메뉴 건너뛰기




Volumn 261, Issue 2, 2014, Pages 259-266

Recent advances in Parkinson's disease genetics

Author keywords

GBA; Genetics; Genome wide association study; LRRK2; Parkin; Parkinson's disease

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; GBA GENE; GENE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC RISK; GENETIC VARIABILITY; HUMAN; IMMUNE SYSTEM; LRRK2 GENE; LYSOSOME; MITOPHAGY; PARKINSON DISEASE; PATHOGENESIS; PRIORITY JOURNAL; REVIEW;

EID: 84898864538     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-013-7003-2     Document Type: Review
Times cited : (65)

References (105)
  • 1
    • 66949152096 scopus 로고    scopus 로고
    • Parkinson's disease
    • Lees AJ, Hardy J, Revesz T (2009) Parkinson's disease. Lancet 373(9680):2055-2066
    • (2009) Lancet , vol.373 , Issue.9680 , pp. 2055-2066
    • Lees, A.J.1    Hardy, J.2    Revesz, T.3
  • 4
    • 0031990490 scopus 로고    scopus 로고
    • Ala30Pro mutation in the gene encoding alphasynuclein in Parkinson's disease
    • Krüger R, Kuhn W, Müller T, Woitalla D, Graeber M, Kösel S et al (1998) Ala30Pro mutation in the gene encoding alphasynuclein in Parkinson's disease. Nat Genet 18(2):106-108
    • (1998) Nat Genet , vol.18 , Issue.2 , pp. 106-108
    • Krüger, R.1    Kuhn, W.2    Müller, T.3    Woitalla, D.4    Graeber, M.5    Kösel, S.6
  • 7
    • 0034681163 scopus 로고    scopus 로고
    • Acceleration of oligomerization, not fibrillization, is a shared property of both alpha -synuclein mutations linked to early-onset Parkinson's disease: Implications for pathogenesis and therapy
    • Conway KA (2000) Acceleration of oligomerization, not fibrillization, is a shared property of both alpha -synuclein mutations linked to early-onset Parkinson's disease: implications for pathogenesis and therapy. Proc Natl Acad Sci 97(2):571-576
    • (2000) Proc Natl Acad Sci , vol.97 , Issue.2 , pp. 571-576
    • Conway, K.A.1
  • 12
  • 13
    • 50049104725 scopus 로고    scopus 로고
    • Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: A case-control study
    • Healy DG, Falchi M, O'Sullivan SS, Bonifati V, Durr A, Bressman S et al (2008) Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol 7(7):583-590
    • (2008) Lancet Neurol , vol.7 , Issue.7 , pp. 583-590
    • Healy, D.G.1    Falchi, M.2    O'Sullivan, S.S.3    Bonifati, V.4    Durr, A.5    Bressman, S.6
  • 14
    • 65449160605 scopus 로고    scopus 로고
    • The leucine rich repeat kinase 2 (LRRK2) G2019S substitution mutation. Association with Parkinson disease, malignant melanoma and prevalence in ethnic groups in Israel
    • Hassin-Baer S, Laitman Y, Azizi E, Molchadski I, Galore-Haskel G, Barak F et al (2009) The leucine rich repeat kinase 2 (LRRK2) G2019S substitution mutation. Association with Parkinson disease, malignant melanoma and prevalence in ethnic groups in Israel. J Neurol 256(3):483-487
    • (2009) J Neurol , vol.256 , Issue.3 , pp. 483-487
    • Hassin-Baer, S.1    Laitman, Y.2    Azizi, E.3    Molchadski, I.4    Galore-Haskel, G.5    Barak, F.6
  • 19
    • 57649188649 scopus 로고    scopus 로고
    • The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: The GenePD study
    • Latourelle JC, Sun M, Lew MF, Suchowersky O, Klein C, Golbe LI et al (2008) The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Med 6:32
    • (2008) BMC Med , vol.6 , pp. 32
    • Latourelle, J.C.1    Sun, M.2    Lew, M.F.3    Suchowersky, O.4    Klein, C.5    Golbe, L.I.6
  • 20
    • 78649389313 scopus 로고    scopus 로고
    • The role of leucine-rich repeat kinase 2 (LRRK2) in Parkinson's disease
    • doi:10.1038/nrn2935
    • Cookson MR (2010) The role of leucine-rich repeat kinase 2 (LRRK2) in Parkinson's disease. Nat Rev Neurosci 11(12):791-797. doi:10.1038/nrn2935
    • (2010) Nat Rev Neurosci , vol.11 , Issue.12 , pp. 791-797
    • Cookson, M.R.1
  • 21
    • 84856070973 scopus 로고    scopus 로고
    • LRRK2 and human disease: A complicated question or a question of complexes?
