메뉴 건너뛰기




Volumn 109, Issue 4, 2005, Pages 355-364

Molecular genetic pathways in Parkinson's disease: A review

Author keywords

synuclein; Dardarin; Genetic basis; Lewy body; Mendelian genetics; Parkin; Parkinson's disease

Indexed keywords

ALPHA SYNUCLEIN; DJ 1 PROTEIN; GLUCOSYLCERAMIDASE; LEUCINE RICH REPEAT KINASE 2; NR4A2 PROTEIN; PARKIN; PINK1 PROTEIN; PROTEIN; SYNPHILIN 1 PROTEIN; UCHL 1 PROTEIN; UNCLASSIFIED DRUG;

EID: 26844555183     PISSN: 01435221     EISSN: None     Source Type: Journal    
DOI: 10.1042/CS20050106     Document Type: Review
Times cited : (38)

References (126)
  • 1
    • 0037246310 scopus 로고    scopus 로고
    • Systematic review of incidence studies of Parkinson's disease
    • Twelves, D., Perkins, K. S. and Counsell, C. (2003) Systematic review of incidence studies of Parkinson's disease. Mov. Disord. 18, 19-31
    • (2003) Mov. Disord. , vol.18 , pp. 19-31
    • Twelves, D.1    Perkins, K.S.2    Counsell, C.3
  • 3
    • 26844513413 scopus 로고
    • Nature et pathogenic de la maladie de Parkinson
    • Masson, Paris
    • Brissaud, E. (1895) Nature et pathogenic de la maladie de Parkinson. In Leçons sur les Malades Nerveuses, pp. 488-501 Masson, Paris
    • (1895) Leçons Sur Les Malades Nerveuses , pp. 488-501
    • Brissaud, E.1
  • 4
    • 0006599646 scopus 로고
    • The L-dihydroxyphenylalanine (L-DOPA) effect in Parkinson's syndrome in man: On the pathogenesis and treatment of Parkinson akinesis
    • Birkmayer, W. and Hornykiewicz, O. (1962) The L-dihydroxyphenylalanine (L-DOPA) effect in Parkinson's syndrome in man: on the pathogenesis and treatment of Parkinson akinesis. Arch. Psychiatry Nervenkrankh. 203, 560-574
    • (1962) Arch. Psychiatry Nervenkrankh. , vol.203 , pp. 560-574
    • Birkmayer, W.1    Hornykiewicz, O.2
  • 5
    • 0020680904 scopus 로고
    • Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis
    • Langston, J. W., Ballard, P., Tetrud, J. W. and Irwin, I. (1983) Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis. Science 219, 979-980
    • (1983) Science , vol.219 , pp. 979-980
    • Langston, J.W.1    Ballard, P.2    Tetrud, J.W.3    Irwin, I.4
  • 6
    • 11144227968 scopus 로고    scopus 로고
    • Risk and protective factors for Parkinson's disease. A study in Swedish twins
    • Wirdefeldt, K., Gatz, M., Pawitan, Y. and Pedersen, N. L. (2005) Risk and protective factors for Parkinson's disease. A study in Swedish twins. Ann. Neurol. 57, 27-33
    • (2005) Ann. Neurol. , vol.57 , pp. 27-33
    • Wirdefeldt, K.1    Gatz, M.2    Pawitan, Y.3    Pedersen, N.L.4
  • 8
    • 0030744876 scopus 로고    scopus 로고
    • Mutation in α-synuclein gene identified in families with Parkinson's disease
    • Polymeropoulos, M. H., Lavedan, C., Leroy, E. et al. (1997) Mutation in α-synuclein gene identified in families with Parkinson's disease. Science 276, 2045-2047
    • (1997) Science , vol.276 , pp. 2045-2047
    • Polymeropoulos, M.H.1    Lavedan, C.2    Leroy, E.3
  • 9
    • 0032499264 scopus 로고    scopus 로고
    • Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
    • Kitada, T., Asakawa, S., Hattori, N. et al. (1998) Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature (London) 392, 605-608
    • (1998) Nature (London) , vol.392 , pp. 605-608
    • Kitada, T.1    Asakawa, S.2    Hattori, N.3
  • 10
    • 0037428241 scopus 로고    scopus 로고
    • Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
    • Bonifati, V., Rizzu, P., van Baren, M. J. et al. (2003) Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299, 256-259
    • (2003) Science , vol.299 , pp. 256-259
    • Bonifati, V.1    Rizzu, P.2    Van Baren, M.J.3
  • 11
    • 2442668926 scopus 로고    scopus 로고
    • Hereditary early onset Parkinson's disease is caused by mutations in PINK1
    • Valente, E. M., Abou-Sleiman, P. M., Caputo, V. et al. (2004) Hereditary early onset Parkinson's disease is caused by mutations in PINK1. Science 304, 1158-1160
    • (2004) Science , vol.304 , pp. 1158-1160
    • Valente, E.M.1    Abou-Sleiman, P.M.2    Caputo, V.3
  • 12
    • 8844266996 scopus 로고    scopus 로고
    • Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
    • Paisán-Rui'z, C., Jain, S., Evans, E. W. et al. (2004) Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 18, 595-600
    • (2004) Neuron , vol.18 , pp. 595-600
    • Paisán-RuI'Z, C.1    Jain, S.2    Evans, E.W.3
  • 13
    • 8844233579 scopus 로고    scopus 로고
    • Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
    • Zimprich, A., Biskup, S., Leitner, P. et al. (2004) Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 18, 601-607
    • (2004) Neuron , vol.18 , pp. 601-607
    • Zimprich, A.1    Biskup, S.2    Leitner, P.3
  • 14
    • 0032190090 scopus 로고
    • The ubiquitin pathway in Parkinson's disease
    • Leroy, E., Boyer, R., Auburger, G. et al. (1988) The ubiquitin pathway in Parkinson's disease. Nature (London) 395, 451-452
    • (1988) Nature (London) , vol.395 , pp. 451-452
    • Leroy, E.1    Boyer, R.2    Auburger, G.3
  • 15
    • 0037226797 scopus 로고    scopus 로고
    • Mutations in NR4A2 associated with familial Parkinson disease
    • Le, W. D., Xu, P., Jankovic, J. et al. (2003) Mutations in NR4A2 associated with familial Parkinson disease. Nat. Genet. 33, 85-89
    • (2003) Nat. Genet. , vol.33 , pp. 85-89
    • Le, W.D.1    Xu, P.2    Jankovic, J.3
  • 16
    • 12444281013 scopus 로고    scopus 로고
    • Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease
    • Marx, E P., Holzmann, C., Strauss, K. M. et al. (2003) Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease. Hum. Mol. Genet. 12, 1223-1231
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 1223-1231
    • Marx, E.P.1    Holzmann, C.2    Strauss, K.M.3
  • 17
    • 0345119026 scopus 로고    scopus 로고
    • Caught in the act: α-synuclein is the culprit in Parkinson's disease
    • Eriksen, J. L., Dawson, T. M., Dickson, D. W. and Petrucelli, L. (2003) Caught in the act: α-synuclein is the culprit in Parkinson's disease. Neuron 40, 453-456
    • (2003) Neuron , vol.40 , pp. 453-456
    • Eriksen, J.L.1    Dawson, T.M.2    Dickson, D.W.3    Petrucelli, L.4
  • 18
    • 4043079949 scopus 로고    scopus 로고
    • Mitochondria and dopamine; new insights into recessive Parkinsonism
    • Shen, J. and Cookson, M. R. (2004) Mitochondria and dopamine; new insights into recessive Parkinsonism. Neuron 43, 301-304
    • (2004) Neuron , vol.43 , pp. 301-304
    • Shen, J.1    Cookson, M.R.2
  • 19
    • 1542300954 scopus 로고    scopus 로고
