메뉴 건너뛰기




Volumn , Issue , 2008, Pages 9-33

Genetics of Parkinson's Disease

Author keywords

[No Author keywords available]

Indexed keywords


EID: 58549112497     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-374028-1.00002-6     Document Type: Chapter
Times cited : (5)

References (154)
  • 5
    • 78649788201 scopus 로고    scopus 로고
    • The PDGene Database, Alzheimer Research Forum, Available at
    • Bagade, S., Allen, N.C., Tanzi, R., Bertram, L. The PDGene Database, Alzheimer Research Forum, Available at. http://www.pdgene.org/.
    • Bagade, S.1    Allen, N.C.2    Tanzi, R.3    Bertram, L.4
  • 8
    • 0030587511 scopus 로고    scopus 로고
    • The GTP-cyclohydrolase I gene in atypical parkinsonian patients: A clinico-genetic study
    • Bandmann O., Daniel S., Marsden C.D., Wood N.W., Harding A.E. The GTP-cyclohydrolase I gene in atypical parkinsonian patients: A clinico-genetic study. J Neurol Sci 1996, 141:27-32.
    • (1996) J Neurol Sci , vol.141 , pp. 27-32
    • Bandmann, O.1    Daniel, S.2    Marsden, C.D.3    Wood, N.W.4    Harding, A.E.5
  • 17
    • 3242722517 scopus 로고    scopus 로고
    • Paying the price at the pump: Dystonia from mutations in a Na+/K+-ATPase
    • Cannon S.C. Paying the price at the pump: Dystonia from mutations in a Na+/K+-ATPase. Neuron 2004, 43:153-154.
    • (2004) Neuron , vol.43 , pp. 153-154
    • Cannon, S.C.1
  • 21
    • 0030905501 scopus 로고    scopus 로고
    • Normal and pathological Tau proteins as factors for microtubule assembly
    • Delacourte A., Buee L. Normal and pathological Tau proteins as factors for microtubule assembly. Int Rev Cytol 1997, 171:167-224.
    • (1997) Int Rev Cytol , vol.171 , pp. 167-224
    • Delacourte, A.1    Buee, L.2
  • 25
    • 0029657947 scopus 로고    scopus 로고
    • Cytoskeletal pathology in non-Alzheimer degenerative dementia: New lesions in diffuse Lewy body disease, Pick's disease, and corticobasal degeneration
    • Dickson D.W., Feany M.B., Yen S.H., Mattiace L.A., Davies P. Cytoskeletal pathology in non-Alzheimer degenerative dementia: New lesions in diffuse Lewy body disease, Pick's disease, and corticobasal degeneration. J Neural Transm Suppl 1996, 47:31-46.
    • (1996) J Neural Transm Suppl , vol.47 , pp. 31-46
    • Dickson, D.W.1    Feany, M.B.2    Yen, S.H.3    Mattiace, L.A.4    Davies, P.5
  • 35
    • 33645116252 scopus 로고    scopus 로고
    • Genetics of Parkinson disease: Paradigm shifts and future prospects
    • Farrer M.J. Genetics of Parkinson disease: Paradigm shifts and future prospects. Nat Rev Genet 2006, 7:306-318.
    • (2006) Nat Rev Genet , vol.7 , pp. 306-318
    • Farrer, M.J.1
  • 39
    • 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
  • 46
    • 0024745894 scopus 로고
    • Multiple isoforms of human microtubule-associated protein tau: Sequences and localization in neurofibrillary tangles of Alzheimer's disease
    • Goedert M., Spillantini M.G., Jakes R., Rutherford D., Crowther R.A. Multiple isoforms of human microtubule-associated protein tau: Sequences and localization in neurofibrillary tangles of Alzheimer's disease. Neuron 1989, 3:519-526.
    • (1989) Neuron , vol.3 , pp. 519-526
    • Goedert, M.1    Spillantini, M.G.2    Jakes, R.3    Rutherford, D.4    Crowther, R.A.5
  • 47
    • 0032214501 scopus 로고    scopus 로고
    • Tau mutations cause frontotemporal dementias
    • Goedert M., Crowther R.A., Spillantini M.G. Tau mutations cause frontotemporal dementias. Neuron 1998, 21:955-958.
    • (1998) Neuron , vol.21 , pp. 955-958
    • Goedert, M.1    Crowther, R.A.2    Spillantini, M.G.3
  • 50
    • 0034796326 scopus 로고    scopus 로고
    • Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36
    • Hampshire D.J., Roberts E., Crow Y., Bond J., Mubaidin A., Wriekat A.L., Al-Din A., Woods C.G. Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. J Med Genet 2001, 38:680-682.
