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Volumn 96, Issue 3, 2005, Pages 175-186

Genetics of Parkinson's disease

Author keywords

synuclein; DJ 1; Parkin; Parkinson's disease, genetics; PINK1, LRRK2

Indexed keywords

ALPHA SYNUCLEIN; DJ 1 PROTEIN; LEUCINE RICH REPEAT KINASE 2; NUCLEAR RECEPTOR RELATED FACTOR 1; PARKIN; PROTEIN PARK6; PROTEIN UCHL1; SYNPHILIN 1; UNCLASSIFIED DRUG;

EID: 27844578650     PISSN: 00264806     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (33)

References (99)
  • 1
    • 0032497504 scopus 로고    scopus 로고
    • Parkinson's disease. First of two parts
    • Lang AE, Lozano AM. Parkinson's disease. First of two parts. N Engl J Med 1998;339:1044-53.
    • (1998) N Engl J Med , vol.339 , pp. 1044-1053
    • Lang, A.E.1    Lozano, A.M.2
  • 2
    • 0032531924 scopus 로고    scopus 로고
    • Parkinson's disease. Second of two parts
    • Lang AE, Lozano AM. Parkinson's disease. Second of two parts. N Engl J Med 1998;339:1130-43.
    • (1998) N Engl J Med , vol.339 , pp. 1130-1143
    • Lang, A.E.1    Lozano, A.M.2
  • 3
    • 0242363670 scopus 로고    scopus 로고
    • Molecular pathways of neurodegeneration in Parkinson's disease
    • Dawson TM, Dawson VL. Molecular pathways of neurodegeneration in Parkinson's disease. Science 2003;302:819-22.
    • (2003) Science , vol.302 , pp. 819-822
    • Dawson, T.M.1    Dawson, V.L.2
  • 4
    • 3843066722 scopus 로고    scopus 로고
    • Unraveling the pathogenesis of Parkinson's disease - The contribution of monogenic forms
    • Bonifati V, Oostra BA, Heutink P. Unraveling the pathogenesis of Parkinson's disease - the contribution of monogenic forms. Cell Mol Life Sci 2004;61:1729-50.
    • (2004) Cell Mol Life Sci , vol.61 , pp. 1729-1750
    • Bonifati, V.1    Oostra, B.A.2    Heutink, P.3
  • 5
    • 0030744876 scopus 로고    scopus 로고
    • Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
    • Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-7.
    • (1997) Science , vol.276 , pp. 2045-2047
    • Polymeropoulos, M.H.1    Lavedan, C.2    Leroy, E.3    Ide, S.E.4    Dehejia, A.5    Dutra, A.6
  • 7
    • 0031990490 scopus 로고    scopus 로고
    • Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease
    • Kruger R, Kuhn W, Muller T, Woitalla D, Graeber M, Kosel S et al. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat Genet 1998;18:106-8.
    • (1998) Nat Genet , vol.18 , pp. 106-108
    • Kruger, R.1    Kuhn, W.2    Muller, T.3    Woitalla, D.4    Graeber, M.5    Kosel, S.6
  • 9
    • 10744227740 scopus 로고    scopus 로고
    • Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications
    • Farrer M, Kachergus J, Forno L, Lincoln S, Wang DS, Hulihan M et al. Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. Ann Neurol 2004;55:174-9.
    • (2004) Ann Neurol , vol.55 , pp. 174-179
    • Farrer, M.1    Kachergus, J.2    Forno, L.3    Lincoln, S.4    Wang, D.S.5    Hulihan, M.6
  • 10
    • 4644236043 scopus 로고    scopus 로고
    • Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease
    • Ibanez P, Bonnet AM, Debarges B, Lohmann E, Tison F, Pollak P et al. Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet 2004;364:1169-71.
    • (2004) Lancet , vol.364 , pp. 1169-1171
    • Ibanez, P.1    Bonnet, A.M.2    Debarges, B.3    Lohmann, E.4    Tison, F.5    Pollak, P.6
  • 12
    • 0034531475 scopus 로고    scopus 로고
    • The alpha-synucleinopathies: Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy
    • Spillantini MG, Goedert M. The alpha-synucleinopathies: Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy. Ann N Y Acad Sci 2000;920:16-27.