    • Diagnostic considerations in juvenile parkinsonism
    • Paviour, D. C., Surtees, R. A. and Lees, A. J. (2004) Diagnostic considerations in juvenile parkinsonism. Mov. Disord. 19, 123-135
    • (2004) Mov. Disord. , vol.19 , pp. 123-135
    • Paviour, D.C.1    Surtees, R.A.2    Lees, A.J.3
  • 20
    • 5644228612 scopus 로고    scopus 로고
    • PINK, PANK, or PARK? A clinicians' guide to familial parkinsonism
    • Healy, D. G., Abou-Sleiman, P. M. and Wood, N. W. (2004) PINK, PANK, or PARK? A clinicians' guide to familial parkinsonism. Lancet Neurol. 3, 652-662
    • (2004) Lancet Neurol. , vol.3 , pp. 652-662
    • Healy, D.G.1    Abou-Sleiman, P.M.2    Wood, N.W.3
  • 21
    • 0031990490 scopus 로고    scopus 로고
    • Ala30Pro mutation in the gene encoding α-synuclein in Parkinson's disease
    • Kruger, R., Kuhn, W., Muller, T. et al. (1998) Ala30Pro mutation in the gene encoding α-synuclein in Parkinson's disease. Nat. Genet. 18, 106-108
    • (1998) Nat. Genet. , vol.18 , pp. 106-108
    • Kruger, R.1    Kuhn, W.2    Muller, T.3
  • 22
    • 10744230149 scopus 로고    scopus 로고
    • The new mutation, E46K, of α-synuclein causes Parkinson and Lewy body dementia
    • Zarranz, J. J., Alegre, J., Gomez-Esteban, J. C. et al. (2004) The new mutation, E46K, of α-synuclein causes Parkinson and Lewy body dementia. Ann. Neurol. 55, 164-173
    • (2004) Ann. Neurol. , vol.55 , pp. 164-173
    • Zarranz, J.J.1    Alegre, J.2    Gomez-Esteban, J.C.3
  • 24
    • 0242300619 scopus 로고    scopus 로고
    • α-synuclein locus triplication causes Parkinson's disease
    • Singleton, A. B., Farrer, M., Johnson, J. et al. (2003) α-Synuclein locus triplication causes Parkinson's disease. Science 302, 841
    • (2003) Science , vol.302 , pp. 841
    • Singleton, A.B.1    Farrer, M.2    Johnson, J.3
  • 25
    • 4644236043 scopus 로고    scopus 로고
    • Causal relation between α-synuclein gene duplication and familial Parkinson's disease
    • Ibanez, P., Bonnet, A. M., Debarges, B. et al. (2004) Causal relation between α-synuclein gene duplication and familial Parkinson's disease. Lancet 364, 1169-1171
    • (2004) Lancet , vol.364 , pp. 1169-1171
    • Ibanez, P.1    Bonnet, A.M.2    Debarges, B.3
  • 26
    • 15144345616 scopus 로고    scopus 로고
    • Hereditary form of parkinsonism-dementia
    • Muenter, M. D., Forno, L. S., Hornykiewicz, O. et al. (1998) Hereditary form of parkinsonism-dementia. Ann. Neurol. 43, 768-781
    • (1998) Ann. Neurol. , vol.43 , pp. 768-781
    • Muenter, M.D.1    Forno, L.S.2    Hornykiewicz, O.3
  • 27
    • 4644290985 scopus 로고    scopus 로고
    • α-synuclein locus duplication as a cause of familial Parkinson's disease
    • Chartier-Harlin, M. C., Kachergus, J., Roumier, C. et al. (2004) α-Synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 364, 1167-1169
    • (2004) Lancet , vol.364 , pp. 1167-1169
    • Chartier-Harlin, M.C.1    Kachergus, J.2    Roumier, C.3
  • 28
    • 0033933048 scopus 로고    scopus 로고
    • Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase
    • Shimura, H., Hattori, N., Kubo, S. et al. (2000) Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat. Genet. 25, 302-305
    • (2000) Nat. Genet. , vol.25 , pp. 302-305
    • Shimura, H.1    Hattori, N.2    Kubo, S.3
  • 29
    • 0035854437 scopus 로고    scopus 로고
    • Ubiquitination of a new form of α-synuclein by parkin from human brain: Implications for Parkinson's disease
    • Shimura, H., Schlossmacher, M. G., Hattori, N. et al. (2001) Ubiquitination of a new form of α-synuclein by parkin from human brain: implications for Parkinson's disease. Science 293, 263-269
    • (2001) Science , vol.293 , pp. 263-269
    • Shimura, H.1    Schlossmacher, M.G.2    Hattori, N.3
  • 30
    • 0038624450 scopus 로고    scopus 로고
    • Parkin's substrates and the pathways leading to neuronal damage
    • Cookson, M. R. (2003) Parkin's substrates and the pathways leading to neuronal damage. Neuromol. Med. 3, 1-13
    • (2003) Neuromol. Med. , vol.3 , pp. 1-13
    • Cookson, M.R.1
  • 31
    • 10744226640 scopus 로고    scopus 로고
    • DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease
    • Hedrich, K., Djarmati, A., Schafer, N. et al. (2004) DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology 62, 389-394
    • (2004) Neurology , vol.62 , pp. 389-394
    • Hedrich, K.1    Djarmati, A.2    Schafer, N.3
  • 32
    • 0034848395 scopus 로고    scopus 로고
    • Lewy bodies and parkinsonism in families with parkin mutations
    • Farrer, M., Chan, P., Chen, R. et al. (2001) Lewy bodies and parkinsonism in families with parkin mutations. Ann. Neurol. 50, 293-300
    • (2001) Ann. Neurol. , vol.50 , pp. 293-300
    • Farrer, M.1    Chan, P.2    Chen, R.3
  • 33
    • 4344681293 scopus 로고    scopus 로고
    • Pathogenetic mechanisms of parkin in Parkinson's disease
    • Hattori, N. and Mizuno, Y. (2004) Pathogenetic mechanisms of parkin in Parkinson's disease. Lancet 364, 722-724
    • (2004) Lancet , vol.364 , pp. 722-724
    • Hattori, N.1    Mizuno, Y.2
  • 34
    • 11444265305 scopus 로고    scopus 로고
    • Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation
    • Khan, N. L., Scherfler, C., Graham, E. et al. (2005) Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation. Neurology 64, 134-136
    • (2005) Neurology , vol.64 , pp. 134-136
    • Khan, N.L.1    Scherfler, C.2    Graham, E.3
  • 35
    • 19944432921 scopus 로고    scopus 로고
    • A common LRRK2 mutation in idiopathic Parkinson's disease
    • Gilks, W. P., Abou-Sleiman, P. M., Gandhi, S. et al. (2005) A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet 365, 415-416
    • (2005) Lancet , vol.365 , pp. 415-416
    • Gilks, W.P.1    Abou-Sleiman, P.M.2    Gandhi, S.3
  • 36
    • 19944432606 scopus 로고    scopus 로고
    • Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease
    • Nichols, W. C., Pankratz, N., Hernandez, D. et al. (2005) Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet 365, 410-412
    • (2005) Lancet , vol.365 , pp. 410-412
    • Nichols, W.C.1    Pankratz, N.2    Hernandez, D.3
  • 37
    • 19944431081 scopus 로고    scopus 로고
    • A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease
    • Di Fonzo, A., Rohé, C. F., Ferreira, J. et al. (2005) A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. Lancet 365, 412-415
    • (2005) Lancet , vol.365 , pp. 412-415
    • Di Fonzo, A.1    Rohé, C.F.2    Ferreira, J.3
  • 38
    • 0042415580 scopus 로고    scopus 로고
    • How much phenotypic variation can be attributed to parkin genotype?