    • (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    Al-Din, A.7    Woods, C.G.8
  • 51
    • 0242320195 scopus 로고    scopus 로고
    • Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis
    • He Z., Bateman A. Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis. J Mol Med 2003, 81:600-612.
    • (2003) J Mol Med , vol.81 , pp. 600-612
    • He, Z.1    Bateman, A.2
  • 52
    • 0037329891 scopus 로고    scopus 로고
    • Progranulin is a mediator of the wound response
    • He Z., Ong C.H., Halper J., Bateman A. Progranulin is a mediator of the wound response. Nat Med 2003, 9:225-229.
    • (2003) Nat Med , vol.9 , pp. 225-229
    • He, Z.1    Ong, C.H.2    Halper, J.3    Bateman, A.4
  • 55
    • 0034971707 scopus 로고    scopus 로고
    • Missense and splice site mutations in tau associated with FTDP-17: Multiple pathogenic mechanisms
    • Hutton M. Missense and splice site mutations in tau associated with FTDP-17: Multiple pathogenic mechanisms. Neurology 2001, 56:S21-sS25.
    • (2001) Neurology , vol.56
    • Hutton, M.1
  • 59
    • 0030015934 scopus 로고    scopus 로고
    • Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism
    • Ishikawa A., Tsuji S. Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism. Neurology 1996, 47:160-166.
    • (1996) Neurology , vol.47 , pp. 160-166
    • Ishikawa, A.1    Tsuji, S.2
  • 60
    • 33846818834 scopus 로고    scopus 로고
    • GTP binding is essential to the protein kinase activity of LRRK2, a causative gene product for familial Parkinson's disease
    • Ito G., Okai T., Fujino G., Takeda K., Ichijo H., Katada T., Iwatsubo T. GTP binding is essential to the protein kinase activity of LRRK2, a causative gene product for familial Parkinson's disease. Biochemistry 2007, 46:1380-1388.
    • (2007) Biochemistry , vol.46 , pp. 1380-1388
    • Ito, G.1    Okai, T.2    Fujino, G.3    Takeda, K.4    Ichijo, H.5    Katada, T.6    Iwatsubo, T.7
  • 61
    • 34447118788 scopus 로고    scopus 로고
    • LRRK2 phosphorylates moesin at Thr558; characterisation of how Parkinson's disease mutants affect kinase activity
    • Jaleel M., Nichols R.J., Deak M., Campbell D.G., Gillardon F., Knebel A., Alessi D.R. LRRK2 phosphorylates moesin at Thr558; characterisation of how Parkinson's disease mutants affect kinase activity. Biochem J. 2007, 43.
    • (2007) Biochem J. , vol.43
    • Jaleel, M.1    Nichols, R.J.2    Deak, M.3    Campbell, D.G.4    Gillardon, F.5    Knebel, A.6    Alessi, D.R.7
  • 68
    • 0024641959 scopus 로고
    • Developmentally regulated expression of specific tau sequences
    • Kosik K.S., Orecchio L.D., Bakalis S., Neve R.L. Developmentally regulated expression of specific tau sequences. Neuron 1989, 2:1389-1397.
    • (1989) Neuron , vol.2 , pp. 1389-1397
    • Kosik, K.S.1    Orecchio, L.D.2    Bakalis, S.3    Neve, R.L.4
  • 75
    • 0033525009 scopus 로고    scopus 로고
    • Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease
    • Lincoln S., Vaughan J., Wood N., Baker M., Adamson J., Gwinn-Hardy K., Lynch T., Hardy J., Farrer M. Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease. Neuroreport 1999, 10:427-429.
    • (1999) Neuroreport , vol.10 , pp. 427-429
    • Lincoln, S.1    Vaughan, J.2    Wood, N.3    Baker, M.4    Adamson, J.5    Gwinn-Hardy, K.6    Lynch, T.7    Hardy, J.8    Farrer, M.9
  • 79
    • 33751256567 scopus 로고    scopus 로고
    • The familial Parkinsonism gene LRRK2 regulates neurite process morphology
    • MacLeod D., Dowman J., Hammond R., Leete T., Inoue K., Abeliovich A. The familial Parkinsonism gene LRRK2 regulates neurite process morphology. Neuron 2006, 52:587-593.
    • (2006) Neuron , vol.52 , pp. 587-593
    • MacLeod, D.1    Dowman, J.2    Hammond, R.3    Leete, T.4    Inoue, K.5    Abeliovich, A.6
  • 80
    • 0037127197 scopus 로고    scopus 로고
