메뉴 건너뛰기




Volumn 7, Issue 12, 2012, Pages

Association of Mitochondrial DNA Polymerase γ Gene POLG1 Polymorphisms with Parkinsonism in Chinese Populations

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; MESSENGER RNA;

EID: 84870906552     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0050086     Document Type: Article
Times cited : (18)

References (31)
  • 2
    • 44949138796 scopus 로고    scopus 로고
    • A review of Parkinson's disease
    • Davie CA, (2008) A review of Parkinson's disease. Br Med Bull 86: 109-127.
    • (2008) Br Med Bull , vol.86 , pp. 109-127
    • Davie, C.A.1
  • 3
    • 76849099633 scopus 로고    scopus 로고
    • Parkinson's disease: Exit toxins, enter genetics
    • Westerlund M, Hoffer B, Olson L, (2010) Parkinson's disease: Exit toxins, enter genetics. Prog Neurobiol 90: 146-156.
    • (2010) Prog Neurobiol , vol.90 , pp. 146-156
    • Westerlund, M.1    Hoffer, B.2    Olson, L.3
  • 4
    • 67651064960 scopus 로고    scopus 로고
    • [Genetics and present therapy options in Parkinson's disease: a review]
    • Bereznai B, Molnar MJ, (2009) [Genetics and present therapy options in Parkinson's disease: a review]. Ideggyogy Sz 62: 155-163.
    • (2009) Ideggyogy Sz , vol.62 , pp. 155-163
    • Bereznai, B.1    Molnar, M.J.2
  • 5
    • 4444276204 scopus 로고    scopus 로고
    • POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions
    • Di Fonzo A, Bordoni A, Crimi M, Sara G, Del Bo R, et al. (2003) POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. Hum Mutat 22: 498-499.
    • (2003) Hum Mutat , vol.22 , pp. 498-499
    • Di Fonzo, A.1    Bordoni, A.2    Crimi, M.3    Sara, G.4    Del Bo, R.5
  • 7
    • 34948862122 scopus 로고    scopus 로고
    • Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease
    • Luoma PT, Eerola J, Ahola S, Hakonen AH, Hellstrom O, et al. (2007) Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease. Neurology 69: 1152-1159.
    • (2007) Neurology , vol.69 , pp. 1152-1159
    • Luoma, P.T.1    Eerola, J.2    Ahola, S.3    Hakonen, A.H.4    Hellstrom, O.5
  • 8
    • 34247122280 scopus 로고    scopus 로고
    • Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism
    • Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, et al. (2007) Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. Arch Neurol 64: 553-557.
    • (2007) Arch Neurol , vol.64 , pp. 553-557
    • Hudson, G.1    Schaefer, A.M.2    Taylor, R.W.3    Tiangyou, W.4    Gibson, A.5
  • 10
    • 0034637514 scopus 로고    scopus 로고
    • In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells
    • Spelbrink JN, Toivonen JM, Hakkaart GA, Kurkela JM, Cooper HM, et al. (2000) In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells. J Biol Chem 275: 24818-24828.
    • (2000) J Biol Chem , vol.275 , pp. 24818-24828
    • Spelbrink, J.N.1    Toivonen, J.M.2    Hakkaart, G.A.3    Kurkela, J.M.4    Cooper, H.M.5
  • 11
    • 33644635644 scopus 로고    scopus 로고
    • DNA polymerase gamma in mitochondrial DNA replication and repair
    • Graziewicz MA, Longley MJ, Copeland WC, (2006) DNA polymerase gamma in mitochondrial DNA replication and repair. Chem Rev 106: 383-405.
    • (2006) Chem Rev , vol.106 , pp. 383-405
    • Graziewicz, M.A.1    Longley, M.J.2    Copeland, W.C.3
  • 12
    • 2642580016 scopus 로고    scopus 로고
    • Premature ageing in mice expressing defective mitochondrial DNA polymerase
    • Trifunovic A, Wredenberg A, Falkenberg M, Spelbrink JN, Rovio AT, et al. (2004) Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429: 417-423.
    • (2004) Nature , vol.429 , pp. 417-423