    • Lohmann, E., Periquet, M., Bonifati, V. et al. (2003) How much phenotypic variation can be attributed to parkin genotype? Ann. Neurol. 54, 176-185
    • (2003) Ann. Neurol. , vol.54 , pp. 176-185
    • Lohmann, E.1    Periquet, M.2    Bonifati, V.3
  • 39
    • 0034848395 scopus 로고    scopus 로고
    • Lewy bodies and parkinsonism in families with parkin mutations
    • Farrer, M., Chan, P., Chen, R. et al. (2001) Lewy bodies and parkinsonism in families with parkin mutations. Ann. Neurol. 50, 293-300
    • (2001) Ann. Neurol. , vol.50 , pp. 293-300
    • Farrer, M.1    Chan, P.2    Chen, R.3
  • 40
    • 0035957112 scopus 로고    scopus 로고
    • Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations
    • van de Warrenburg, B. P., Lammens, M., Lucking, C. B. et al. (2001) Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations. Neurology 56, 555-557
    • (2001) Neurology , vol.56 , pp. 555-557
    • Van De Warrenburg, B.P.1    Lammens, M.2    Lucking, C.B.3
  • 41
    • 2942684871 scopus 로고    scopus 로고
    • The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization
    • Canet-Aviles, R. M., Wilson, M. A., Miller, D. W. et al. (2004) The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization. Proc. Natl. Acad. Sci. U.S.A. 101, 9103-9108
    • (2004) Proc. Natl. Acad. Sci. U.S.A. , vol.101 , pp. 9103-9108
    • Canet-Aviles, R.M.1    Wilson, M.A.2    Miller, D.W.3
  • 42
    • 12344251678 scopus 로고    scopus 로고
    • Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stress
    • Moore, D. J., Zhang, L., Troncoso, J. et al. (2005) Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stress. Hum. Mol. Genet. 14, 71-84
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 71-84
    • Moore, D.J.1    Zhang, L.2    Troncoso, J.3
  • 45
    • 5044235807 scopus 로고    scopus 로고
    • Novel homozygous PE64D mutation in DJ1 in early onset Parkinson disease (PARK7)
    • Hering, R., Strauss, K. M., Tao, X. et al. (2004) Novel homozygous PE64D mutation in DJ1 in early onset Parkinson disease (PARK7). Hum. Mutat. 24, 321-329
    • (2004) Hum. Mutat. , vol.24 , pp. 321-329
    • Hering, R.1    Strauss, K.M.2    Tao, X.3
  • 46
    • 4444274910 scopus 로고    scopus 로고
    • PINK1 mutations are associated with sporadic early-onset parkinsonism
    • Valente, E. M., Salvi, S., Ialongo, T. et al. (2004) PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann. Neurol. 56, 336-341
    • (2004) Ann. Neurol. , vol.56 , pp. 336-341
    • Valente, E.M.1    Salvi, S.2    Ialongo, T.3
  • 47
    • 4444237208 scopus 로고    scopus 로고
    • Novel PINK1 mutations in early-onset parkinsonism
    • Hatano, Y., Li, Y., Sato, K. et al. (2004) Novel PINK1 mutations in early-onset parkinsonism. Ann. Neurol. 56, 424-427
    • (2004) Ann. Neurol. , vol.56 , pp. 424-427
    • Hatano, Y.1    Li, Y.2    Sato, K.3
  • 48
    • 4444269012 scopus 로고    scopus 로고
    • Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism
    • Rohe, C. F., Montagna, P., Breedveld, G. et al. (2004) Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. Ann. Neurol. 56, 427-431
    • (2004) Ann. Neurol. , vol.56 , pp. 427-431
    • Rohe, C.F.1    Montagna, P.2    Breedveld, G.3
  • 49
    • 10044275502 scopus 로고    scopus 로고
    • Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease
    • Rogaeva, E., Johnson, J., Lang, A. E. et al. (2004) Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch. Neurol. 61, 1898-1904
    • (2004) Arch. Neurol. , vol.61 , pp. 1898-1904
    • Rogaeva, E.1    Johnson, J.2    Lang, A.E.3
  • 50
    • 5644254800 scopus 로고    scopus 로고
    • PINK1 (PARK6) associated Parkinson disease in Ireland
    • Healy, D. G., Abou-Sleiman, P. M., Gibson, J. M. et al. (2004) PINK1 (PARK6) associated Parkinson disease in Ireland. Neurology 63, 1486-1488
    • (2004) Neurology , vol.63 , pp. 1486-1488
    • Healy, D.G.1    Abou-Sleiman, P.M.2    Gibson, J.M.3
  • 51
    • 10044275502 scopus 로고    scopus 로고
    • Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease
    • Rogaeva, E., Johnson, J., Lang, A. E. et al. (2004) Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch. Neurol. 61, 1898-1904
    • (2004) Arch. Neurol. , vol.61 , pp. 1898-1904
    • Rogaeva, E.1    Johnson, J.2    Lang, A.E.3
  • 53
    • 0242363670 scopus 로고    scopus 로고
    • Molecular pathways of neurodegeneration in Parkinson's disease
    • Dawson, T. M. and Dawson, V. L. (2003) Molecular pathways of neurodegeneration in Parkinson's disease. Science 30, 819-822
    • (2003) Science , vol.30 , pp. 819-822
    • Dawson, T.M.1    Dawson, V.L.2
  • 54
    • 0037127197 scopus 로고    scopus 로고
    • The herbicide paraquat causes up-regulation and aggregation of α-synuclein in mice: Paraquat and α-synuclein
    • Manning-Bog, A. B., McCormack, A. L., Li, J., Uversky, V. N., Fink, A. L. and Di Monte, D. A. (2002) The herbicide paraquat causes up-regulation and aggregation of α-synuclein in mice: paraquat and α-synuclein. J. Biol. Chem. 277, 1641-1644
    • (2002) J. Biol. Chem. , vol.277 , pp. 1641-1644
    • Manning-Bog, A.B.1    McCormack, A.L.2    Li, J.3    Uversky, V.N.4    Fink, A.L.5    Di Monte, D.A.6
  • 56
    • 0037244211 scopus 로고    scopus 로고
    • The identification of pats1, a novel gene locus required for cytokinesis in Dictyostelium discoideum