    • The herbicide paraquat causes up-regulation and aggregation of alpha-synuclein in mice: Paraquat and alpha-synuclein
    • Manning-Bog A.B., McCormack A.L., Li J., Uversky V.N., Fink A.L., Di Monte D.A. The herbicide paraquat causes up-regulation and aggregation of alpha-synuclein in mice: Paraquat and alpha-synuclein. J Biol Chem 2002, 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
  • 81
    • 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., Rocca W.A. Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease. Neurology 1999, 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
  • 88
    • 1842455356 scopus 로고    scopus 로고
    • Parkin genetics: One model for Parkinson's disease
    • Mata I.F., Lockhart P.J., Farrer M.J. Parkin genetics: One model for Parkinson's disease. Hum Mol Genet 2004, 13(Spec No 1):R127-rR133.
    • (2004) Hum Mol Genet , vol.13 , Issue.SPEC NO 1
    • Mata, I.F.1    Lockhart, P.J.2    Farrer, M.J.3
  • 92
    • 0025954861 scopus 로고
    • Immunofluorescent localization of three Na,K-ATPase isozymes in the rat central nervous system: Both neurons and glia can express more than one Na,K-ATPase
    • McGrail K.M., Phillips J.M., Sweadner K.J. Immunofluorescent localization of three Na,K-ATPase isozymes in the rat central nervous system: Both neurons and glia can express more than one Na,K-ATPase. J Neurosci 1991, 11:381-391.
    • (1991) J Neurosci , vol.11 , pp. 381-391
    • McGrail, K.M.1    Phillips, J.M.2    Sweadner, K.J.3
  • 94
    • 0035692636 scopus 로고    scopus 로고
    • DJ-1 is an indicator for endogenous reactive oxygen species elicited by endotoxin
    • Mitsumoto A., Nakagawa Y. DJ-1 is an indicator for endogenous reactive oxygen species elicited by endotoxin. Free Radic Res 2001, 35:885-893.
    • (2001) Free Radic Res , vol.35 , pp. 885-893
    • Mitsumoto, A.1    Nakagawa, Y.2
  • 96
    • 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., Tachikawa M., Nakabayashi Y., Kanazawa I., Toda T. Association studies of multiple candidate genes for Parkinson's disease using single nucleotide polymorphisms. Ann Neurol 2002, 51:133-136.
    • (2002) Ann Neurol , vol.51 , pp. 133-136
    • Momose, Y.1    Murata, M.2    Kobayashi, K.3    Tachikawa, M.4    Nakabayashi, Y.5    Kanazawa, I.6    Toda, T.7
  • 97
    • 0242558789 scopus 로고    scopus 로고
    • Polymorphism in the human DJ-1 gene is not associated with sporadic dementia with Lewy bodies or Parkinson's disease
    • Morris C.M., O'Brien K.K., Gibson A.M., Hardy J.A., Singleton A.B. Polymorphism in the human DJ-1 gene is not associated with sporadic dementia with Lewy bodies or Parkinson's disease. Neurosci Lett 2003, 352:151-153.
    • (2003) Neurosci Lett , vol.352 , pp. 151-153
    • Morris, C.M.1    O'Brien, K.K.2    Gibson, A.M.3    Hardy, J.A.4    Singleton, A.B.5
  • 100
    • 0028298816 scopus 로고
    • Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome
    • Najim al-Din A.S., Wriekat A., Mubaidin A., Dasouki M., Hiari M. Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. Acta Neurol Scand 1994, 89:347-352.
    • (1994) Acta Neurol Scand , vol.89 , pp. 347-352
    • Najim al-Din, A.S.1    Wriekat, A.2    Mubaidin, A.3    Dasouki, M.4    Hiari, M.5
  • 101
    • 0036212214 scopus 로고    scopus 로고
    • The genetics of primary dystonias and related disorders
    • Nemeth A.H. The genetics of primary dystonias and related disorders. Brain 2002, 125:695-721.
    • (2002) Brain , vol.125 , pp. 695-721
    • Nemeth, A.H.1
  • 106
    • 0032547839 scopus 로고    scopus 로고
    • Suppression of radixin and moesin alters growth cone morphology, motility, and process formation in primary cultured neurons
    • Paglini G., Kunda P., Quiroga S., Kosik K., Caceres A. Suppression of radixin and moesin alters growth cone morphology, motility, and process formation in primary cultured neurons. J Cell Biol 1998, 143:443-455.