    • doi:10.1126/scisignal.2002680
    • Lewis PA, Manzoni C (2012) LRRK2 and human disease: a complicated question or a question of complexes? Sci Signal 5(207):pe2. doi:10.1126/ scisignal.2002680
    • (2012) Sci Signal , vol.5 , Issue.207
    • Lewis, P.A.1    Manzoni, C.2
  • 22
    • 60049098664 scopus 로고    scopus 로고
    • The function of ROCO proteins in health and disease
    • Lewis PA (2009) The function of ROCO proteins in health and disease. Biol Cell/Under Auspices Eur Cell Biol Organ 101(3):183-191
    • (2009) Biol Cell/Under Auspices Eur Cell Biol Organ , vol.101 , Issue.3 , pp. 183-191
    • Lewis, P.A.1
  • 23
    • 78650709936 scopus 로고    scopus 로고
    • Cancer and neurodegeneration: Between the devil and the deep blue sea
    • doi:10.1371/journal.pgen.1001257
    • Plun-Favreau H, Lewis PA, Hardy J, Martins LM, Wood NW (2010) Cancer and neurodegeneration: between the devil and the deep blue sea. PLoS Genet 6(12):e1001257. doi:10.1371/journal.pgen.1001257
    • (2010) PLoS Genet , vol.6 , Issue.12
    • Plun-Favreau, H.1    Lewis, P.A.2    Hardy, J.3    Martins, L.M.4    Wood, N.W.5
  • 24
    • 77955293560 scopus 로고    scopus 로고
    • Parkinson's disease and cancer risk: A systematic review and meta-analysis
    • Bajaj A, Driver JA, Schernhammer ES (2010) Parkinson's disease and cancer risk: a systematic review and meta-analysis. Cancer Causes Control: CCC 21(5):697-707
    • (2010) Cancer Causes Control: CCC , vol.21 , Issue.5 , pp. 697-707
    • Bajaj, A.1    Driver, J.A.2    Schernhammer, E.S.3
  • 25
    • 77953801296 scopus 로고    scopus 로고
    • Genetic determinants at the interface of cancer and neurodegenerative disease
    • Morris LGT, Veeriah S, Chan TA (2010) Genetic determinants at the interface of cancer and neurodegenerative disease. Oncogene 29(24):3453-3464
    • (2010) Oncogene , vol.29 , Issue.24 , pp. 3453-3464
    • Morris, L.G.T.1    Veeriah, S.2    Chan, T.A.3
  • 28
    • 84860767366 scopus 로고    scopus 로고
    • Identification of VPS35 mutations replicated in French families with Parkinson disease
    • French Parkinson's Disease Genetics Study Group doi:10.1212/WNL. 0b013e318253d5f2
    • Lesage S, Condroyer C, Klebe S, Honoré A, Tison F, Brefel-Courbon C, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group (2012) Identification of VPS35 mutations replicated in French families with Parkinson disease. Neurology 78(18):1449-1450. doi:10.1212/WNL.0b013e318253d5f2
    • (2012) Neurology , vol.78 , Issue.18 , pp. 1449-1450
    • Lesage, S.1    Condroyer, C.2    Klebe, S.3    Honoré, A.4    Tison, F.5    Brefel-Courbon, C.6    Dürr, A.7    Brice, A.8
  • 29
    • 84870287920 scopus 로고    scopus 로고
    • A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
    • Sharma M, Ioannidis JP a, Aasly JO, Annesi G, Brice A, Bertram L et al (2012) A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J Med Genet 49(11):721-726
    • (2012) J Med Genet , vol.49 , Issue.11 , pp. 721-726
    • Sharma, M.1    Ioannidis, J.P.2    Aasly, J.O.3    Annesi, G.4    Brice, A.5    Bertram, L.6
  • 34
    • 84876261148 scopus 로고    scopus 로고
    • Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease
    • Nuytemans K, Bademci G, Inchausti V, Dressen A, Kinnamon DD, Mehta A et al (2013) Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease. Neurology 80(11):982-989
    • (2013) Neurology , vol.80 , Issue.11 , pp. 982-989
    • Nuytemans, K.1    Bademci, G.2    Inchausti, V.3    Dressen, A.4    Kinnamon, D.D.5    Mehta, A.6
  • 35
    • 84863469671 scopus 로고    scopus 로고
    • EIF4G1 in familial Parkinson's disease: Pathogenic mutations or rare benign variants?