    • Abysalh, J. C., Kuchnicki, L. L. and Larochelle, D. A. (2003) The identification of pats1, a novel gene locus required for cytokinesis in Dictyostelium discoideum. Mol. Biol. Cell. 14, 14-25
    • (2003) Mol. Biol. Cell. , vol.14 , pp. 14-25
    • Abysalh, J.C.1    Kuchnicki, L.L.2    Larochelle, D.A.3
  • 57
    • 0031056002 scopus 로고    scopus 로고
    • 2+/calmodulin-dependent, cytoskeletal-associated protein kinase, with cell death-inducing functions that depend on its catalytic activity
    • 2+/calmodulin-dependent, cytoskeletal-associated protein kinase, with cell death-inducing functions that depend on its catalytic activity. EMBO J. 16, 998-1008
    • (1997) EMBO J. , vol.16 , pp. 998-1008
    • Cohen, O.1    Feinstein, E.2    Kimchi, A.3
  • 58
    • 7444237665 scopus 로고    scopus 로고
    • Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
    • Aharon-Peretz, J., Rosenbaum, H. and Gershoni-Baruch, R. (2004) Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. New Engl. J. Med. 351, 1972-1977
    • (2004) New Engl. J. Med. , vol.351 , pp. 1972-1977
    • Aharon-Peretz, J.1    Rosenbaum, H.2    Gershoni-Baruch, R.3
  • 60
    • 20944434070 scopus 로고    scopus 로고
    • Analysis of the glucocerebrosidase gene in Parkinson's disease
    • Sato, C., Morgan, A., Lang, A. E. et al. (2005) Analysis of the glucocerebrosidase gene in Parkinson's disease. Mov. Disord. 20, 367-370
    • (2005) Mov. Disord. , vol.20 , pp. 367-370
    • Sato, C.1    Morgan, A.2    Lang, A.E.3
  • 61
    • 0032996131 scopus 로고    scopus 로고
    • Parkinson's syndrome preceding clinical manifestation of Gaucher's disease
    • Machaczka, M., Rucinska, M., Skotnicki, A. B. and Jurczak, W. (1999) Parkinson's syndrome preceding clinical manifestation of Gaucher's disease. Am. J. Hematol. 61, 216-217
    • (1999) Am. J. Hematol. , vol.61 , pp. 216-217
    • Machaczka, M.1    Rucinska, M.2    Skotnicki, A.B.3    Jurczak, W.4
  • 62
    • 10744226352 scopus 로고    scopus 로고
    • Gaucher's disease with Parkinson's disease: Clinical and pathological aspects
    • Bembi, B., Zambito Marsala, S., Sidransky, E. et al. (2003) Gaucher's disease with Parkinson's disease: clinical and pathological aspects. Neurology 61, 99-101
    • (2003) Neurology , vol.61 , pp. 99-101
    • Bembi, B.1    Zambito Marsala, S.2    Sidransky, E.3
  • 63
    • 14044262300 scopus 로고    scopus 로고
    • Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity
    • Clark, L. N., Nicolai, A., Afridi, S. et al. (2004) Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity. Mov. Disord. 20, 100-103
    • (2004) Mov. Disord. , vol.20 , pp. 100-103
    • Clark, L.N.1    Nicolai, A.2    Afridi, S.3
  • 64
    • 7444221832 scopus 로고    scopus 로고
    • New genetic insights into Parkinson's disease
    • Feany, M. B. (2004) New genetic insights into Parkinson's disease. New Engl. J. Med. 351, 1937-1940
    • (2004) New Engl. J. Med. , vol.351 , pp. 1937-1940
    • Feany, M.B.1
  • 65
    • 0037131567 scopus 로고    scopus 로고
    • The UCHL-1 gene encodes two opposing enzymatic activities that affect α-synuclein degradation and Parkinson's disease susceptibility
    • Liu, Y., Fallon, L., Lashuel, H. A., Liu, Z. and Lansbury, P. T. (2002) The UCHL-1 gene encodes two opposing enzymatic activities that affect α-synuclein degradation and Parkinson's disease susceptibility. Cell 111, 209-218
    • (2002) Cell , vol.111 , pp. 209-218
    • Liu, Y.1    Fallon, L.2    Lashuel, H.A.3    Liu, Z.4    Lansbury, P.T.5
  • 66
    • 10744224825 scopus 로고    scopus 로고
    • Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron
    • Osaka, H., Wang, Y. L., Takada, K. et al. (2003) Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron. Hum. Mol. Genet. 12, 1945-1958
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 1945-1958
    • Osaka, H.1    Wang, Y.L.2    Takada, K.3
  • 67
    • 0037466510 scopus 로고    scopus 로고
    • Alterations of structure and hydrolase activity of parkinsonism- associated human ubiquitin carboxyl-terminal hydrolase L1 variants
    • Nishikawa, K., Li, H., Kawamura, R. et al. (2003) Alterations of structure and hydrolase activity of parkinsonism-associated human ubiquitin carboxyl-terminal hydrolase L1 variants. Biochem. Biophys. Res. Commun. 30, 176-183
    • (2003) Biochem. Biophys. Res. Commun. , vol.30 , pp. 176-183
    • Nishikawa, K.1    Li, H.2    Kawamura, R.3
  • 69
    • 0034649710 scopus 로고    scopus 로고
    • Familial aggregation of Parkinson's disease in Iceland
    • Sveinbjornsdottir, S., Hicks, A. A., Jonsson, T. et al. (2000) Familial aggregation of Parkinson's disease in Iceland. New Engl. J. Med. 343, 1765-1770
    • (2000) New Engl. J. Med. , vol.343 , pp. 1765-1770
    • Sveinbjornsdottir, S.1    Hicks, A.A.2    Jonsson, T.3
  • 70
    • 4844223492 scopus 로고    scopus 로고
    • Familial aggregation of Parkinson's disease: The Mayo Clinic family study
    • Rocca, W. A., McDonnell, S. K., Strain, K. J. et al. (2004) Familial aggregation of Parkinson's disease: The Mayo Clinic family study. Ann. Neurol. 56, 495-502
    • (2004) Ann. Neurol. , vol.56 , pp. 495-502
    • Rocca, W.A.1    McDonnell, S.K.2    Strain, K.J.3
  • 71
    • 0141535355 scopus 로고    scopus 로고
    • Familial aggregation of early- and late-onset Parkinson's disease