    • (1998) J Cell Biol , vol.143 , pp. 443-455
    • Paglini, G.1    Kunda, P.2    Quiroga, S.3    Kosik, K.4    Caceres, A.5
  • 111
    • 19044361911 scopus 로고    scopus 로고
    • An essay on the shaking palsy. 1817
    • discussion 222
    • Parkinson J. An essay on the shaking palsy. 1817. J Neuropsychiatry Clin Neurosci 2002, 14:223-236. discussion 222.
    • (2002) J Neuropsychiatry Clin Neurosci , vol.14 , pp. 223-236
    • Parkinson, J.1
  • 112
    • 0032913951 scopus 로고    scopus 로고
    • The role of inheritance in sporadic Parkinson's disease: Evidence from a longitudinal study of dopaminergic function in twins
    • Piccini P., Burn D.J., Ceravolo R., Maraganore D., Brooks D.J. The role of inheritance in sporadic Parkinson's disease: Evidence from a longitudinal study of dopaminergic function in twins. Ann Neurol 1999, 45:577-582.
    • (1999) Ann Neurol , vol.45 , pp. 577-582
    • Piccini, P.1    Burn, D.J.2    Ceravolo, R.3    Maraganore, D.4    Brooks, D.J.5
  • 119
    • 0034660559 scopus 로고    scopus 로고
    • Searching for genetic determinants in the new millennium
    • Risch N.J. Searching for genetic determinants in the new millennium. Nature 2000, 405:847-856.
    • (2000) Nature , vol.405 , pp. 847-856
    • Risch, N.J.1
  • 122
    • 34249078492 scopus 로고    scopus 로고
    • Common variants in Parkinson's disease
    • Ross O.A., Farrer M.J., Wu R.M. Common variants in Parkinson's disease. Mov Disord 2007, 22:899-900.
    • (2007) Mov Disord , vol.22 , pp. 899-900
    • Ross, O.A.1    Farrer, M.J.2    Wu, R.M.3
  • 124
    • 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., Kuroda Y. 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 2001, 189:113-117.
    • (2001) J Neurol Sci , vol.189 , pp. 113-117
    • Satoh, J.1    Kuroda, Y.2
  • 125
    • 0027256104 scopus 로고
    • Parkinson's disease: A test of the multifactorial etiologic hypothesis
    • Semchuk K.M., Love E.J., Lee R.G. Parkinson's disease: A test of the multifactorial etiologic hypothesis. Neurology 1993, 43:1173-1180.
    • (1993) Neurology , vol.43 , pp. 1173-1180
    • Semchuk, K.M.1    Love, E.J.2    Lee, R.G.3
  • 131
    • 28744453588 scopus 로고    scopus 로고
    • Comprehensive evaluation of common genetic variation within LRRK2 reveals evidence for association with sporadic Parkinson's disease
    • Skipper L., Li Y., Bonnard C., Pavanni R., Yih Y., Chua E., Sung W.K., Tan L., Wong M.C., Tan E.K., Liu J. Comprehensive evaluation of common genetic variation within LRRK2 reveals evidence for association with sporadic Parkinson's disease. Hum Mol Genet 2005, 14:3549-3556.
    • (2005) Hum Mol Genet , vol.14 , pp. 3549-3556
    • Skipper, L.1    Li, Y.2    Bonnard, C.3    Pavanni, R.4    Yih, Y.5    Chua, E.6    Sung, W.K.7    Tan, L.8    Wong, M.C.9    Tan, E.K.10    Liu, J.11
  • 135
    • 0034785591 scopus 로고    scopus 로고
    • A serine protease, HtrA2, is released from the mitochondria and interacts with XIAP, inducing cell death
    • Suzuki Y., Imai Y., Nakayama H., Takahashi K., Takio K., Takahashi R. A serine protease, HtrA2, is released from the mitochondria and interacts with XIAP, inducing cell death. Mol Cell 2001, 8:613-621.
    • (2001) Mol Cell , vol.8 , pp. 613-621
    • Suzuki, Y.1    Imai, Y.2    Nakayama, H.3    Takahashi, K.4    Takio, K.5    Takahashi, R.6
  • 150
    • 3242807321 scopus 로고    scopus 로고
    • No evidence for heritability of Parkinson disease in Swedish twins
    • Wirdefeldt K., Gatz M., Schalling M., Pedersen N.L. No evidence for heritability of Parkinson disease in Swedish twins. Neurology 2004, 63:305-311.
    • (2004) Neurology , vol.63 , pp. 305-311
    • Wirdefeldt, K.1    Gatz, M.2    Schalling, M.3    Pedersen, N.L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.