    • (2000) Ann N Y Acad Sci , vol.920 , pp. 16-27
    • Spillantini, M.G.1    Goedert, M.2
  • 13
    • 0036720019 scopus 로고    scopus 로고
    • Mouse and fly models of neurodegeneration
    • Zoghbi HY, Botas J. Mouse and fly models of neurodegeneration. Trends Genet 2002;18:463-71.
    • (2002) Trends Genet , vol.18 , pp. 463-471
    • Zoghbi, H.Y.1    Botas, J.2
  • 15
    • 0035409575 scopus 로고    scopus 로고
    • Alpha-synuclein and neurodegenerative diseases
    • Goedert M. Alpha-synuclein and neurodegenerative diseases. Nat Rev Neurosci 2001;2:492-501.
    • (2001) Nat Rev Neurosci , vol.2 , pp. 492-501
    • Goedert, M.1
  • 16
    • 0037041420 scopus 로고    scopus 로고
    • Inherent toxicity of aggregates implies a common mechanism for protein misfolding diseases
    • Bucciantini M, Giannoni E, Chiti F, Baroni F, Formigli L, Zurdo J et al. Inherent toxicity of aggregates implies a common mechanism for protein misfolding diseases. Nature 2002;416:507-11.
    • (2002) Nature , vol.416 , pp. 507-511
    • Bucciantini, M.1    Giannoni, E.2    Chiti, F.3    Baroni, F.4    Formigli, L.5    Zurdo, J.6
  • 17
    • 4344659685 scopus 로고    scopus 로고
    • Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy
    • Cuervo AM, Stefanis L, Fredenburg R, Lansbury PT, Sulzer D. Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy. Science 2004;305:1292-5.
    • (2004) Science , vol.305 , pp. 1292-1295
    • Cuervo, A.M.1    Stefanis, L.2    Fredenburg, R.3    Lansbury, P.T.4    Sulzer, D.5
  • 18
    • 0037240325 scopus 로고    scopus 로고
    • Rare genetic mutations shed light on the pathogenesis of Parkinson disease
    • Dawson TM, Dawson VL. Rare genetic mutations shed light on the pathogenesis of Parkinson disease. J Clin Invest 2003;111:145-51.
    • (2003) J Clin Invest , vol.111 , pp. 145-151
    • Dawson, T.M.1    Dawson, V.L.2
  • 19
    • 0141741347 scopus 로고    scopus 로고
    • Parkinson's disease: Mechanisms and models
    • Dauer W, Przedborski S. Parkinson's disease: mechanisms and models. Neuron 2003;39:889-909.
    • (2003) Neuron , vol.39 , pp. 889-909
    • Dauer, W.1    Przedborski, S.2
  • 20
    • 0035834360 scopus 로고    scopus 로고
    • Kinetic stabilization of the alpha-synuclein protofibril by a dopamine-alpha-synuclein adduct
    • Conway KA, Rochet JC, Bieganski RM, Lansbury PT Jr. Kinetic stabilization of the alpha-synuclein protofibril by a dopamine-alpha-synuclein adduct. Science 2001;294:1346-9.
    • (2001) Science , vol.294 , pp. 1346-1349
    • Conway, K.A.1    Rochet, J.C.2    Bieganski, R.M.3    Lansbury Jr., P.T.4
  • 21
    • 0036196860 scopus 로고    scopus 로고
    • A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1
    • Funayama M, Hasegawa K, Kowa H, Saito M, Tsuji S, Obata F. A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1. Ann Neurol 2002;51:296-301.
    • (2002) Ann Neurol , vol.51 , pp. 296-301
    • Funayama, M.1    Hasegawa, K.2    Kowa, H.3    Saito, M.4    Tsuji, S.5    Obata, F.6
  • 22
    • 9144261126 scopus 로고    scopus 로고
    • The PARK8 locus in autosomal dominant parkinsonism: Confirmation of linkage and further delineation of the disease-containing interval
    • Zimprich A, Muller-Myhsok B, Farrer M, Leitner P, Sharma M, Hulihan M et al. The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval. Am J Hum Genet 2004;74:11-9.
    • (2004) Am J Hum Genet , vol.74 , pp. 11-19
    • Zimprich, A.1    Muller-Myhsok, B.2    Farrer, M.3    Leitner, P.4    Sharma, M.5    Hulihan, M.6
  • 23
    • 8844266996 scopus 로고    scopus 로고
    • Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
    • Paisan-Ruiz C, Jain S, Evans EW, Gilks WP, Simon J, van der Brug M et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 2004;44:595-600.