    • Marder, K., Levy, G., Louis, E. D. et al. (2003) Familial aggregation of early- and late-onset Parkinson's disease. Ann. Neurol. 54, 507-513
    • (2003) Ann. Neurol. , vol.54 , pp. 507-513
    • Marder, K.1    Levy, G.2    Louis, E.D.3
  • 72
    • 0036375516 scopus 로고    scopus 로고
    • Age-environment and gene-environment interactions in the pathogenesis of Parkinson's disease
    • Le Couteur, D. G., Muller, M., Yang, M. C., Mellick, G. D. and McLean, A. J. (2002) Age-environment and gene-environment interactions in the pathogenesis of Parkinson's disease. Rev. Environ. Health 17, 51-64
    • (2002) Rev. Environ. Health , vol.17 , pp. 51-64
    • Le Couteur, D.G.1    Muller, M.2    Yang, M.C.3    Mellick, G.D.4    McLean, A.J.5
  • 74
    • 0037373275 scopus 로고    scopus 로고
    • Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease
    • Botstein, D. and Risch, N. (2003) Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat. Genet. 33 (Suppl.), 228-237
    • (2003) Nat. Genet. , vol.33 , Issue.SUPPL. , pp. 228-237
    • Botstein, D.1    Risch, N.2
  • 75
    • 0037442092 scopus 로고    scopus 로고
    • Population stratification and spurious allelic association
    • Cardon, L. R. and Palmer, L. J. (2003) Population stratification and spurious allelic association. Lancet 361, 598-604
    • (2003) Lancet , vol.361 , pp. 598-604
    • Cardon, L.R.1    Palmer, L.J.2
  • 76
    • 0042424602 scopus 로고    scopus 로고
    • Statistical significance for genomewide studies
    • Storey, J. D. and Tibshirani, R. (2003) Statistical significance for genomewide studies. Proc. Natl. Acad. Sci. U.S.A. 100, 9440-9445
    • (2003) Proc. Natl. Acad. Sci. U.S.A. , vol.100 , pp. 9440-9445
    • Storey, J.D.1    Tibshirani, R.2
  • 77
    • 2642583283 scopus 로고    scopus 로고
    • Mapping complex disease loci in whole-genome association studies
    • Carlson, C. S., Eberle, M. A., Kruglyak, L. and Nickerson, D. A. (2004) Mapping complex disease loci in whole-genome association studies. Nature (London) 429, 446-452
    • (2004) Nature (London) , vol.429 , pp. 446-452
    • Carlson, C.S.1    Eberle, M.A.2    Kruglyak, L.3    Nickerson, D.A.4
  • 79
    • 0031951197 scopus 로고    scopus 로고
    • A susceptibility locus for Parkinson's disease maps to chromosome 2p13
    • Gasser, T., Muller-Myhsok, B., Wszolek, Z. K. et al. (1998) A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat. Genet. 18, 262-265
    • (1998) Nat. Genet. , vol.18 , pp. 262-265
    • Gasser, T.1    Muller-Myhsok, B.2    Wszolek, Z.K.3
  • 80
    • 18344363723 scopus 로고    scopus 로고
    • PARK3 influences age at onset in Parkinson disease: A genome scan in the GenePD study
    • DeStefano, A. L., Lew, M. F., Golbe, L. I. et al. (2002) PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. Am. J. Hum. Genet. 70, 1089-1095
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 1089-1095
    • Destefano, A.L.1    Lew, M.F.2    Golbe, L.I.3
  • 81
    • 0034814928 scopus 로고    scopus 로고
    • Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes
    • West, A. B., Zimprich, A., Lockhart, P. J. et al. (2001) Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes. Eur. J. Hum. Genet. 9, 659-666
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 659-666
    • West, A.B.1    Zimprich, A.2    Lockhart, P.J.3
  • 82
    • 0036830525 scopus 로고    scopus 로고
    • A susceptibility gene for late-onset idiopathic Parkinson's disease
    • Hicks, A. A., Petursson, H., Jonsson, T. et al. (2002) A susceptibility gene for late-onset idiopathic Parkinson's disease. Ann. Neurol. 52, 549-555
    • (2002) Ann. Neurol. , vol.52 , pp. 549-555
    • Hicks, A.A.1    Petursson, H.2    Jonsson, T.3
  • 83
    • 0036091503 scopus 로고    scopus 로고
    • Familial aggregation of Parkinson disease: A comparative study of early-onset and late-onset disease
    • Payami, H., Zareparsi, S., James, D. and Nutt, J. (2002) Familial aggregation of Parkinson disease: a comparative study of early-onset and late-onset disease. Arch. Neurol. 59, 848-850
    • (2002) Arch. Neurol. , vol.59 , pp. 848-850
    • Payami, H.1    Zareparsi, S.2    James, D.3    Nutt, J.4
  • 84
    • 18344393780 scopus 로고    scopus 로고
    • Age at onset in two common neurodegenerative diseases is genetically controlled
    • Li, Y. J., Scott, W. K., Hedges, D. J. et al. (2002) Age at onset in two common neurodegenerative diseases is genetically controlled. Am. J. Hum. Genet. 70, 985-993
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 985-993
    • Li, Y.J.1    Scott, W.K.2    Hedges, D.J.3
  • 85
    • 18444364221 scopus 로고    scopus 로고
    • Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations
    • Pankratz, N., Nichols, W. C., Uniacke, S. K. et al. (2002) Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations. Am. J. Hum. Genet. 71, 124-135
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 124-135
    • Pankratz, N.1    Nichols, W.C.2    Uniacke, S.K.3
  • 86
    • 0035860983 scopus 로고    scopus 로고
    • Complete genomic screen in Parkinson disease: Evidence for multiple genes
    • Scott, W. K., Nance, M. A., Watts, R. L. et al. (2001) Complete genomic screen in Parkinson disease: evidence for multiple genes. JAMA, J. Am. Med. Assoc. 286, 2239-2244
    • (2001) JAMA, J. Am. Med. Assoc. , vol.286 , pp. 2239-2244
    • Scott, W.K.1    Nance, M.A.2    Watts, R.L.3