    • Trifunovic, A.1    Wredenberg, A.2    Falkenberg, M.3    Spelbrink, J.N.4    Rovio, A.T.5
  • 15
    • 77957351763 scopus 로고    scopus 로고
    • Variations of the CAG trinucleotide repeat in DNA polymerase gamma (POLG1) is associated with Parkinson's disease in Sweden
    • Anvret A, Westerlund M, Sydow O, Willows T, Lind C, et al. (2010) Variations of the CAG trinucleotide repeat in DNA polymerase gamma (POLG1) is associated with Parkinson's disease in Sweden. Neurosci Lett 485: 117-120.
    • (2010) Neurosci Lett , vol.485 , pp. 117-120
    • Anvret, A.1    Westerlund, M.2    Sydow, O.3    Willows, T.4    Lind, C.5
  • 16
    • 0031740582 scopus 로고    scopus 로고
    • Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee
    • Deuschl G, Bain P, Brin M, (1998) Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee. Mov Disord 13 Suppl 3: 2-23.
    • (1998) Mov Disord , vol.13 , Issue.SUPPL. 3 , pp. 2-23
    • Deuschl, G.1    Bain, P.2    Brin, M.3
  • 17
    • 2642539211 scopus 로고    scopus 로고
    • Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach
    • Bai RK, Wong LJ, (2004) Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach. Clin Chem 50: 996-1001.
    • (2004) Clin Chem , vol.50 , pp. 996-1001
    • Bai, R.K.1    Wong, L.J.2
  • 18
    • 23044493044 scopus 로고    scopus 로고
    • Heat shock protein-70 expressed on the surface of cancer cells binds parathyroid hormone-related protein in vitro
    • Grzesiak JJ, Smith KC, Chalberg C, Truong C, Burton DW, et al. (2005) Heat shock protein-70 expressed on the surface of cancer cells binds parathyroid hormone-related protein in vitro. Endocrinology 146: 3567-3576.
    • (2005) Endocrinology , vol.146 , pp. 3567-3576
    • Grzesiak, J.J.1    Smith, K.C.2    Chalberg, C.3    Truong, C.4    Burton, D.W.5
  • 19
    • 0030728419 scopus 로고    scopus 로고
    • Molecular analysis of the androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: an unusual type of intronic mutation
    • Bruggenwirth HT, Boehmer AL, Ramnarain S, Verleun-Mooijman MC, Satijn DP, et al. (1997) Molecular analysis of the androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: an unusual type of intronic mutation. Am J Hum Genet 61: 1067-1077.
    • (1997) Am J Hum Genet , vol.61 , pp. 1067-1077
    • Bruggenwirth, H.T.1    Boehmer, A.L.2    Ramnarain, S.3    Verleun-Mooijman, M.C.4    Satijn, D.P.5
  • 20
    • 0031723896 scopus 로고    scopus 로고
    • Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3′-splice site selection and cause Sandhoff disease
    • Fujimaru M, Tanaka A, Choeh K, Wakamatsu N, Sakuraba H, et al. (1998) Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3′-splice site selection and cause Sandhoff disease. Hum Genet 103: 462-469.
    • (1998) Hum Genet , vol.103 , pp. 462-469
    • Fujimaru, M.1    Tanaka, A.2    Choeh, K.3    Wakamatsu, N.4    Sakuraba, H.5
  • 21
    • 0141957280 scopus 로고    scopus 로고
    • A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family
    • Yu C, Meng X, Zhang S, Zhao G, Hu L, et al. (2003) A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family. Genomics 82: 575-579.
    • (2003) Genomics , vol.82 , pp. 575-579
    • Yu, C.1    Meng, X.2    Zhang, S.3    Zhao, G.4    Hu, L.5
  • 22
    • 84861925259 scopus 로고    scopus 로고
    • Design principles of interconnections between chromatin and pre-mRNA splicing
    • de Almeida SF, Carmo-Fonseca M, (2012) Design principles of interconnections between chromatin and pre-mRNA splicing. Trends Biochem Sci 37: 248-253.
    • (2012) Trends Biochem Sci , vol.37 , pp. 248-253
    • de Almeida, S.F.1    Carmo-Fonseca, M.2
  • 23
    • 84860725581 scopus 로고    scopus 로고
