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Volumn 292, Issue 12, 2009, Pages 1893-1901

From genes to proteins in Mendelian Parkinson's disease: An overview

Author keywords

ATP13A2; DJ1; Familial Parkinson's disease; Genetics; LRRK2; Parkin; PINK1; SNCA

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATASE TYPE 13A2; ALPHA SYNUCLEIN; DJ 1 PROTEIN; LEUCINE RICH REPEAT KINASE 2; LEVODOPA; PARKIN; UBIQUITIN C; UBIQUITIN C TERMINAL HYDROLASE L1; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG;

EID: 73849135183     PISSN: 19328486     EISSN: 19328494     Source Type: Journal    
DOI: 10.1002/ar.20968     Document Type: Conference Paper
Times cited : (15)

References (110)
  • 2
    • 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. 2004. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 351:1972-1977.
    • (2004) N Engl J Med , vol.351 , pp. 1972-1977
    • Aharon-Peretz, J.1    Rosenbaum, H.2    Gershoni-Baruch, R.3
  • 3
    • 0028298816 scopus 로고
    • Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome
    • Al Din N, Wriekat A, Mubaidin A, Dasouki M, Hiari M. 1994. Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. Acta Neurol Scand 89:347-352.
    • (1994) Acta Neurol Scand , vol.89 , pp. 347-352
    • Al Din, N.1    Wriekat, A.2    Mubaidin, A.3    Dasouki, M.4    Hiari, M.5
  • 7
    • 22044432781 scopus 로고    scopus 로고
    • Bonifati V, Rohe CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C, Tavella A, Marconi R, Nicholl DJ, Chien HF, Fincati E, Abbruzzese G, Marini P, De Gaetano A, Horstink MW, Maat-Kievit JA, Sampaio C, Antonini A, Stocchi F, Montagna P, Toni V, Guidi M, Dalla Libera A, Tinazzi M, De Pandis F, Fabbrini G, Goldwurm S, de Klein A, Barbosa E, Lopiano L, Martignoni E, Lamberti P, Vanacore N, Meco G, Oostra BA. 2005. Early-onset Parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology 65:87-95.
    • Bonifati V, Rohe CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C, Tavella A, Marconi R, Nicholl DJ, Chien HF, Fincati E, Abbruzzese G, Marini P, De Gaetano A, Horstink MW, Maat-Kievit JA, Sampaio C, Antonini A, Stocchi F, Montagna P, Toni V, Guidi M, Dalla Libera A, Tinazzi M, De Pandis F, Fabbrini G, Goldwurm S, de Klein A, Barbosa E, Lopiano L, Martignoni E, Lamberti P, Vanacore N, Meco G, Oostra BA. 2005. Early-onset Parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology 65:87-95.
  • 9
    • 28544441389 scopus 로고    scopus 로고
    • Genetics of Parkinson's disease: LRRK2 on the rise
    • Brice A. 2005. Genetics of Parkinson's disease: LRRK2 on the rise. Brain 128:2760-2762.
    • (2005) Brain , vol.128 , pp. 2760-2762
    • Brice, A.1
  • 10
    • 17844406856 scopus 로고    scopus 로고
    • Alpha-synuclein phosphorylation controls neurotoxicity and inclusion formation in a drosophila model of Parkinson disease
    • Chen L, Feany MB. 2005. Alpha-synuclein phosphorylation controls neurotoxicity and inclusion formation in a drosophila model of Parkinson disease. Nat Neurosci 8:657-663.
    • (2005) Nat Neurosci , vol.8 , pp. 657-663
    • Chen, L.1    Feany, M.B.2
  • 13
    • 0035834360 scopus 로고    scopus 로고
    • Kinetic stabilization of the α-synuclein protofibril by a dopamine-α- synuclein adduct
    • Conway KA, Rochet JC, Bieganski RM, Lansbury PT Jr. 2001. Kinetic stabilization of the α-synuclein protofibril by a dopamine-α- synuclein adduct. Science 294:1346-1349.
    • (2001) Science , vol.294 , pp. 1346-1349
    • Conway, K.A.1    Rochet, J.C.2    Bieganski, R.M.3    Lansbury Jr., P.T.4
  • 15
    • 4344659685 scopus 로고    scopus 로고