  • 87
    • 19944410482 scopus 로고    scopus 로고
    • Genome-wide scan linkage analysis for Parkinson's disease: The European genetic study of Parkinson's disease
    • Martinez, M., Brice, A., Vaughan, J. R. et al. (2004) Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease. J. Med. Genet. 41, 900-907
    • (2004) J. Med. Genet. , vol.41 , pp. 900-907
    • Martinez, M.1    Brice, A.2    Vaughan, J.R.3
  • 88
    • 0033837202 scopus 로고    scopus 로고
    • Variability and validity of polymorphism association studies in Parkinson's disease
    • Tan, E. K., Khajavi, M., Thornby, J. I., Nagamitsu, S., Jankovic, J. and Ashizawa, T. (2000) Variability and validity of polymorphism association studies in Parkinson's disease. Neurology 55, 533-538
    • (2000) Neurology , vol.55 , pp. 533-538
    • Tan, E.K.1    Khajavi, M.2    Thornby, J.I.3    Nagamitsu, S.4    Jankovic, J.5    Ashizawa, T.6
  • 89
    • 0034758045 scopus 로고    scopus 로고
    • Genomewide scans of complex human diseases: True linkage is hard to find
    • Altmuller, J., Palmer, L. J., Fischer, G., Scherb, H. and Wjst, M. (2001) Genomewide scans of complex human diseases: true linkage is hard to find. Am. J. Hum. Genet. 69, 936-950
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 936-950
    • Altmuller, J.1    Palmer, L.J.2    Fischer, G.3    Scherb, H.4    Wjst, M.5
  • 90
    • 0032543684 scopus 로고    scopus 로고
    • Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
    • Hutton, M., Lendon, C. L., Rizzu, P. et al. (1998) Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature (London) 393, 702-705
    • (1998) Nature (London) , vol.393 , pp. 702-705
    • Hutton, M.1    Lendon, C.L.2    Rizzu, P.3
  • 91
    • 0034530634 scopus 로고    scopus 로고
    • Molecular genetics of chromosome 17 tauopathies
    • Hutton, M. (2000) Molecular genetics of chromosome 17 tauopathies. Ann. NY Acad. Sci. 920, 63-73
    • (2000) Ann. NY Acad. Sci. , vol.920 , pp. 63-73
    • Hutton, M.1
  • 92
    • 0031044850 scopus 로고    scopus 로고
    • Genetic evidence for the involvement of tau in progressive supranuclear palsy
    • Conrad, C., Andreadis, A., Trojanowski, J. Q. et al. (1997) Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann. Neurol. 41, 277-281
    • (1997) Ann. Neurol. , vol.41 , pp. 277-281
    • Conrad, C.1    Andreadis, A.2    Trojanowski, J.Q.3
  • 93
    • 0035954364 scopus 로고    scopus 로고
    • Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype
    • Houlden, H., Baker, M., Morris, H. R. et al. (2001) Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype. Neurology 56, 1702-1706
    • (2001) Neurology , vol.56 , pp. 1702-1706
    • Houlden, H.1    Baker, M.2    Morris, H.R.3
  • 94
    • 2342605968 scopus 로고    scopus 로고
    • Autosomal dominant parkinsonism associated with variable synuclein and tau pathology
    • Wszolek, Z. K., Pfeiffer, R. F., Tsuboi, Y. et al. (2004) Autosomal dominant parkinsonism associated with variable synuclein and tau pathology. Neurology 62, 1619-1622
    • (2004) Neurology , vol.62 , pp. 1619-1622
    • Wszolek, Z.K.1    Pfeiffer, R.F.2    Tsuboi, Y.3
  • 95
    • 0035957112 scopus 로고    scopus 로고
    • Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations
    • van de Warrenburg, B. P., Lammens, M., Lucking, C. B. et al. (2001) Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations. Neurology 56, 555-557
    • (2001) Neurology , vol.56 , pp. 555-557
    • Van De Warrenburg, B.P.1    Lammens, M.2    Lucking, C.B.3
  • 96
    • 3042797560 scopus 로고    scopus 로고
    • Tau gene and Parkinson's disease: A case-control study and meta-analysis
    • Healy, D. G., Abou-Sleiman, P. M., Lees, A. J. et al. (2004) Tau gene and Parkinson's disease: a case-control study and meta-analysis. J. Neurol. Neurosurg. Psychiatry 75, 962-965
    • (2004) J. Neurol. Neurosurg. Psychiatry , vol.75 , pp. 962-965
    • Healy, D.G.1    Abou-Sleiman, P.M.2    Lees, A.J.3
  • 97
    • 0342950666 scopus 로고    scopus 로고
    • Increased susceptibility to sporadic Parkinson's disease by a certain combined α-synuclein/apolipoprotein E genotype
    • Kruger, R., Vieira-Saecker, A. M., Kuhn, W. et al. (1999) Increased susceptibility to sporadic Parkinson's disease by a certain combined α-synuclein/apolipoprotein E genotype. Ann. Neurol. 45, 611-617
    • (1999) Ann. Neurol. , vol.45 , pp. 611-617
    • Kruger, R.1    Vieira-Saecker, A.M.2    Kuhn, W.3
  • 98
    • 0035880458 scopus 로고    scopus 로고
    • α-synuclein gene haplotypes are associated with Parkinson's disease
    • Farrer, M., Maraganore, D. M., Lockhart, P. et al. (2001) α-Synuclein gene haplotypes are associated with Parkinson's disease. Hum. Mol. Genet. 10, 1847-1851
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 1847-1851
    • Farrer, M.1    Maraganore, D.M.2    Lockhart, P.3
  • 99
    • 9144266292 scopus 로고    scopus 로고
    • α-synuclein haplotypes implicated in risk of Parkinson's disease
    • Tan, E. K., Chai, A., Teo, Y. Y. et al. (2004) α-Synuclein haplotypes implicated in risk of Parkinson's disease. Neurology 62, 128-131
    • (2004) Neurology , vol.62 , pp. 128-131
    • Tan, E.K.1    Chai, A.2    Teo, Y.Y.3
  • 100
    • 0034646346 scopus 로고    scopus 로고
    • Polymorphism of NACP-Rep1 in Parkinson's disease: An etiologic link with essential tremor?