    • (2004) Neuron , vol.44 , pp. 595-600
    • Paisan-Ruiz, C.1    Jain, S.2    Evans, E.W.3    Gilks, W.P.4    Simon, J.5    Van Der Brug, M.6
  • 24
    • 8844233579 scopus 로고    scopus 로고
    • Mutations in LRRK2 cause autosomaldominant parkinsonism with pleomorphic pathology
    • Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S et al. Mutations in LRRK2 cause autosomaldominant parkinsonism with pleomorphic pathology. Neuron 2004;44:601-7.
    • (2004) Neuron , vol.44 , pp. 601-607
    • Zimprich, A.1    Biskup, S.2    Leitner, P.3    Lichtner, P.4    Farrer, M.5    Lincoln, S.6
  • 25
  • 26
    • 0342368772 scopus 로고    scopus 로고
    • Association between early-onset Parkinson's disease and mutations in the parkin gene. French Parkinson's Disease Genetics Study Group
    • Lucking CB, Durr A, Bonifati V, Vaughan J, De Michele G, Gasser T et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. French Parkinson's Disease Genetics Study Group. N Engl J Med 2000;342:1560-7.
    • (2000) N Engl J Med , vol.342 , pp. 1560-1567
    • Lucking, C.B.1    Durr, A.2    Bonifati, V.3    Vaughan, J.4    De Michele, G.5    Gasser, T.6
  • 27
    • 0037161261 scopus 로고    scopus 로고
    • Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations
    • Hedrich K, Marder K, Harris J, Kann M, Lynch T, Meija-Santana H et al. Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology 2002;58:1239-46.
    • (2002) Neurology , vol.58 , pp. 1239-1246
    • Hedrich, K.1    Marder, K.2    Harris, J.3    Kann, M.4    Lynch, T.5    Meija-Santana, H.6
  • 28
    • 0037648357 scopus 로고    scopus 로고
    • Parkin mutations are frequent in patients with isolated early-onset parkinsonism
    • Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S et al. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain 2003;126(Pt 6):1271-8.
    • (2003) Brain , vol.126 , Issue.PART 6 , pp. 1271-1278
    • Periquet, M.1    Latouche, M.2    Lohmann, E.3    Rawal, N.4    De Michele, G.5    Ricard, S.6
  • 30
    • 12244262766 scopus 로고    scopus 로고
    • Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease
    • Foroud T, Uniacke SK, Liu L, Pankratz N, Rudolph A, Halter C et al. Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. Neurology 2003;60:796-801.
    • (2003) Neurology , vol.60 , pp. 796-801
    • Foroud, T.1    Uniacke, S.K.2    Liu, L.3    Pankratz, N.4    Rudolph, A.5    Halter, C.6
  • 31
  • 33
    • 4143125488 scopus 로고    scopus 로고
    • Parkin-positive autosomal recessive juvenile parkinsonism with alpha-synuclein-positive inclusions
    • Sasaki S, Shirata A, Yamane K, Iwata M. Parkin-positive autosomal recessive juvenile parkinsonism with alpha-synuclein-positive inclusions. Neurology 2004;63:678-82.
    • (2004) Neurology , vol.63 , pp. 678-682
    • Sasaki, S.1    Shirata, A.2    Yamane, K.3    Iwata, M.4
  • 34
    • 0037651048 scopus 로고    scopus 로고
    • Young-onset Parkinson disease with and without parkin gene mutations: A fluorodopa F 18 positron emission tomography study
    • Thobois S, Ribeiro MJ, Lohmann E, Durr A, Pollak P, Rascol O et al. Young-onset Parkinson disease with and without parkin gene mutations: a fluorodopa F 18 positron emission tomography study. Arch Neurol 2003;60:713-8.
    • (2003) Arch Neurol , vol.60 , pp. 713-718
    • Thobois, S.1    Ribeiro, M.J.2    Lohmann, E.3    Durr, A.4    Pollak, P.5    Rascol, O.6
  • 35
    • 2942534518 scopus 로고    scopus 로고
    • Striatal and cortical pre- and postsynaptic dopaminergic dysfunction in sporadic parkin-linked parkinsonism
    • Epub 2004 Apr 16
    • Scherfler C, Khan NL, Pavese N, Eunson L, Graham E, Lees AJ et al. Striatal and cortical pre- and postsynaptic dopaminergic dysfunction in sporadic parkin-linked parkinsonism. Brain 2004;127(Pt 6):1332-42. Epub 2004 Apr 16.