    • Impaired degradation of mutant α-synuclein by chaperonemediated autophagy
    • Cuervo AM, Stefanis L, Fredenburg R, Lansbury PT, Sulzer D. 2004. Impaired degradation of mutant α-synuclein by chaperonemediated autophagy. Science 305:1292-1295.
    • (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
    • 33645139675 scopus 로고    scopus 로고
    • Di Fonzo A, Tassorelli C, De Mari M, Chien HF, Ferreira J, Rohe CF, Riboldazzi G, Antonini A, Albani G, Mauro A, Marconi R, Abbruzzese G, Lopiano L, Fincati E, Guidi M, Marini P, Stocchi F, Onofrj M, Toni V, Tinazzi M, Fabbrini G, Lamberti P, Vanacore N, Meco G, Leitner P, Uitti RJ, Wszolek ZK, Gasser T, Simons EJ, Breedveld GJ, Goldwurm S, Pezzoli G, Sampaio C, Barbosa E, Martignoni E, Oostra BA, Bonifati V. 2006. Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. Eur J Hum Genet 14:322-331.
    • Di Fonzo A, Tassorelli C, De Mari M, Chien HF, Ferreira J, Rohe CF, Riboldazzi G, Antonini A, Albani G, Mauro A, Marconi R, Abbruzzese G, Lopiano L, Fincati E, Guidi M, Marini P, Stocchi F, Onofrj M, Toni V, Tinazzi M, Fabbrini G, Lamberti P, Vanacore N, Meco G, Leitner P, Uitti RJ, Wszolek ZK, Gasser T, Simons EJ, Breedveld GJ, Goldwurm S, Pezzoli G, Sampaio C, Barbosa E, Martignoni E, Oostra BA, Bonifati V. 2006. Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. Eur J Hum Genet 14:322-331.
  • 19
    • 0038727936 scopus 로고    scopus 로고
    • Description of Parkinson's disease as a clinical syndrome
    • Fahn S. 2003. Description of Parkinson's disease as a clinical syndrome. Ann NY Acad Sci 991:1-14.
    • (2003) Ann NY Acad Sci , vol.991 , pp. 1-14
    • Fahn, S.1
  • 21
    • 33645116252 scopus 로고    scopus 로고
    • Genetics of Parkinson's disease: Paradigm shifts and future prospects
    • Farrer MJ. 2006. Genetics of Parkinson's disease: paradigm shifts and future prospects. Nat Rev Genet 7:306-318.
    • (2006) Nat Rev Genet , vol.7 , pp. 306-318
    • Farrer, M.J.1
  • 26
    • 0033771793 scopus 로고    scopus 로고
    • Is there a cause-and-effect relationship between α-synuclein fibrillization and Parkinson's disease?
    • Goldberg MS and Lansbury PT, Jr. 2000. Is there a cause-and-effect relationship between α-synuclein fibrillization and Parkinson's disease? Nat Cell Biol 2:E115-E119.
    • (2000) Nat Cell Biol , vol.2
    • Goldberg, M.S.1    Lansbury Jr., P.T.2
  • 27
    • 15544380902 scopus 로고    scopus 로고
    • Genetic and genomic studies of drosophila Parkin mutants implicate oxidative stress and innate immune responses in pathogenesis
    • Greene JC, Whitworth AJ, Andrews LA, Parker TJ, Parker TJ, Pallanck LJ. 2005. Genetic and genomic studies of drosophila Parkin mutants implicate oxidative stress and innate immune responses in pathogenesis. Hum Mol Genet 14:799-811.
    • (2005) Hum Mol Genet , vol.14 , pp. 799-811
    • Greene, J.C.1    Whitworth, A.J.2    Andrews, L.A.3    Parker, T.J.4    Parker, T.J.5    Pallanck, L.J.6
  • 28
    • 33745280651 scopus 로고    scopus 로고
    • Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity
    • Hampe C, Ardila-Osorio H, Fournier M, Brice A, Corti O. 2006. Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity. Hum Mol Genet 15:2059-2075.
    • (2006) Hum Mol Genet , vol.15 , pp. 2059-2075
    • Hampe, C.1    Ardila-Osorio, H.2    Fournier, M.3    Brice, A.4    Corti, O.5
  • 42
    • 34447307390 scopus 로고    scopus 로고
    • Impact of recent genetic findings in Parkinson's disease
    • Klein C and Lohmann-Hedrich K. 2007. Impact of recent genetic findings in Parkinson's disease. Curr Opin Neurol 20:453-464.
    • (2007) Curr Opin Neurol , vol.20 , pp. 453-464
    • Klein, C.1    Lohmann-Hedrich, K.2