    • Tan, E. K., Matsuura, T., Nagamitsu, S., Khajavi, M., Jankovic, J. and Ashizawa, T. (2000) Polymorphism of NACP-Rep1 in Parkinson's disease: an etiologic link with essential tremor? Neurology 54, 1195-1198
    • (2000) Neurology , vol.54 , pp. 1195-1198
    • Tan, E.K.1    Matsuura, T.2    Nagamitsu, S.3    Khajavi, M.4    Jankovic, J.5    Ashizawa, T.6
  • 102
    • 12744258045 scopus 로고    scopus 로고
    • Australian data and meta-analysis lend support for α-synuclein (NACP-Rep1) as a risk factor for Parkinson's disease
    • Mellick, G. D., Maraganore, D. M. and Silburn, P. A. (2005) Australian data and meta-analysis lend support for α-synuclein (NACP-Rep1) as a risk factor for Parkinson's disease. Neurosci. Lett. 375, 112-116
    • (2005) Neurosci. Lett. , vol.375 , pp. 112-116
    • Mellick, G.D.1    Maraganore, D.M.2    Silburn, P.A.3
  • 103
    • 18544406092 scopus 로고    scopus 로고
    • Parkinson's disease is not associated with the combined α-synuclein/apolipoprotein E susceptibility genotype
    • Khan, N., Graham, E., Dixon, P. et al. (2001) Parkinson's disease is not associated with the combined α-synuclein/apolipoprotein E susceptibility genotype. Ann. Neurol. 49, 665-668
    • (2001) Ann. Neurol. , vol.49 , pp. 665-668
    • Khan, N.1    Graham, E.2    Dixon, P.3
  • 104
    • 0031678048 scopus 로고    scopus 로고
    • Mutation, sequence analysis, and association studies of alpha-synuclein in Parkinson's disease
    • Parsian, A., Racette, B., Zhang, Z. H. et al. (1998) Mutation, sequence analysis, and association studies of alpha-synuclein in Parkinson's disease. Neurology 51, 1757-1759
    • (1998) Neurology , vol.51 , pp. 1757-1759
    • Parsian, A.1    Racette, B.2    Zhang, Z.H.3
  • 105
    • 10744223645 scopus 로고    scopus 로고
    • NACP-REP1 polymorphism is not involved in Parkinson's disease: A case-control study in a population sample from southern Italy
    • Spadafora, P., Annesi, G., Pasqua, A. A. et al. (2003) NACP-REP1 polymorphism is not involved in Parkinson's disease: a case-control study in a population sample from southern Italy. Neurosci. Lett. 351, 75-78
    • (2003) Neurosci. Lett. , vol.351 , pp. 75-78
    • Spadafora, P.1    Annesi, G.2    Pasqua, A.A.3
  • 106
    • 0037426704 scopus 로고    scopus 로고
    • α-synuclein promoter and risk of Parkinson's disease: Microsatellite and allelic size variability
    • Tan, E. K., Tan, C., Shen, H. et al. (2003) α-Synuclein promoter and risk of Parkinson's disease: microsatellite and allelic size variability. Neurosci. Lett. 336, 70-72
    • (2003) Neurosci. Lett. , vol.336 , pp. 70-72
    • Tan, E.K.1    Tan, C.2    Shen, H.3
  • 107
    • 0035831303 scopus 로고    scopus 로고
    • Genetic studies in Parkinson's disease with an α-synuclein/NACP gene polymorphism in Japan
    • Izumi, Y., Morino, H., Oda, M. et al. (2001) Genetic studies in Parkinson's disease with an α-synuclein/NACP gene polymorphism in Japan. Neurosci. Lett. 300, 125-127
    • (2001) Neurosci. Lett. , vol.300 , pp. 125-127
    • Izumi, Y.1    Morino, H.2    Oda, M.3
  • 108
    • 13844289143 scopus 로고    scopus 로고
    • Regulation of α-synuclein expression by poly (ADP Ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene
    • Chiba-Falek, O., Kowalak, J. A., Smulson, M. E. and Nussbaum, R. L. (2005) Regulation of α-synuclein expression by poly (ADP Ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene. Am. J. Hum. Genet. 76, 478-479
    • (2005) Am. J. Hum. Genet. , vol.76 , pp. 478-479
    • Chiba-Falek, O.1    Kowalak, J.A.2    Smulson, M.E.3    Nussbaum, R.L.4
  • 109
    • 5644284321 scopus 로고    scopus 로고
    • Polymorphisms of the α-synuclein promoter: Expression analyses and association studies in Parkinson's disease
    • Holzmann, C., Kruger, R., Saecker, A. M. et al. (2003) Polymorphisms of the α-synuclein promoter: expression analyses and association studies in Parkinson's disease. J. Neural Transm. 110, 67-76
    • (2003) J. Neural Transm. , vol.110 , pp. 67-76
    • Holzmann, C.1    Kruger, R.2    Saecker, A.M.3
  • 110
    • 0036550101 scopus 로고    scopus 로고
    • Parkinson-like neurodegeneration induced by targeted overexpression of α-synuclein in the nigrostriatal system
    • Kirik, D., Rosenblad, C., Burger, C. et al. (2002) Parkinson-like neurodegeneration induced by targeted overexpression of α-synuclein in the nigrostriatal system. J. Neurosci. 22, 2780-2791
    • (2002) J. Neurosci. , vol.22 , pp. 2780-2791
    • Kirik, D.1    Rosenblad, C.2    Burger, C.3
  • 111
    • 0038460184 scopus 로고    scopus 로고
    • Part II: α-synuclein and its molecular pathophysiological role in neurodegenerative disease
    • Dev, K. K., Hofele, K., Barbieri, S., Buchman, V. L. and van der Putten, H. (2003) Part II: α-synuclein and its molecular pathophysiological role in neurodegenerative disease. Neuropharmacology 45, 14-44
    • (2003) Neuropharmacology , vol.45 , pp. 14-44
    • Dev, K.K.1    Hofele, K.2    Barbieri, S.3    Buchman, V.L.4    Van Der Putten, H.5
  • 112
    • 0345269293 scopus 로고    scopus 로고
    • S18Y polymorphism in the UCH-L1 gene and Parkinson's disease: Evidence for an age-dependent relationship
    • Elbaz, A., Levecque, C., Clavel, J. et al. (2003) S18Y polymorphism in the UCH-L1 gene and Parkinson's disease: evidence for an age-dependent relationship. Mov. Disord. 18, 130-137
    • (2003) Mov. Disord. , vol.18 , pp. 130-137
    • Elbaz, A.1    Levecque, C.2    Clavel, J.3
  • 113
    • 0034864346 scopus 로고    scopus 로고
    • No genetic association of the ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease
    • Levecque, C., Destee, A., Mouroux, V. et al. (2001) No genetic association of the ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease. J. Neural Transm. 108, 979-984
    • (2001) J. Neural Transm. , vol.108 , pp. 979-984
    • Levecque, C.1    Destee, A.2    Mouroux, V.3
  • 114
    • 0034722106 scopus 로고    scopus 로고