    • (2004) Brain , vol.127 , Issue.PART 6 , pp. 1332-1342
    • Scherfler, C.1    Khan, N.L.2    Pavese, N.3    Eunson, L.4    Graham, E.5    Lees, A.J.6
  • 36
    • 0033933048 scopus 로고    scopus 로고
    • Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase
    • Shimura H, Hattori N, Kubo S, Mizuno Y, Asakawa S, Mihoshima S et al. Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet 2000;25:302-5.
    • (2000) Nat Genet , vol.25 , pp. 302-305
    • Shimura, H.1    Hattori, N.2    Kubo, S.3    Mizuno, Y.4    Asakawa, S.5    Mihoshima, S.6
  • 37
    • 0037431172 scopus 로고    scopus 로고
    • Parkin: A multipurpose neuroprotective agent?
    • Feany MB, Pallanck LJ. Parkin: a multipurpose neuroprotective agent? Neuron 2003;38:13-6.
    • (2003) Neuron , vol.38 , pp. 13-16
    • Feany, M.B.1    Pallanck, L.J.2
  • 38
    • 0035854437 scopus 로고    scopus 로고
    • Ubiquitination of a new form of alpha-synuclein by parkin from human brain: Implications for Parkinson's disease
    • Shimura H, Schlossmacher MG, Hattori N, Frosch MP, Trockenbacher A, Schneider R et al. Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease. Science 2001;293:263-9.
    • (2001) Science , vol.293 , pp. 263-269
    • Shimura, H.1    Schlossmacher, M.G.2    Hattori, N.3    Frosch, M.P.4    Trockenbacher, A.5    Schneider, R.6
  • 39
    • 0034776095 scopus 로고    scopus 로고
    • Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: Implications for Lewy-body formation in Parkinson disease
    • Chung KK, Zhang Y, Lim KL, Tanaka Y, Huang H, Gao J et al. Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease. Nat Med 2001;7:1144-50.
    • (2001) Nat Med , vol.7 , pp. 1144-1150
    • Chung, K.K.1    Zhang, Y.2    Lim, K.L.3    Tanaka, Y.4    Huang, H.5    Gao, J.6
  • 40
    • 0037137702 scopus 로고    scopus 로고
    • Parkin protects against the toxicity associated with mutant alpha-synuclein: Proteasome dysfunction selectively affects catecholaminergic neurons
    • Petrucelli L, O'Farrell C, Lockhart PJ, Baptista M, Kehoe K, Vink L et al. Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons. Neuron 2002;36:1007-19.
    • (2002) Neuron , vol.36 , pp. 1007-1019
    • Petrucelli, L.1    O'Farrell, C.2    Lockhart, P.J.3    Baptista, M.4    Kehoe, K.5    Vink, L.6
  • 41
    • 0037468831 scopus 로고    scopus 로고
    • Parkin suppresses dopaminergic neuron-selective neurotoxicity induced by Pael-R in Drosophila
    • Yang Y, Nishimura I, Imai Y, Takahashi R, Lu B. Parkin suppresses dopaminergic neuron-selective neurotoxicity induced by Pael-R in Drosophila. Neuron 2003;37:911-24.
    • (2003) Neuron , vol.37 , pp. 911-924
    • Yang, Y.1    Nishimura, I.2    Imai, Y.3    Takahashi, R.4    Lu, B.5
  • 42
    • 2542534741 scopus 로고    scopus 로고
    • S-nitrosylation of parkin regulates ubiquitination and compromises parkin's protective function
    • Epub 2004 Apr 22
    • Chung KK, Thomas B, Li X, Pletnikova O, Troncoso JC, Marsh L et al. S-nitrosylation of parkin regulates ubiquitination and compromises parkin's protective function. Science 2004;304:1328-31. Epub 2004 Apr 22.