    • Lesage S, Condroyer C, Klebe S, Lohmann E, Durif F, Damier P et al (2012) EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? Neurobiol Aging 33(9):2233.e1-2233.e5
    • (2012) Neurobiol Aging , vol.33 , Issue.9
    • Lesage, S.1    Condroyer, C.2    Klebe, S.3    Lohmann, E.4    Durif, F.5    Damier, P.6
  • 38
    • 84867746758 scopus 로고    scopus 로고
    • Systematic Review and UK-Based Study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease
    • Kilarski LL, Pearson JP, Newsway V, Majounie E, Knipe MDW, Misbahuddin A et al (2012) Systematic Review and UK-Based Study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. Mov Disord 27(12):1522-1529
    • (2012) Mov Disord , vol.27 , Issue.12 , pp. 1522-1529
    • Kilarski, L.L.1    Pearson, J.P.2    Newsway, V.3    Majounie, E.4    Knipe, M.D.W.5    Misbahuddin, A.6
  • 39
    • 77954104112 scopus 로고    scopus 로고
    • Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: A mutation update
    • Nuytemans K, Theuns J, Cruts M, Van Broeckhoven C (2010) Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat 31(7):763-780
    • (2010) Hum Mutat , vol.31 , Issue.7 , pp. 763-780
    • Nuytemans, K.1    Theuns, J.2    Cruts, M.3    Van Broeckhoven, C.4
  • 42
    • 79959305691 scopus 로고    scopus 로고
    • Mitochondria: The next (neurode) generation
    • Schon E a, Przedborski S (2011) Mitochondria: the next (neurode) generation. Neuron 70(6):1033-1053
    • (2011) Neuron , vol.70 , Issue.6 , pp. 1033-1053
    • Schon, E.1    Przedborski, S.2
  • 44
    • 79952303794 scopus 로고    scopus 로고
    • PARIS (ZNF746) repression of PGC-1α contributes to neurodegeneration in Parkinson's disease
    • Shin J-H, Ko HS, Kang H, Lee Y, Lee Y-I, Pletinkova O et al (2011) PARIS (ZNF746) repression of PGC-1α contributes to neurodegeneration in Parkinson's disease. Cell 144(5):689-702
    • (2011) Cell , vol.144 , Issue.5 , pp. 689-702
    • Shin, J.-H.1    Ko, H.S.2    Kang, H.3    Lee, Y.4    Lee, Y.-I.5    Pletinkova, O.6
  • 45
    • 33745589773 scopus 로고    scopus 로고
    • Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin
    • DOI 10.1038/nature04779, PII N04779
    • Clark IE, Dodson MW, Jiang C, Cao JH, Huh JR, Seol JH et al (2006) Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin. Nature 441(7097):1162-1166 (Pubitemid 43990738)
    • (2006) Nature , vol.441 , Issue.7097 , pp. 1162-1166
    • Clark, I.E.1    Dodson, M.W.2    Jiang, C.3    Cao, J.H.4    Huh, J.R.5    Seol, J.H.6    Yoo, S.J.7    Hay, B.A.8    Guo, M.9
  • 47
    • 61649088435 scopus 로고    scopus 로고
    • PINK1-associated Parkinson's disease is caused by neuronal vulnerability to calcium-induced cell death
    • Gandhi S, Wood-Kaczmar A, Yao Z, Plun-Favreau H, Deas E, Klupsch K et al (2009) PINK1-associated Parkinson's disease is caused by neuronal vulnerability to calcium-induced cell death. Mol Cell 33(5):627-638
    • (2009) Mol Cell , vol.33 , Issue.5 , pp. 627-638
    • Gandhi, S.1    Wood-Kaczmar, A.2    Yao, Z.3    Plun-Favreau, H.4    Deas, E.5    Klupsch, K.6
  • 52
    • 70450224253 scopus 로고    scopus 로고
    • Parkin and PINK1 parkinsonism may represent nigral mitochondrial cytopathies distinct from Lewy body Parkinson's disease
    • Ahlskog JE (2009) Parkin and PINK1 parkinsonism may represent nigral mitochondrial cytopathies distinct from Lewy body Parkinson's disease. Parkinsonism Relat Disord 15(10):721-727
    • (2009) Parkinsonism Relat Disord , vol.15 , Issue.10 , pp. 721-727
    • Ahlskog, J.E.1
  • 54
    • 84858403126 scopus 로고    scopus 로고
    • Deficiency of ATP13A2 leads to lysosomal dysfunction, asynuclein accumulation, and neurotoxicity