    • Functional coupling of transcription and splicing
    • Montes M, Becerra S, Sanchez-Alvarez M, Sune C, (2012) Functional coupling of transcription and splicing. Gene 501: 104-117.
    • (2012) Gene , vol.501 , pp. 104-117
    • Montes, M.1    Becerra, S.2    Sanchez-Alvarez, M.3    Sune, C.4
  • 24
    • 70549088602 scopus 로고    scopus 로고
    • Genome-wide association study reveals genetic risk underlying Parkinson's disease
    • Simon-Sanchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, et al. (2009) Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet 41: 1308-1312.
    • (2009) Nat Genet , vol.41 , pp. 1308-1312
    • Simon-Sanchez, J.1    Schulte, C.2    Bras, J.M.3    Sharma, M.4    Gibbs, J.R.5
  • 25
    • 58149100151 scopus 로고    scopus 로고
    • Genomewide association study for susceptibility genes contributing to familial Parkinson disease
    • Pankratz N, Wilk JB, Latourelle JC, DeStefano AL, Halter C, et al. (2009) Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet 124: 593-605.
    • (2009) Hum Genet , vol.124 , pp. 593-605
    • Pankratz, N.1    Wilk, J.B.2    Latourelle, J.C.3    DeStefano, A.L.4    Halter, C.5
  • 26
    • 67651148267 scopus 로고    scopus 로고
    • No association between common POLG1 variants and sporadic idiopathic Parkinson's disease
    • Hudson G, Tiangyou W, Stutt A, Eccles M, Robinson L, et al. (2009) No association between common POLG1 variants and sporadic idiopathic Parkinson's disease. Mov Disord 24: 1092-1094.
    • (2009) Mov Disord , vol.24 , pp. 1092-1094
    • Hudson, G.1    Tiangyou, W.2    Stutt, A.3    Eccles, M.4    Robinson, L.5
  • 27
    • 79951510133 scopus 로고    scopus 로고
    • Intronic polymorphisms affecting alternative splicing of human dopamine D2 receptor are associated with cocaine abuse
    • Moyer RA, Wang D, Papp AC, Smith RM, Duque L, et al. (2011) Intronic polymorphisms affecting alternative splicing of human dopamine D2 receptor are associated with cocaine abuse. Neuropsychopharmacology 36: 753-762.
    • (2011) Neuropsychopharmacology , vol.36 , pp. 753-762
    • Moyer, R.A.1    Wang, D.2    Papp, A.C.3    Smith, R.M.4    Duque, L.5
  • 28
    • 79960633918 scopus 로고    scopus 로고
    • Intronic polymorphism in CYP3A4 affects hepatic expression and response to statin drugs
    • Wang D, Guo Y, Wrighton SA, Cooke GE, Sadee W, (2011) Intronic polymorphism in CYP3A4 affects hepatic expression and response to statin drugs. Pharmacogenomics J 11: 274-286.
    • (2011) Pharmacogenomics J , vol.11 , pp. 274-286
    • Wang, D.1    Guo, Y.2    Wrighton, S.A.3    Cooke, G.E.4    Sadee, W.5
  • 30
    • 37849032986 scopus 로고    scopus 로고
    • Functional coupling of last-intron splicing and 3′-end processing to transcription in vitro: the poly(A) signal couples to splicing before committing to cleavage
    • Rigo F, Martinson HG, (2008) Functional coupling of last-intron splicing and 3′-end processing to transcription in vitro: the poly(A) signal couples to splicing before committing to cleavage. Mol Cell Biol 28: 849-862.
    • (2008) Mol Cell Biol , vol.28 , pp. 849-862
    • Rigo, F.1    Martinson, H.G.2
  • 31
    • 42949109848 scopus 로고    scopus 로고
    • The splicing factor SF2/ASF regulates translation initiation by enhancing phosphorylation of 4E-BP1
    • Michlewski G, Sanford JR, Caceres JF, (2008) The splicing factor SF2/ASF regulates translation initiation by enhancing phosphorylation of 4E-BP1. Mol Cell 30: 179-189.
    • (2008) Mol Cell , vol.30 , pp. 179-189
    • Michlewski, G.1    Sanford, J.R.2    Caceres, J.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.