    • (2004) Science , vol.304 , pp. 1328-1331
    • Chung, K.K.1    Thomas, B.2    Li, X.3    Pletnikova, O.4    Troncoso, J.C.5    Marsh, L.6
  • 43
    • 3242733689 scopus 로고    scopus 로고
    • Nitrosative stress linked to sporadic Parkinson's disease: S-nitrosylation of parkin regulates its E3 ubiquitin ligase activity
    • Epub 2004 Jul 13
    • Yao D, Gu Z, Nakamura T, Shi ZQ, Ma Y, Gaston B et al. Nitrosative stress linked to sporadic Parkinson's disease: S-nitrosylation of parkin regulates its E3 ubiquitin ligase activity. Proc Natl Acad Sci USA 2004;101:10810-4. Epub 2004 Jul 13.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 10810-10814
    • Yao, D.1    Gu, Z.2    Nakamura, T.3    Shi, Z.Q.4    Ma, Y.5    Gaston, B.6
  • 44
    • 0037422010 scopus 로고    scopus 로고
    • Parkin is a component of an SCF-like ubiquitin ligase complex and protects post-mitotic neurons from kainate excitotoxicity
    • Staropoli JF, McDermott C, Martinat C, Schulman B, Demireva E, Abeliovich A. Parkin is a component of an SCF-like ubiquitin ligase complex and protects post-mitotic neurons from kainate excitotoxicity. Neuron 2003;37:735-49.
    • (2003) Neuron , vol.37 , pp. 735-749
    • Staropoli, J.F.1    McDermott, C.2    Martinat, C.3    Schulman, B.4    Demireva, E.5    Abeliovich, A.6
  • 45
    • 10744220754 scopus 로고    scopus 로고
    • The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: Linking protein biosynthesis and neurodegeneration
    • Corti O, Hampe C, Koutnikova H, Darios F, Jacquier S, Prigent A et al. The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegeneration. Hum Mol Genet 2003;12:1427-37.
    • (2003) Hum Mol Genet , vol.12 , pp. 1427-1437
    • Corti, O.1    Hampe, C.2    Koutnikova, H.3    Darios, F.4    Jacquier, S.5    Prigent, A.6
  • 47
    • 0141891953 scopus 로고    scopus 로고
    • Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons
    • Goldberg MS, Fleming SM, Palacino JJ, Cepeda C, Lam HA, Bhatnagar A et al. Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons. J Biol Chem 2003;278:43628-35.
    • (2003) J Biol Chem , vol.278 , pp. 43628-43635
    • Goldberg, M.S.1    Fleming, S.M.2    Palacino, J.J.3    Cepeda, C.4    Lam, H.A.5    Bhatnagar, A.6
  • 48
    • 10744221310 scopus 로고    scopus 로고
    • Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse
    • Itier JM, Ibanez P, Mena MA, Abbas N, Cohen-Salmon C, Bohme GA et al. Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse. Hum Mol Genet 2003;12:2277-91.
    • (2003) Hum Mol Genet , vol.12 , pp. 2277-2291
    • Itier, J.M.1    Ibanez, P.2    Mena, M.A.3    Abbas, N.4    Cohen-Salmon, C.5    Bohme, G.A.6
  • 51
    • 0036151884 scopus 로고    scopus 로고
    • Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset
    • Bonifati V, Breedveld GJ, Squitieri F, Vanacore N, Brustenghi P, Harhangi BS et al. Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset. Ann Neurol 2002;51:253-6.
    • (2002) Ann Neurol , vol.51 , pp. 253-256
    • Bonifati, V.1    Breedveld, G.J.2    Squitieri, F.3    Vanacore, N.4    Brustenghi, P.5    Harhangi, B.S.6
  • 52
    • 0037428241 scopus 로고    scopus 로고
    • Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
    • Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 2003;299:256-9.
    • (2003) Science , vol.299 , pp. 256-259
    • Bonifati, V.1    Rizzu, P.2    Van Baren, M.J.3    Schaap, O.4    Breedveld, G.J.5    Krieger, E.6
  • 54
    • 0043204995 scopus 로고    scopus 로고
    • Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation
    • Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M et al. Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol 2003;54:271-4.
    • (2003) Ann Neurol , vol.54 , pp. 271-274
    • Hague, S.1    Rogaeva, E.2    Hernandez, D.3    Gulick, C.4    Singleton, A.5    Hanson, M.6
  • 55
    • 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, Hering R, Wellenbrock C, Weiss PH et al. DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology 2004;62:389-94.
    • (2004) Neurology , vol.62 , pp. 389-394
    • Hedrich, K.1    Djarmati, A.2    Schafer, N.3    Hering, R.4    Wellenbrock, C.5    Weiss, P.H.6
  • 56
    • 1642379155 scopus 로고    scopus 로고
    • Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease
    • Bonifati V, Oostra BA, Heutink P. Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease. J Mol Med 2004;82:163-74.