    • The ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism does not confer protection against idiopathic Parkinson's disease
    • Mellick, G. D. and Silburn, P. A. (2000) The ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism does not confer protection against idiopathic Parkinson's disease. Neurosci. Lett. 293, 127-130
    • (2000) Neurosci. Lett. , vol.293 , pp. 127-130
    • Mellick, G.D.1    Silburn, P.A.2
  • 115
    • 0037320427 scopus 로고    scopus 로고
    • An Ile93Met substitution in the UCH-L1 gene is not a disease-causing mutation for idiopathic Parkinson's disease
    • Shi, Q. and Tao, E. (2003) An Ile93Met substitution in the UCH-L1 gene is not a disease-causing mutation for idiopathic Parkinson's disease. Chin. Med. J. 116, 312-313
    • (2003) Chin. Med. J. , vol.116 , pp. 312-313
    • Shi, Q.1    Tao, E.2
  • 116
    • 0036654541 scopus 로고    scopus 로고
    • ACT and UCH-L1 polymorphisms in Parkinson's disease and age of onset
    • Wang, J., Zhao, C. Y., Si, Y. M., Liu, Z. L., Chen, B. and Yu, L. (2002) ACT and UCH-L1 polymorphisms in Parkinson's disease and age of onset. Mov. Disord. 17, 767-771
    • (2002) Mov. Disord. , vol.17 , pp. 767-771
    • Wang, J.1    Zhao, C.Y.2    Si, Y.M.3    Liu, Z.L.4    Chen, B.5    Yu, L.6
  • 117
    • 0037466510 scopus 로고    scopus 로고
    • Alterations of structure and hydrolase activity of parkinsonism- associated human ubiquitin carboxyl-terminal hydrolase L1 variants
    • Nishikawa, K., Li, H., Kawamura, R. et al. (2003) Alterations of structure and hydrolase activity of parkinsonism-associated human ubiquitin carboxyl-terminal hydrolase L1 variants. Biochem. Biophys. Res. Commun. 304, 176-183
    • (2003) Biochem. Biophys. Res. Commun. , vol.304 , pp. 176-183
    • Nishikawa, K.1    Li, H.2    Kawamura, R.3
  • 118
    • 0035859766 scopus 로고    scopus 로고
    • Lack of association between ubiquitin carboxy-terminal hydrolase L1 gene polymorphism and PD
    • Savettieri, G., De Marco, E. V., Civitelli, D. et al. (2001) Lack of association between ubiquitin carboxy-terminal hydrolase L1 gene polymorphism and PD. Neurology 57, 560-561
    • (2001) Neurology , vol.57 , pp. 560-561
    • Savettieri, G.1    De Marco, E.V.2    Civitelli, D.3
  • 119
    • 0033947504 scopus 로고    scopus 로고
    • Association between a polymorphism of ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene and sporadic Parkinson's disease
    • Zhang, J., Hattori, N., Leroy, E. et al. (2000) Association between a polymorphism of ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene and sporadic Parkinson's disease. Parkinsonism Relat. Disord. 6, 195-197
    • (2000) Parkinsonism Relat. Disord. , vol.6 , pp. 195-197
    • Zhang, J.1    Hattori, N.2    Leroy, E.3
  • 120
    • 0034647948 scopus 로고    scopus 로고
    • Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients
    • Wintermeyer, P., Kruger, R., Kuhn, W. et al. (2000) Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients. Neuroreport 11, 2079-2082
    • (2000) Neuroreport , vol.11 , pp. 2079-2082
    • Wintermeyer, P.1    Kruger, R.2    Kuhn, W.3
  • 121
    • 0035881339 scopus 로고    scopus 로고
    • A polymorphic variation of serine to tyrosine at codon 18 in the ubiquitin C-terminal hydrolase-L1 gene is associated with a reduced risk of sporadic Parkinson's disease in a Japanese population
    • Satoh, J. and Kuroda, Y. (2001) A polymorphic variation of serine to tyrosine at codon 18 in the ubiquitin C-terminal hydrolase-L1 gene is associated with a reduced risk of sporadic Parkinson's disease in a Japanese population. J. Neurol. Sci. 189, 113-117
    • (2001) J. Neurol. Sci. , vol.189 , pp. 113-117
    • Satoh, J.1    Kuroda, Y.2
  • 122
    • 0002657323 scopus 로고    scopus 로고
    • The deubiquitinating enzyme
    • (Peters, J. M., Harris, J. R. and Finley, D., eds.), Plenum, New York
    • Wilkinson, K. D. and Hochstrasser, M. (1998) The deubiquitinating enzyme. In Ubiquitin and the Biology of the Cell (Peters, J. M., Harris, J. R. and Finley, D., eds.), pp. 99-125, Plenum, New York
    • (1998) Ubiquitin and the Biology of the Cell , pp. 99-125
    • Wilkinson, K.D.1    Hochstrasser, M.2
  • 123
    • 0033544368 scopus 로고    scopus 로고
    • Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease
    • Maraganore, D. M., Farrer, M. J., Hardy, J. A., Lincoln, S. J., McDonnell, S. K. and Rocca, W. A. (1999) Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease. Neurology 53, 1858-1860
    • (1999) Neurology , vol.53 , pp. 1858-1860
    • Maraganore, D.M.1    Farrer, M.J.2    Hardy, J.A.3    Lincoln, S.J.4    McDonnell, S.K.5    Rocca, W.A.6
  • 124
    • 12144289221 scopus 로고    scopus 로고
    • UCHL1 is a Parkinson's disease susceptibility gene
    • Maraganore, D. M., Lesnick, T. G., Elbaz, A. et al. (2004) UCHL1 is a Parkinson's disease susceptibility gene. Ann. Neurol. 55, 512-521
    • (2004) Ann. Neurol. , vol.55 , pp. 512-521
    • Maraganore, D.M.1    Lesnick, T.G.2    Elbaz, A.3
  • 125
    • 0036135090 scopus 로고    scopus 로고
    • Association studies of multiple candidate genes for Parkinson's disease using single nucleotide polymorphisms
    • Momose, Y., Murata, M., Kobayashi, K. et al. (2002) Association studies of multiple candidate genes for Parkinson's disease using single nucleotide polymorphisms. Ann. Neurol. 51, 133-136
    • (2002) Ann. Neurol. , vol.51 , pp. 133-136
    • Momose, Y.1    Murata, M.2    Kobayashi, K.3
  • 126
    • 12444269118 scopus 로고    scopus 로고
    • Discovery of inhibitors that elucidate the role of UCH-L1 activity in the H1299 lung cancer cell line
    • Liu, Y., Lashuel, H. A., Choi, S. et al. (2003) Discovery of inhibitors that elucidate the role of UCH-L1 activity in the H1299 lung cancer cell line. Chem. Biol. 10, 837-846
    • (2003) Chem. Biol. , vol.10 , pp. 837-846
    • Liu, Y.1    Lashuel, H.A.2    Choi, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.