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Volumn 36, Issue 6, 2011, Pages 490-497

Mutation analysis of PINK1 gene in patients with early-onset Parkinsonism

Author keywords

DNA sequencing; Early onset Parkinsonism; Mutation; PINK1; Quantitative real time PCR

Indexed keywords

PROTEIN KINASE; PTEN INDUCED PUTATIVE KINASE; PTEN-INDUCED PUTATIVE KINASE;

EID: 79960759980     PISSN: 16727347     EISSN: None     Source Type: Journal    
DOI: 10.3969/j.issn.1672-7347.2011.06.004     Document Type: Article
Times cited : (2)

References (40)
  • 1
    • 0026514953 scopus 로고
    • Accuracy of clinical diagnosis of idiopathic Parkinson's disease; a clinico-pathological study of 100 cases [J]
    • Hughes A J, Daniel S E, Kilford L, et al. Accuracy of clinical diagnosis of idiopathic Parkinson's disease; a clinico-pathological study of 100 cases [J]. J Neurol Neurosurg Psychiatry, 1992, 55(3): 181-184.
    • (1992) J Neurol Neurosurg Psychiatry , vol.55 , Issue.3 , pp. 181-184
    • Hughes, A.J.1    Daniel, S.E.2    Kilford, L.3
  • 2
    • 79551586763 scopus 로고    scopus 로고
    • Diagnosis of Parkinson's disease [J]
    • Movement disorder and Parkinsonism Group, Neurology Society, Chinese Medical Association
    • Movement disorder and Parkinsonism Group, Neurology Society, Chinese Medical Association. Diagnosis of Parkinson's disease [J]. Chinese Journal of Neurology, 2006, 39(6): 408-409.
    • (2006) Chinese Journal of Neurology , vol.39 , Issue.6 , pp. 408-409
  • 7
    • 60849121924 scopus 로고    scopus 로고
    • Characterization of PLA2G6 as a locus for dystonia-parkinsonism [J]
    • Paisan-Ruiz C, Bhatia KP, Li A, et al. Characterization of PLA2G6 as a locus for dystonia-parkinsonism [J]. Ann Neurol, 2009, 65(1): 19-23.
    • (2009) Ann Neurol , vol.65 , Issue.1 , pp. 19-23
    • Paisan-Ruiz, C.1    Bhatia, K.P.2    Li, A.3
  • 8
    • 59649088353 scopus 로고    scopus 로고
    • FBX07 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome [J]
    • Di Fonzo A, Dekker MC, Montagna P, et al. FBX07 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome [J]. Neurology, 2009, 72(3): 240-245.
    • (2009) Neurology , vol.72 , Issue.3 , pp. 240-245
    • Di Fonzo, A.1    Dekker, M.C.2    Montagna, P.3
  • 14
    • 21244445382 scopus 로고    scopus 로고
    • Mutation analysis of PINK1 gene in Chinese patients with autosomal recessive early-onset parkinsonism type6 [J]
    • ZHANG Yuhu, TANG Beisha, GUO Jifeng, et al. Mutation analysis of PINK1 gene in Chinese patients with autosomal recessive early-onset parkinsonism type6 [J]. Chinese Medical Journal, 2005, 85(22): 1538-1541.
    • (2005) Chinese Medical Journal , vol.85 , Issue.22 , pp. 1538-1541
    • Zhang, Y.1    Tang, B.2    Guo, J.3
  • 15
    • 0033966774 scopus 로고    scopus 로고
    • Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
    • Ars E, Serra E, Garcia J, et al. Mutation affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1[J]. Hum Mol Genet, 2000, 9(2): 237-247. (Pubitemid 30052747)
    • (2000) Human Molecular Genetics , vol.9 , Issue.2 , pp. 237-247
    • Ars, E.1    Serra, E.2    Garcia, J.3    Kruyer, H.4    Gaona, A.5    Lazaro, C.6    Estivill, X.7
  • 16
    • 33646573962 scopus 로고    scopus 로고
    • A 62-year-old woman with early-onset Parkinson's disease associated with the PINK1 gene deletion
    • Atsumi M, Li Y, Tomiyama H, et al. A 62-year-old woman with early-onset Parkinson's disease associated with the PINK1 gene deletion [J]. Rinsho Shinkeigaku, 2006, 46 (3): 199-202. (Pubitemid 43761969)
    • (2006) Clinical Neurology , vol.46 , Issue.3 , pp. 199-202
    • Atsumi, M.1    Li, Y.2    Tomiyama, H.3    Sato, K.4    Hattori, N.5
  • 17
    • 34548019735 scopus 로고    scopus 로고
    • Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum[J]
    • Marongiu R, Brancati F, Antonini A, et al. Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum[J]. Hum Mutat, 2007, 28(1): 98.
    • (2007) Hum Mutat , vol.28 , Issue.1 , pp. 98
    • Marongiu, R.1    Brancati, F.2    Antonini, A.3
  • 18
    • 0033775696 scopus 로고    scopus 로고
    • Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions[J]
    • Ruiz-Ponte C, Loidi L, Vega A, et al. Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions[J]. Clin Chem, 2000, 46(10): 1574-1582.
    • (2000) Clin Chem , vol.46 , Issue.10 , pp. 1574-1582
    • Ruiz-Ponte, C.1    Loidi, L.2    Vega, A.3
  • 21
    • 33744760852 scopus 로고    scopus 로고
    • Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease [J]
    • Tang B, Xiong H, Sun P, et al. Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease [J]. Hum Mol Genet, 2006, 15(11): 1816- 1825.
    • (2006) Hum Mol Genet , vol.15 , Issue.11 , pp. 1816-1825
    • Tang, B.1    Xiong, H.2    Sun, P.3
  • 22
    • 65649118917 scopus 로고    scopus 로고
    • Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation [J]
    • Xiong H, Wang D, Chen L, Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation [J]. J Clin Invest, 2009,119 (3): 650-660.
    • (2009) J Clin Invest , vol.119 , Issue.3 , pp. 650-660
    • Xiong, H.1    Wang, D.2    Chen, L.3
  • 24
    • 27944444154 scopus 로고    scopus 로고
    • Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism [J]
    • Silvestri L, Caputo V, Bellacchio E, et al. Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism [J]. Hum Mol Genet 14(22): 3477-3492.
    • Hum Mol Genet , vol.14 , Issue.22 , pp. 3477-3492
    • Silvestri, L.1    Caputo, V.2    Bellacchio, E.3
  • 25
    • 36148950600 scopus 로고    scopus 로고
    • PINK1 mutation in Taiwanese early-onset parkinsonism: Clinical, genetic, and dopamine transporter studies [J]
    • Weng Y H, Chou Y H, Wu W S, et al. PINK1 mutation in Taiwanese early-onset parkinsonism : clinical, genetic, and dopamine transporter studies [J]. J Neurol, 2007, 254(10): 1347-1355.
    • (2007) J Neurol , vol.254 , Issue.10 , pp. 1347-1355
    • Weng, Y.H.1    Chou, Y.H.2    Wu, W.S.3
  • 31
    • 57049185760 scopus 로고    scopus 로고
    • Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism [J]
    • Guo J F, Xiao B, Liao B, et al. Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism [J]. Mov Disord, 2008, 23(14): 2074-2079.
    • (2008) Mov Disord , vol.23 , Issue.14 , pp. 2074-2079
    • Guo, J.F.1    Xiao, B.2    Liao, B.3
  • 32
    • 0036113829 scopus 로고    scopus 로고
    • A single nucleotide polymorphism at the splice donor site of the human MYH base excision repair gene results in reduced translation efficiency of its transcripts
    • DOI 10.1046/j.1365-2443.2002.00532.x
    • 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 transcripts [J]. Genes Cells,2002, 7(5): 461-474. (Pubitemid 34537771)
    • (2002) Genes to Cells , vol.7 , Issue.5 , pp. 461-474
    • Yamaguchi, S.1    Shinmura, K.2    Saitoh, T.3    Takenoshita, S.4    Kuwano, H.5    Yokota, J.6
  • 33
    • 69949160790 scopus 로고    scopus 로고
    • PINK1 mutations in a Brazilian cohort of early-onset Parkinson's disease patients[J]
    • Godeiro-Junior C, de Carvalho-Aguiar P M, Felício A C, et al. PINK1 mutations in a Brazilian cohort of early-onset Parkinson's disease patients[J]. Mov Disord, 2009, 24(11): 1693-1696.
    • (2009) Mov Disord , vol.24 , Issue.11 , pp. 1693-1696
    • Godeiro-Junior, C.1    De Carvalho-Aguiar, P.M.2    Felício, A.C.3
  • 35
    • 67649637695 scopus 로고    scopus 로고
    • Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population [J]
    • Nuytemans K, Meeus B, Crosiers D, et al. Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population [J]. Hum Mutat, 2009, 30(7): 1054-1061.
    • (2009) Hum Mutat , vol.30 , Issue.7 , pp. 1054-1061
    • Nuytemans, K.1    Meeus, B.2    Crosiers, D.3
  • 37
    • 79951474478 scopus 로고    scopus 로고
    • Common variants in PARK loci and related genes and Parkinson's disease [J]
    • Chung S J.Armasu S M, Biernacka J M, et al. Common variants in PARK loci and related genes and Parkinson's disease [J]. Mov Disord, 2011, 26(2): 280-208.
    • (2011) Mov Disord , vol.26 , Issue.2 , pp. 280-1208
    • Chung, S.J.1    Armasu, S.M.2    Biernacka, J.M.3
  • 38
    • 67449147388 scopus 로고    scopus 로고
    • Parkin and PINK1 mutations in early-onset Parkinson's disease: Comprehensive screening in publicly available cases and control [J]
    • Brooks J, Ding J, Simon-Sanchez J, et al. Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control [J]. J Med Genet, 2009, 46(6): 375-381.
    • (2009) J Med Genet , vol.46 , Issue.6 , pp. 375-381
    • Brooks, J.1    Ding, J.2    Simon-Sanchez, J.3
  • 39
    • 34250815082 scopus 로고    scopus 로고
    • PINK1 IVS55 G > A polymorphism may contribute to therisk of late onset Parkinson disease in Chinese [J]
    • WANG Feng, CHEN Biao, FENG Xiuli, et al. PINK1 IVS55 G > A polymorphism may contribute to therisk of late onset Parkinson disease in Chinese [J]. Chinese Journal of Medical Genetics, 2007, 24 (3): 306-309.
    • (2007) Chinese Journal of Medical Genetics , vol.24 , Issue.3 , pp. 306-309
    • Wang, F.1    Chen, B.2    Feng, X.3
  • 40
    • 33751244266 scopus 로고    scopus 로고
    • A common A340T variant in PINK1 gene associated with late-onset Parkinson's disease in Chinese
    • DOI 10.1016/j.neulet.2006.09.080, PII S0304394006009232
    • Wang F, Feng X, Ma J, et al. A common A340T variant in PINK1 gene associated with late-onset Parkinson's disease in Chinese [J]. Neurosci Lett, 2006, 410: 121-125. (Pubitemid 44780930)
    • (2006) Neuroscience Letters , vol.410 , Issue.2 , pp. 121-125
    • Wang, F.1    Feng, X.2    Ma, J.3    Zou, H.4    Chan, P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.