    • (2004) J Mol Med , vol.82 , pp. 163-174
    • Bonifati, V.1    Oostra, B.A.2    Heutink, P.3
  • 57
    • 13944279784 scopus 로고    scopus 로고
    • Sensitivity to oxidative stress in DJ-1-deficient dopamine neurons: An ES- derived cell model of primary parkinsonism
    • Martinat C, Shendelman S, Jonason A, Leete T, Beal MF, Yang L et al. Sensitivity to oxidative stress in DJ-1-deficient dopamine neurons: an ES- derived cell model of primary parkinsonism. PLoS Biol 2004;2:e327.
    • (2004) PLoS Biol , vol.2
    • Martinat, C.1    Shendelman, S.2    Jonason, A.3    Leete, T.4    Beal, M.F.5    Yang, L.6
  • 58
  • 59
    • 13944267769 scopus 로고    scopus 로고
    • DJ-1 is a redox-dependent molecular chaperone that inhibits alpha-synuclein aggregate formation
    • Shendelman S, Jonason A, Martinat C, Leete T, Abeliovich A. DJ-1 is a redox-dependent molecular chaperone that inhibits alpha-synuclein aggregate formation. PLoS Biol 2004;2:e362.
    • (2004) PLoS Biol , vol.2
    • Shendelman, S.1    Jonason, A.2    Martinat, C.3    Leete, T.4    Abeliovich, A.5
  • 61
    • 2942689352 scopus 로고    scopus 로고
    • Pathological properties of the Parkinson's disease-associated protein DJ-1 in alpha-synucleinopathies and tauopathies: Relevance for multiple system atrophy and Pick's disease
    • Epub 2004 Feb 26
    • Neumann M, Muller V, Gorner K, Kretzschmar HA, Haass C, Kahle PJ. Pathological properties of the Parkinson's disease-associated protein DJ-1 in alpha-synucleinopathies and tauopathies: relevance for multiple system atrophy and Pick's disease. Acta Neuropathol (Berl) 2004;107:489-96. Epub 2004 Feb 26.
    • (2004) Acta Neuropathol (Berl) , vol.107 , pp. 489-496
    • Neumann, M.1    Muller, V.2    Gorner, K.3    Kretzschmar, H.A.4    Haass, C.5    Kahle, P.J.6
  • 62
    • 0035068574 scopus 로고    scopus 로고
    • Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36
    • Valente EM, Bentivoglio AR, Dixon PH, Ferraris A, Ialongo T, Frontali M et al. Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36. Am J Hum Genet 2001;68:895-900.
    • (2001) Am J Hum Genet , vol.68 , pp. 895-900
    • Valente, E.M.1    Bentivoglio, A.R.2    Dixon, P.H.3    Ferraris, A.4    Ialongo, T.5    Frontali, M.6
  • 64
    • 7044236967 scopus 로고    scopus 로고
    • PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations
    • Hatano Y, Sato K, Elibol B, Yoshino H, Yamamura Y, Bonifati V et al. PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations. Neurology 2004;63:1482-5.
    • (2004) Neurology , vol.63 , pp. 1482-1485
    • Hatano, Y.1    Sato, K.2    Elibol, B.3    Yoshino, H.4    Yamamura, Y.5    Bonifati, V.6
  • 65
    • 2442668926 scopus 로고    scopus 로고
    • Hereditary early-onset Parkinson's disease caused by mutations in PINK1
    • Epub 2004 Apr 15
    • Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 2004;304:1158-60. Epub 2004 Apr 15.
    • (2004) Science , vol.304 , pp. 1158-1160
    • Valente, E.M.1    Abou-Sleiman, P.M.2    Caputo, V.3    Muqit, M.M.4    Harvey, K.5    Gispert, S.6
  • 72
    • 10744221687 scopus 로고    scopus 로고
    • A haplotype at the PARK3 locus influences onset age for Parkinson's disease: The GenePD study
    • Karamohamed S, DeStefano AL, Wilk JB, Shoemaker CM, Golbe LI, Mark MH et al. A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study. Neurology 2003;61:1557-61.
