메뉴 건너뛰기




Volumn 24, Issue 3, 2007, Pages 305-309

PINK1 IVS5-5 G > a polymorphism may contribute to the risk of late onset Parkinson disease in Chinese

Author keywords

Association study; Genetic susceptibility; Parkinson disease; PINK1 gene; Single nucleotide polymorphism

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PTEN INDUCED KINASE 1; UNCLASSIFIED DRUG;

EID: 34250815082     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (4)

References (24)
  • 1
    • 2442668926 scopus 로고    scopus 로고
    • Hereditary early-onset Parkinson's disease caused by mutations in PINK1
    • Valente EM, Abou-Sleiman PM, Caputo V, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science, 2004,304: 1158-1160.
    • (2004) Science , vol.304 , pp. 1158-1160
    • Valente, E.M.1    Abou-Sleiman, P.M.2    Caputo, V.3
  • 2
    • 22044432781 scopus 로고    scopus 로고
    • Early-onset parkinsonism associated with PINK1 mutations: Frequency, genotypes, and phenotypes
    • Bonifati V, Rohe CF, Breedveld GJ, et al. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology, 2005, 65:87-95.
    • (2005) Neurology , vol.65 , pp. 87-95
    • Bonifati, V.1    Rohe, C.F.2    Breedveld, G.J.3
  • 3
    • 4444274910 scopus 로고    scopus 로고
    • PINK1 mutations are associated with sporadic early-onset parkinsonism
    • Valente EM, Salvi S, Ialongo T, et al. PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol, 2004, 56:336-341.
    • (2004) Ann Neurol , vol.56 , pp. 336-341
    • Valente, E.M.1    Salvi, S.2    Ialongo, T.3
  • 4
    • 4444237208 scopus 로고    scopus 로고
    • Novel PINK1 mutations in early-onset parkinsonism
    • Hatano Y, Li Y, Sato K, et al. Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol, 2004, 56:424-427.
    • (2004) Ann Neurol , vol.56 , pp. 424-427
    • Hatano, Y.1    Li, Y.2    Sato, K.3
  • 5
    • 33745845523 scopus 로고    scopus 로고
    • PINK1 mutations in sporadic early-onset Parkinson's disease
    • Tan EK, Yew K, Chua E, et al. PINK1 mutations in sporadic early-onset Parkinson's disease. Mov Disord, 2006,21:789-793.
    • (2006) Mov Disord , vol.21 , pp. 789-793
    • Tan, E.K.1    Yew, K.2    Chua, E.3
  • 6
    • 30144445796 scopus 로고    scopus 로고
    • Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan
    • Fung HC, Chen CM, Hardy J, et al. Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. Neurosci Lett, 2006, 394:33-36.
    • (2006) Neurosci Lett , vol.394 , pp. 33-36
    • Fung, H.C.1    Chen, C.M.2    Hardy, J.3
  • 7
    • 33244482539 scopus 로고    scopus 로고
    • Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa
    • Ibanez P, Lesage S, Lohmann E, et al. Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. Brain, 2006, 129:686-694.
    • (2006) Brain , vol.129 , pp. 686-694
    • Ibanez, P.1    Lesage, S.2    Lohmann, E.3
  • 8
    • 21244445382 scopus 로고    scopus 로고
    • Mutation analysis of PINK1 gene in Chinese patients with autosomal recessive early-onset parkinsonism type 6
    • Zhang YH, Tang BS, Guo JF, et al. Mutation analysis of PINK1 gene in Chinese patients with autosomal recessive early-onset parkinsonism type 6. Natl Med J Chin, 2005, 85:1538-1541.
    • (2005) Natl Med J Chin , vol.85 , pp. 1538-1541
    • Zhang, Y.H.1    Tang, B.S.2    Guo, J.F.3
  • 9
    • 0026515731 scopus 로고
    • Core assessment program for intracerebral transplantations (CAPIT)
    • Langston JW, Widner H, Goetz CG, et al. Core assessment program for intracerebral transplantations (CAPIT). Mov Disord, 1992,7:2-13.
    • (1992) Mov Disord , vol.7 , pp. 2-13
    • Langston, J.W.1    Widner, H.2    Goetz, C.G.3
  • 10
    • 0026629509 scopus 로고
    • What features improve the accuracy of clinical diagnosis in Parkinson's disease: A clinico-pathological study
    • Hughes AJ, Ben-Shlomo Y, Daniel SE, et al. What features improve the accuracy of clinical diagnosis in Parkinson's disease: a clinico-pathological study. Neurology, 1992,42:1142-1146.
    • (1992) Neurology , vol.42 , pp. 1142-1146
    • Hughes, A.J.1    Ben-Shlomo, Y.2    Daniel, S.E.3
  • 11
    • 0034537609 scopus 로고    scopus 로고
    • High-throughput SNP detection by using DNA pooling and denaturing high performance liquid chromatography (DHPLC)
    • Wolford JK, Blunt D, Ballecer C, et al. High-throughput SNP detection by using DNA pooling and denaturing high performance liquid chromatography (DHPLC). Hum Genet, 2000,107:483-487.
    • (2000) Hum Genet , vol.107 , pp. 483-487
    • Wolford, J.K.1    Blunt, D.2    Ballecer, C.3
  • 12
    • 4844222408 scopus 로고    scopus 로고
    • alpha-Synuclein promoter confers susceptibility to Parkinson's disease
    • Pals P, Lincoln S, Manning J, et al. alpha-Synuclein promoter confers susceptibility to Parkinson's disease. Ann Neurol, 2004,56:591-595.
