48:S10-6.
    • (1997) Neurology , vol.48
    • Cummings, J.L.1
  • 11
    • 0031048521 scopus 로고    scopus 로고
    • Frontal behavioral inventory: Diagnostic criteria for frontal lobe dementia
    • Kertesz A, Davidson W, Fox H. Frontal behavioral inventory: diagnostic criteria for frontal lobe dementia. Can J Neurol Sci 1997;24:29-36.
    • (1997) Can J Neurol Sci , vol.24 , pp. 29-36
    • Kertesz, A.1    Davidson, W.2    Fox, H.3
  • 12
    • 0016823810 scopus 로고
    • "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician
    • Folstein MF, Folstein SE, McHugh PR. "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975;12:189-198.
    • (1975) J Psychiatr Res , vol.12 , pp. 189-198
    • Folstein, M.F.1    Folstein, S.E.2    McHugh, P.R.3
  • 13
    • 0028245781 scopus 로고
    • The Mattis Dementia Rating Scale: Normative data from 1,001 healthy volunteers
    • Schmidt R, Freidl W, Fazekas F, et al. The Mattis Dementia Rating Scale: normative data from 1,001 healthy volunteers. Neurology 1994;44:964-966.
    • (1994) Neurology , vol.44 , pp. 964-966
    • Schmidt, R.1    Freidl, W.2    Fazekas, F.3
  • 14
    • 45749146772 scopus 로고
    • Genuine memory deficits in dementia
    • Grober E, Buschke H. Genuine memory deficits in dementia. Dev Neuropsychol 1987;3:13-36.
    • (1987) Dev Neuropsychol , vol.3 , pp. 13-36
    • Grober, E.1    Buschke, H.2
  • 15
    • 0003442533 scopus 로고
    • Forme 1. Paris: Edition du Centre de Psychologie Appliquée;
    • Wechsler D. Echelle Clinique de Mémoire. Forme 1. Paris: Edition du Centre de Psychologie Appliquée; 1970.
    • (1970) Echelle Clinique de Mémoire
    • Wechsler, D.1
  • 17
    • 0025549363 scopus 로고
    • Formal and semantic lexical evocation in normal subjects. Performance and dynamics of production as a function of sex, age and educational level
    • Cardebat D, Doyon B, Puel M, Goulet P, Joanette Y. Formal and semantic lexical evocation in normal subjects. Performance and dynamics of production as a function of sex, age and educational level. Acta Neurol Belg 1990;90:207-217.
    • (1990) Acta Neurol Belg , vol.90 , pp. 207-217
    • Cardebat, D.1    Doyon, B.2    Puel, M.3    Goulet, P.4    Joanette, Y.5
  • 18
    • 33747662817 scopus 로고    scopus 로고
    • Paris: Edition du Centre de Psychologie Appliquée;
    • Deloche G, Hannequin D. DO80. Paris: Edition du Centre de Psychologie Appliquée; 1997.
    • (1997) DO80
    • Deloche, G.1    Hannequin, D.2
  • 19
    • 0034642168 scopus 로고    scopus 로고
    • The FAB: A Frontal Assessment Battery at bedside
    • Dubois B, Slachevsky A, Litvan I, Pillon B. The FAB: a Frontal Assessment Battery at bedside. Neurology 2000;55:1621-1626.
    • (2000) Neurology , vol.55 , pp. 1621-1626
    • Dubois, B.1    Slachevsky, A.2    Litvan, I.3    Pillon, B.4
  • 20
    • 0017033821 scopus 로고
    • A modified card sorting test sensitive to frontal lobe defects
    • Nelson HE. A modified card sorting test sensitive to frontal lobe defects. Cortex 1976;12:313-324.
    • (1976) Cortex , vol.12 , pp. 313-324
    • Nelson, H.E.1
  • 21
    • 4344688683 scopus 로고    scopus 로고
    • A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: Phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24
    • Le Ber I, Martinez M, Campion D, et al. A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24. Brain 2004;127:1979-1992.