    • (2003) Neurology , vol.61 , pp. 1557-1561
    • Karamohamed, S.1    Destefano, A.L.2    Wilk, J.B.3    Shoemaker, C.M.4    Golbe, L.I.5    Mark, M.H.6
  • 73
    • 0034796326 scopus 로고    scopus 로고
    • Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36
    • Hampshire DJ, Roberts E, Crow Y, Bond J, Mubaidin A, Wriekat AL et al. Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. J Med Genet 2001;38:680-2.
    • (2001) J Med Genet , vol.38 , pp. 680-682
    • Hampshire, D.J.1    Roberts, E.2    Crow, Y.3    Bond, J.4    Mubaidin, A.5    Wriekat, A.L.6
  • 75
    • 3843147574 scopus 로고    scopus 로고
    • Chromosome 1 and Other Hotspots for Parkinson's Disease Genes
    • Kahle P, Haass C, editors. Eurekah.com (freely available in PubMed Bookshelf)
    • Bonifati V, Heutink P. Chromosome 1 and Other Hotspots for Parkinson's Disease Genes. In: Kahle P, Haass C, editors. Molecular Mechanisms of Parkinson's disease. 2004;Eurekah.com (freely available in PubMed Bookshelf).
    • (2004) Molecular Mechanisms of Parkinson's Disease
    • Bonifati, V.1    Heutink, P.2
  • 76
    • 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 JR, Zimprich A, Breteler MM, Meco G et al. Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease. J Med Genet 2004;41:900-7.
    • (2004) J Med Genet , vol.41 , pp. 900-907
    • Martinez, M.1    Brice, A.2    Vaughan, J.R.3    Zimprich, A.4    Breteler, M.M.5    Meco, G.6
  • 79
    • 10744223494 scopus 로고    scopus 로고
    • Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families
    • Epub 2003 Aug 12
    • Pankratz N, Nichols WC, Uniacke SK, Halter C, Murrell J, Rudolph A et al. Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families. Hum Mol Genet 2003;12:2599-608. Epub 2003 Aug 12.
    • (2003) Hum Mol Genet , vol.12 , pp. 2599-2608
    • Pankratz, N.1    Nichols, W.C.2    Uniacke, S.K.3    Halter, C.4    Murrell, J.5    Rudolph, A.6
  • 80
    • 10744224825 scopus 로고    scopus 로고
    • Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron
    • Osaka H, Wang YL, Takada K, Takizawa S, Setsuie R, Li H et al. Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron. Hum Mol Genet 2003;12:1945-58.
    • (2003) Hum Mol Genet , vol.12 , pp. 1945-1958
    • Osaka, H.1    Wang, Y.L.2    Takada, K.3    Takizawa, S.4    Setsuie, R.5    Li, H.6
  • 84
    • 0141792225 scopus 로고    scopus 로고
    • Point mutations in exon 1 of the NR4A2 gene are not a major cause of familial Parkinson's disease
    • Zimprich A, Asmus F, Leitner P, Castro M, Bereznai B, Homann N et al. Point mutations in exon 1 of the NR4A2 gene are not a major cause of familial Parkinson's disease. Neurogenetics 2003;4:219-20.
    • (2003) Neurogenetics , vol.4 , pp. 219-220
    • Zimprich, A.1    Asmus, F.2    Leitner, P.3    Castro, M.4    Bereznai, B.5    Homann, N.6
  • 87
    • 3843050571 scopus 로고    scopus 로고
    • Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease
    • Nichols WC, Uniacke SK, Pankratz N, Reed T, Simon DK, Halter C et al. Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease. Mov Disord 2004;19:649-55.
    • (2004) Mov Disord , vol.19 , pp. 649-655
    • Nichols, W.C.1    Uniacke, S.K.2    Pankratz, N.3    Reed, T.4    Simon, D.K.5    Halter, C.6
  • 88
    • 0032952414 scopus 로고    scopus 로고
    • Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions
    • Engelender S, Kaminsky Z, Guo X, Sharp AH, Amaravi RK, Kleiderlein JJ et al. Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions. Nat Genet 1999;22:110-4.
    • (1999) Nat Genet , vol.22 , pp. 110-114
    • Engelender, S.1    Kaminsky, Z.2    Guo, X.3    Sharp, A.H.4    Amaravi, R.K.5    Kleiderlein, J.J.6
  • 91
    • 12444281013 scopus 로고    scopus 로고
    • Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease
    • Marx FP, Holzmann C, Strauss KM, Li L, Eberhardt O, Gerhardt E et al. Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease. Hum Mol Genet 2003;12:1223-31.