    • Usenovic M, Tresse E, Mazzulli JR, Taylor JP, Krainc D (2012) Deficiency of ATP13A2 leads to lysosomal dysfunction, asynuclein accumulation, and neurotoxicity. J Neurosci: Off J Soc Neurosci 32(12):4240-4246
    • (2012) J Neurosci: Off J Soc Neurosci , vol.32 , Issue.12 , pp. 4240-4246
    • Usenovic, M.1    Tresse, E.2    Mazzulli, J.R.3    Taylor, J.P.4    Krainc, D.5
  • 55
    • 77953512439 scopus 로고    scopus 로고
    • Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations
    • Paisán-Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, Elahi E et al (2010) Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord: Off J Mov Disord Soc 25(12):1791-1800
    • (2010) Mov Disord: Off J Mov Disord Soc , vol.25 , Issue.12 , pp. 1791-1800
    • Paisán-Ruiz, C.1    Guevara, R.2    Federoff, M.3    Hanagasi, H.4    Sina, F.5    Elahi, E.6
  • 59
    • 84863688304 scopus 로고    scopus 로고
    • F-Box Only Protein 7 Gene in Parkinsonian-Pyramidal Disease
    • Deng H, Liang H, Jankovic J (2012) F-Box Only Protein 7 Gene in Parkinsonian-Pyramidal Disease. Archives Neurol 1:1-5
    • (2012) Archives Neurol , vol.1 , pp. 1-5
    • Deng, H.1    Liang, H.2    Jankovic, J.3
  • 60
    • 84858009799 scopus 로고    scopus 로고
    • Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease
    • Simón-Sánchez J, Kilarski LL, Nalls MA, Martinez M, Schulte C, Holmans P et al (2012) Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease. PLoS ONE 7(3):e28787
    • (2012) PLoS ONE , vol.7 , Issue.3
    • Simón-Sánchez, J.1    Kilarski, L.L.2    Nalls, M.A.3    Martinez, M.4    Schulte, C.5    Holmans, P.6
  • 61
    • 70549088602 scopus 로고    scopus 로고
    • Genome-wide association study reveals genetic risk underlying Parkinson's disease
    • Simón-Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D et al (2009) Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet 41(12):1308-1312
    • (2009) Nat Genet , vol.41 , Issue.12 , pp. 1308-1312
    • Simón-Sánchez, J.1    Schulte, C.2    Bras, J.M.3    Sharma, M.4    Gibbs, J.R.5    Berg, D.6
  • 62
    • 70549084415 scopus 로고    scopus 로고
    • Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease
    • Satake W, Nakabayashi Y, Mizuta I, Hirota Y, Ito C, Kubo M et al (2009) Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet 41(12):1303-1307
    • (2009) Nat Genet , vol.41 , Issue.12 , pp. 1303-1307
    • Satake, W.1    Nakabayashi, Y.2    Mizuta, I.3    Hirota, Y.4    Ito, C.5    Kubo, M.6
  • 64
    • 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, Pugh EW et al (2009) Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet 124(6):593-605
    • (2009) Hum Genet , vol.124 , Issue.6 , pp. 593-605
    • Pankratz, N.1    Wilk, J.B.2    Latourelle, J.C.3    DeStefano, A.L.4    Halter, C.5    Pugh, E.W.6
  • 65
    • 77951185469 scopus 로고    scopus 로고
    • Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease
    • Edwards TL, Scott WK, Almonte C, Burt A, Powell EH, Beecham GW et al (2010) Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Ann Hum Genet 74(2):97-109
    • (2010) Ann Hum Genet , vol.74 , Issue.2 , pp. 97-109
    • Edwards, T.L.1    Scott, W.K.2    Almonte, C.3    Burt, A.4    Powell, E.H.5    Beecham, G.W.6
  • 66
    • 77956646167 scopus 로고    scopus 로고
    • Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease
    • Hamza TH, Zabetian CP, Tenesa A, Laederach A, Montimurro J, Yearout D et al (2010) Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. Nat Genet 42(9):781-785
    • (2010) Nat Genet , vol.42 , Issue.9 , pp. 781-785