    • (2004) Ann Neurol , vol.56 , pp. 591-595
    • Pals, P.1    Lincoln, S.2    Manning, J.3
  • 13
    • 0037131567 scopus 로고    scopus 로고
    • The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility
    • Liu Y, Fallon L, Lashuel HA, et al. The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. Cell, 2002, 111:209-218.
    • (2002) Cell , vol.111 , pp. 209-218
    • Liu, Y.1    Fallon, L.2    Lashuel, H.A.3
  • 14
    • 0037108727 scopus 로고    scopus 로고
    • Functional association of the parkin gene promoter with idiopathic Parkinson's disease
    • West AB, Maraganore D, Crook J, et al. Functional association of the parkin gene promoter with idiopathic Parkinson's disease. Hum Mol Genet, 2002,11:2787-2792.
    • (2002) Hum Mol Genet , vol.11 , pp. 2787-2792
    • West, A.B.1    Maraganore, D.2    Crook, J.3
  • 15
    • 0038754178 scopus 로고    scopus 로고
    • Parkin mutations and susceptibility alleles in late onset Parkinson's disease
    • Oliveira SA, Scott WK, Martin ER, et al. Parkin mutations and susceptibility alleles in late onset Parkinson's disease. Ann Neurol, 2003,53:624-629.
    • (2003) Ann Neurol , vol.53 , pp. 624-629
    • Oliveira, S.A.1    Scott, W.K.2    Martin, E.R.3
  • 16
    • 12244262766 scopus 로고    scopus 로고
    • Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson's disease
    • Foroud T, Uniacke SK, Liu L, et al. Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson's disease. Neurology, 2003,60: 796-801.
    • (2003) Neurology , vol.60 , pp. 796-801
    • Foroud, T.1    Uniacke, S.K.2    Liu, L.3
  • 17
    • 19944432921 scopus 로고    scopus 로고
    • A common LRRK2 mutation in idiopathic Parkinson's disease
    • Gilks WP, Abou-Sleiman PM, Gandhi S, et al. A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet, 2005,365:415-416.
    • (2005) Lancet , vol.365 , pp. 415-416
    • Gilks, W.P.1    Abou-Sleiman, P.M.2    Gandhi, S.3
  • 18
    • 0036544858 scopus 로고    scopus 로고
    • A new type of mutation causes a splicing defect in ATM
    • Pagani F, Buratti E, Stuani C, et al. A new type of mutation causes a splicing defect in ATM. Nat Genet, 2002, 30:426-429.
    • (2002) Nat Genet , vol.30 , pp. 426-429
    • Pagani, F.1    Buratti, E.2    Stuani, C.3
  • 19
    • 20444399801 scopus 로고    scopus 로고
    • The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease
    • Albanese A, Valente EM, Romito LM, et al. The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease. Neurology, 2005, 64:1958-1960.
    • (2005) Neurology , vol.64 , pp. 1958-1960
    • Albanese, A.1    Valente, E.M.2    Romito, L.M.3
  • 20
    • 0033966774 scopus 로고    scopus 로고
    • Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis typel
    • Ars E, Serra E, Garcia J, et al. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis typel. Hum Mol Genet, 2000, 9:237-247.
    • (2000) Hum Mol Genet , vol.9 , pp. 237-247
    • Ars, E.1    Serra, E.2    Garcia, J.3
  • 21
    • 0036113829 scopus 로고    scopus 로고
    • A single nucleotide polymorphism at the splice donor site of the human MYH base excision repair genes results in reduced translation efficiency of its transcripts
    • Yamaguchi S, Shinmura K, Saitoh T, et al. A single nucleotide polymorphism at the splice donor site of the human MYH base excision repair genes results in reduced translation efficiency of its transcripts. Genes Cells, 2002,7:461-474.
    • (2002) Genes Cells , vol.7 , pp. 461-474
    • Yamaguchi, S.1    Shinmura, K.2    Saitoh, T.3
  • 22
    • 27944444154 scopus 로고    scopus 로고
    • Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism
    • Silvestri L, Caputo V, Bellacchio E, et al. Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum Mol Genet, 2005, 14:3477-3492.
    • (2005) Hum Mol Genet , vol.14 , pp. 3477-3492
    • Silvestri, L.1    Caputo, V.2    Bellacchio, E.3
  • 23
    • 26644440926 scopus 로고    scopus 로고
    • Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson's disease-related mutations
    • Petit A, Kawarai T, Paitel E, et al. Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson's disease-related mutations. J Biol Chem, 2005, 280:34025-34032.
    • (2005) J Biol Chem , vol.280 , pp. 34025-34032
    • Petit, A.1    Kawarai, T.2    Paitel, E.3
  • 24
    • 0036830525 scopus 로고    scopus 로고
    • A susceptibility gene for late-onset idiopathic Parkinson's disease
    • Hicks AA, Petursson H, Jonsson T, et al. A susceptibility gene for late-onset idiopathic Parkinson's disease. Ann Neurol, 2002,52:549-555.
    • (2002) Ann Neurol , vol.52 , pp. 549-555
    • Hicks, A.A.1    Petursson, H.2    Jonsson, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.