    • (2004) Brain , vol.127 , pp. 1979-1992
    • Le Ber, I.1    Martinez, M.2    Campion, D.3
  • 22
    • 0038155122 scopus 로고    scopus 로고
    • Alzheimer's associated variant ubiquitin causes inhibition of the 26S proteasome and chaperone expression
    • Hope AD, de Silva R, Fischer DF, Hol EM, Van Leuween FW, Lees AJ. Alzheimer's associated variant ubiquitin causes inhibition of the 26S proteasome and chaperone expression. J Neurochem 2003;86:394-404.
    • (2003) J Neurochem , vol.86 , pp. 394-404
    • Hope, A.D.1    De Silva, R.2    Fischer, D.F.3    Hol, E.M.4    Van Leuween, F.W.5    Lees, A.J.6
  • 23
    • 0025278909 scopus 로고
    • Ubiquitin immunoreactive structures in normal human brains
    • Dickson DW, Wertkin A, Kress Y, et al. Ubiquitin immunoreactive structures in normal human brains. Lab Invest 1990;63:87-99.
    • (1990) Lab Invest , vol.63 , pp. 87-99
    • Dickson, D.W.1    Wertkin, A.2    Kress, Y.3
  • 24
    • 0031672540 scopus 로고    scopus 로고
    • Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
    • Neary D, Snowden JS, Gustafson L, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998;51:1546-1554.
    • (1998) Neurology , vol.51 , pp. 1546-1554
    • Neary, D.1    Snowden, J.S.2    Gustafson, L.3
  • 25
    • 16644380378 scopus 로고    scopus 로고
    • RNA interference of VCP/p97 increases Mallory body formation
    • Nan L, Wu Y, Bardag-Gorce F, et al. RNA interference of VCP/p97 increases Mallory body formation. Exp Mol Pathol 2005;78:1-9.
    • (2005) Exp Mol Pathol , vol.78 , pp. 1-9
    • Nan, L.1    Wu, Y.2    Bardag-Gorce, F.3
  • 26
    • 0031924815 scopus 로고    scopus 로고
    • Dementia of frontal type and dementias with subcortical gliosis
    • Mann DM. Dementia of frontal type and dementias with subcortical gliosis. Brain Pathol 1998;8:325-338.
    • (1998) Brain Pathol , vol.8 , pp. 325-338
    • Mann, D.M.1
  • 27
    • 20044373638 scopus 로고    scopus 로고
    • Mutant valosin-containing protein causes a novel type of frontotemporal dementia
    • Schröder R, Watts GD, Mehta SG, et al. Mutant valosin-containing protein causes a novel type of frontotemporal dementia. Ann Neurol 2005;57:457-461.
    • (2005) Ann Neurol , vol.57 , pp. 457-461
    • Schröder, R.1    Watts, G.D.2    Mehta, S.G.3
  • 28
    • 0036349463 scopus 로고    scopus 로고
    • The Mallory body as an aggresome: In vitro studies
    • Riley NE, Li J, Worrall S, et al. The Mallory body as an aggresome: in vitro studies. Exp Mol Pathol 2002;72:17-23.
    • (2002) Exp Mol Pathol , vol.72 , pp. 17-23
    • Riley, N.E.1    Li, J.2    Worrall, S.3
  • 29
    • 23844549677 scopus 로고    scopus 로고
    • Golgi reassembly after mitosis: The AAA family meets the ubiquitin family
    • Meyer HH. Golgi reassembly after mitosis: The AAA family meets the ubiquitin family. Biochim Biophys Acta 2005;1744:108-119.
    • (2005) Biochim Biophys Acta , vol.1744 , pp. 108-119
    • Meyer, H.H.1
  • 30
    • 18244387009 scopus 로고    scopus 로고
    • Pre-processed caspase-9 contained in mitochondria participates in apoptosis
    • Costantini P, Bruey JM, Castedo M, et al. Pre-processed caspase-9 contained in mitochondria participates in apoptosis. Cell Death Differ 2002;9:82-88.
    • (2002) Cell Death Differ , vol.9 , pp. 82-88
    • Costantini, P.1    Bruey, J.M.2    Castedo, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.