  • 44
    • 0030919860 scopus 로고    scopus 로고
    • Discriminant analysis indicates a single sperm protein (SP22) is predictive of fertility following exposure to epididymal toxicants
    • Klinefelter GR, Laskey JW, Ferrell J, Suarez JD, Roberts NL. 1997. Discriminant analysis indicates a single sperm protein (SP22) is predictive of fertility following exposure to epididymal toxicants. J Androl 18:139-150.
    • (1997) J Androl , vol.18 , pp. 139-150
    • Klinefelter, G.R.1    Laskey, J.W.2    Ferrell, J.3    Suarez, J.D.4    Roberts, N.L.5
  • 48
    • 0036415838 scopus 로고    scopus 로고
    • Alpha-synuclein, especially the Parkinson's disease-associated mutants, forms pore-like annular and tubular protofibrils
    • Lashuel HA, Petre BM, Wall J, Simon M, Nowak RJ, Walz T, Lansbury PT, Jr. 2002. Alpha-synuclein, especially the Parkinson's disease-associated mutants, forms pore-like annular and tubular protofibrils. J Mol Biol 322:1089-1102.
    • (2002) J Mol Biol , vol.322 , pp. 1089-1102
    • Lashuel, H.A.1    Petre, B.M.2    Wall, J.3    Simon, M.4    Nowak, R.J.5    Walz, T.6    Lansbury Jr., P.T.7
  • 50
    • 1442275729 scopus 로고    scopus 로고
    • Clearance of α-synuclein oligomeric intermediates via the lysosomal degradation pathway
    • Lee HJ, Khoshaghideh F, Patel S, Lee SJ. 2004. Clearance of α-synuclein oligomeric intermediates via the lysosomal degradation pathway. J Neurosci 24:1888-1896.
    • (2004) J Neurosci , vol.24 , pp. 1888-1896
    • Lee, H.J.1    Khoshaghideh, F.2    Patel, S.3    Lee, S.J.4
  • 51
    • 63149090431 scopus 로고    scopus 로고
    • Parkinson's disease: From monogenic forms to genetic susceptibility factors
    • Lesage S and Brice A. 2009. Parkinson's disease: from monogenic forms to genetic susceptibility factors. Hum Mol Genet 18:R48-R59.
    • (2009) Hum Mol Genet , vol.18
    • Lesage, S.1    Brice, A.2
  • 54
    • 22544465257 scopus 로고    scopus 로고
    • LRRK2 haplotype analyses in European and North African families with Parkinson disease: A common founder for the G2019S mutation dating from the 13th century
    • Lesage S, Leutenegger AL, Ibanez P, Janin S, Lohmann E, Durr A, Brice A. 2005. LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century. Am J Hum Genet 77:330-332.
    • (2005) Am J Hum Genet , vol.77 , pp. 330-332
    • Lesage, S.1    Leutenegger, A.L.2    Ibanez, P.3    Janin, S.4    Lohmann, E.5    Durr, A.6    Brice, A.7
  • 58
    • 10644281090 scopus 로고    scopus 로고
    • Lentiviral vector delivery of Parkin prevents dopaminergic degeneration in an α-synuclein rat model of Parkinson's disease
    • Lo Bianco C, Schneider BL, Bauer M, Sajadi A, Brice A, Iwatsubo T, Aebischer P. 2004. Lentiviral vector delivery of Parkin prevents dopaminergic degeneration in an α-synuclein rat model of Parkinson's disease. Proc Natl Acad Sci USA 101:17510-17515.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 17510-17515
    • Lo Bianco, C.1    Schneider, B.L.2    Bauer, M.3    Sajadi, A.4    Brice, A.5    Iwatsubo, T.6    Aebischer, P.7
  • 64
    • 33344461775 scopus 로고    scopus 로고
    • Protein aggregation in the pathogenesis of familial and sporadic Parkinson's disease
    • Mc Naught K St P and Olanow CW. 2006. Protein aggregation in the pathogenesis of familial and sporadic Parkinson's disease. Neuro Biol Aging 27:530-545.
    • (2006) Neuro Biol Aging , vol.27 , pp. 530-545
    • Mc Naught, K.S.P.1    Olanow, C.W.2
  • 67
    • 0035692636 scopus 로고    scopus 로고
    • DJ1 is an indicator for endogenous reactive active species elicited by endotoxin