    • (2003) Hum Mol Genet , vol.12 , pp. 1223-1231
    • Marx, F.P.1    Holzmann, C.2    Strauss, K.M.3    Li, L.4    Eberhardt, O.5    Gerhardt, E.6
  • 92
    • 0035861048 scopus 로고    scopus 로고
    • Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease
    • Martin ER, Scott WK, Nance MA, Watts RL, Hubble JP, Koller WC et al. Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. JAMA 2001;286:2245-50.
    • (2001) JAMA , vol.286 , pp. 2245-2250
    • Martin, E.R.1    Scott, W.K.2    Ma, N.3    Watts, R.L.4    Hubble, J.P.5    Koller, W.C.6
  • 93
  • 94
    • 0346121529 scopus 로고    scopus 로고
    • Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease
    • Epub 2003 Oct 21
    • Li YJ, Oliveira SA, Xu P, Martin ER, Stenger JE, Scherzer CR et al. Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease. Hum Mol Genet 2003;12:3259-67. Epub 2003 Oct 21.
    • (2003) Hum Mol Genet , vol.12 , pp. 3259-3267
    • Li, Y.J.1    Oliveira, S.A.2    Xu, P.3    Martin, E.R.4    Stenger, J.E.5    Scherzer, C.R.6
  • 95
    • 2442642599 scopus 로고    scopus 로고
    • Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease
    • Epub 2004 Apr 30
    • van der Walt JM, Noureddine MA, Kittappa R, Hauser MA, Scott WK, McKay R et al. Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease. Am J Hum Genet 2004;74:1121-7. Epub 2004 Apr 30.
    • (2004) Am J Hum Genet , vol.74 , pp. 1121-1127
    • Van Der Walt, J.M.1    Noureddine, M.A.2    Kittappa, R.3    Hauser, M.A.4    Scott, W.K.5    McKay, R.6
  • 96
    • 10744226248 scopus 로고    scopus 로고
    • A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's disease
    • Healy DG, Abou-Sleiman PM, Ozawa T, Lees AJ, Bhatia K, Ahmadi KR et al. A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's disease. Ann Neurol 2004;55:443-6.
    • (2004) Ann Neurol , vol.55 , pp. 443-446
    • Healy, D.G.1    Abou-Sleiman, P.M.2    Ozawa, T.3    Lees, A.J.4    Bhatia, K.5    Ahmadi, K.R.6
  • 97
    • 7444237665 scopus 로고    scopus 로고
    • Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
    • Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2004;351:1972-7.
    • (2004) N Engl J Med , vol.351 , pp. 1972-1977
    • Aharon-Peretz, J.1    Rosenbaum, H.2    Gershoni-Baruch, R.3
  • 98
    • 0141841634 scopus 로고    scopus 로고
    • Gene expression changes presage neurodegeneration in a Drosophila model of Parkinson's disease
    • Epub 2003 Aug 5
    • Scherzer CR, Jensen RV, Gullans SR, Feany MB. Gene expression changes presage neurodegeneration in a Drosophila model of Parkinson's disease. Hum Mol Genet 2003:12:2457-66. Epub 2003 Aug 5.
    • (2003) Hum Mol Genet , vol.12 , pp. 2457-2466
    • Scherzer, C.R.1    Jensen, R.V.2    Gullans, S.R.3    Feany, M.B.4
  • 99
    • 19944428747 scopus 로고    scopus 로고
    • Gene expression profiling of parkinsonian substantia nigra pars compacta; alterations in ubiquitin-proteasome, heat shock protein, iron and oxidative stress regulated proteins, cell adhesion/cellular matrix and vesicle trafficking genes
    • Grunblatt E, Mandel S, Jacob-Hirsch J, Zeligson S, Amariglo N, Rechavi G et al. Gene expression profiling of parkinsonian substantia nigra pars compacta; alterations in ubiquitin-proteasome, heat shock protein, iron and oxidative stress regulated proteins, cell adhesion/cellular matrix and vesicle trafficking genes. J Neural Transm 2004;111:1543-73.
    • (2004) J Neural Transm , vol.111 , pp. 1543-1573
    • Grunblatt, E.1    Mandel, S.2    Jacob-Hirsch, J.3    Zeligson, S.4    Amariglo, N.5    Rechavi, G.6


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