    • Mitsumoto A, Nakagawa Y. 2001. DJ1 is an indicator for endogenous reactive active species elicited by endotoxin. Free Radic Res 35:885-893.
    • (2001) Free Radic Res , vol.35 , pp. 885-893
    • Mitsumoto, A.1    Nakagawa, Y.2
  • 68
    • 0346434141 scopus 로고    scopus 로고
    • A missense mutation (L166P) in DJ1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo-oligomerization
    • Moore DJ, Zhang L, Dawson TM, Dawson VL. 2003. A missense mutation (L166P) in DJ1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo-oligomerization. J Neurochem 87:1558-1567.
    • (2003) J Neurochem , vol.87 , pp. 1558-1567
    • Moore, D.J.1    Zhang, L.2    Dawson, T.M.3    Dawson, V.L.4
  • 81
    • 34547127902 scopus 로고    scopus 로고
    • PINK1 protects against oxidative stress by phosphoylating mitochondrial chaperone TRAP1
    • Pridgeon JW, Olzmann JA, Chin LS, Li L. 2007. PINK1 protects against oxidative stress by phosphoylating mitochondrial chaperone TRAP1. PloS Biol 5:1494-1503.
    • (2007) PloS Biol , vol.5 , pp. 1494-1503
    • Pridgeon, J.W.1    Olzmann, J.A.2    Chin, L.S.3    Li, L.4
  • 85
    • 13944267769 scopus 로고    scopus 로고
    • DJ1 is a redox-dependent molecular chaperone that inhibits α-synuclein aggregate formation
    • Shendelman S, Jonason A, Martinat C, Leete T, Abeliovich A. 2004. DJ1 is a redox-dependent molecular chaperone that inhibits α-synuclein aggregate formation. PloS Biol 2:e362.
    • (2004) PloS Biol , vol.2
    • Shendelman, S.1    Jonason, A.2    Martinat, C.3    Leete, T.4    Abeliovich, A.5
  • 93
    • 33748602367 scopus 로고    scopus 로고
    • Genetic testing in Parkinson disease: Promises and pitfalls
    • Tan EK and Jankovic J. 2006. Genetic testing in Parkinson disease: promises and pitfalls. Arch Neurol 63:1232-1237.
    • (2006) Arch Neurol , vol.63 , pp. 1232-1237
    • Tan, E.K.1    Jankovic, J.2
  • 100
    • 0032552851 scopus 로고    scopus 로고
    • Molecular cloning and expression of rat contraception associated protein 1 (CAP1), a protein putatively involved in fertilization
    • Wagenfeld A, Gromoll J, Cooper TG. 1998. Molecular cloning and expression of rat contraception associated protein 1 (CAP1), a protein putatively involved in fertilization. Biochem Biophys Res Commun 251:545-549.
    • (1998) Biochem Biophys Res Commun , vol.251 , pp. 545-549
    • Wagenfeld, A.1    Gromoll, J.2    Cooper, T.G.3
  • 103
    • 33746080412 scopus 로고    scopus 로고
    • Mitochondrial pathology and muscle and dopaminergic neuron degeneration caused by inactivation of drosophila PINK1 is rescued by Parkin
    • Yang Y, Gehrke S, Imai Y, Huang Z, Ouyang Y, Wang JW, Yang L, Beal MF, Vogel H, Lu B. 2006. Mitochondrial pathology and muscle and dopaminergic neuron degeneration caused by inactivation of drosophila PINK1 is rescued by Parkin. Proc Natl Acad Sci USA 103:10793-10798.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 10793-10798
    • Yang, Y.1    Gehrke, S.2    Imai, Y.3    Huang, Z.4    Ouyang, Y.5    Wang, J.W.6    Yang, L.7    Beal, M.F.8    Vogel, H.9    Lu, B.10
  • 104
    • 0345357664 scopus 로고    scopus 로고
    • Down-regulation of DJ1 enhances cell death by oxidative stress, ER stress, and proteasome inhibition
    • Yokota T, Sugawara K, Ito K, Takahashi R, Ariga H, Mizusawa H. 2003. Down-regulation of DJ1 enhances cell death by oxidative stress, ER stress, and proteasome inhibition. Biochem Biophys Res Commun 312:1342-1348.
    • (2003) Biochem Biophys Res Commun , vol.312 , pp. 1342-1348
    • Yokota, T.1    Sugawara, K.2    Ito, K.3    Takahashi, R.4    Ariga, H.5    Mizusawa, H.6


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