    • Hamza, T.H.1    Zabetian, C.P.2    Tenesa, A.3    Laederach, A.4    Montimurro, J.5    Yearout, D.6
  • 67
    • 78651110778 scopus 로고    scopus 로고
    • Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population
    • Saad M, Lesage S, Saint-Pierre A, Corvol J-C, Zelenika D, Lambert J-C et al (2011) Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population. Hum Mol Genet 20(3):615-627
    • (2011) Hum Mol Genet , vol.20 , Issue.3 , pp. 615-627
    • Saad, M.1    Lesage, S.2    Saint-Pierre, A.3    Corvol, J.-C.4    Zelenika, D.5    Lambert, J.-C.6
  • 68
    • 78650550275 scopus 로고    scopus 로고
    • Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21
    • Spencer CCA, Plagnol V, Strange A, Gardner M, Paisan-Ruiz C, Band G et al (2011) Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21. Hum Mol Genet 20(2):345-353
    • (2011) Hum Mol Genet , vol.20 , Issue.2 , pp. 345-353
    • Spencer, C.C.A.1    Plagnol, V.2    Strange, A.3    Gardner, M.4    Paisan-Ruiz, C.5    Band, G.6
  • 69
    • 79951811351 scopus 로고    scopus 로고
    • Imputation of sequence variants for identification of genetic risks for Parkinson's disease: A meta-analysis of genome-wide association studies
    • Nalls MA, Plagnol V, Hernandez DG, Sharma M, Sheerin U-M, Saad M et al (2011) Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet 377(9766):641-649
    • (2011) Lancet , vol.377 , Issue.9766 , pp. 641-649
    • Nalls, M.A.1    Plagnol, V.2    Hernandez, D.G.3    Sharma, M.4    Sheerin, U.-M.5    Saad, M.6
  • 71
    • 79959841853 scopus 로고    scopus 로고
    • Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease
    • Do CB, Tung JY, Dorfman E, Kiefer AK, Drabant EM, Francke U et al (2011) Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS Genet 7(6):e1002141
    • (2011) PLoS Genet , vol.7 , Issue.6
    • Do, C.B.1    Tung, J.Y.2    Dorfman, E.3    Kiefer, A.K.4    Drabant, E.M.5    Francke, U.6
  • 72
    • 79960981876 scopus 로고    scopus 로고
    • Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population
    • Liu X, Cheng R, Verbitsky M, Kisselev S, Browne A, Mejia-Sanatana H et al (2011) Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. BMC Med Genet 12:104
    • (2011) BMC Med Genet , vol.12 , pp. 104
    • Liu, X.1    Cheng, R.2    Verbitsky, M.3    Kisselev, S.4    Browne, A.5    Mejia-Sanatana, H.6
  • 75
    • 65949104586 scopus 로고    scopus 로고
    • Genomewide association studies and human disease
    • Hardy J, Singleton A (2009) Genomewide association studies and human disease. N Engl J Med 360(17):1759-1768
    • (2009) N Engl J Med , vol.360 , Issue.17 , pp. 1759-1768
    • Hardy, J.1    Singleton, A.2
  • 76
    • 34250305146 scopus 로고    scopus 로고
    • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
    • Birney E, Stamatoyannopoulos JA, Dutta A, Guigó R, Gingeras TR, Margulies EH et al (2007) Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 447(7146):799-816
    • (2007) Nature , vol.447 , Issue.7146 , pp. 799-816
    • Birney, E.1    Stamatoyannopoulos, J.A.2    Dutta, A.3    Guigó, R.4    Gingeras, T.R.5    Margulies, E.H.6
  • 77
    • 84868134823 scopus 로고    scopus 로고
    • Using genome-wide complex trait analysis to quantify "missing heritability" in Parkinson's disease
    • Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Simón- Sánchez J et al (2012) Using genome-wide complex trait analysis to quantify "missing heritability" in Parkinson's disease. Hum Mol Genet 21(22):4996-5009
    • (2012) Hum Mol Genet , vol.21 , Issue.22 , pp. 4996-5009
    • Keller, M.F.1    Saad, M.2    Bras, J.3    Bettella, F.4    Nicolaou, N.5    Simón- Sánchez, J.6
  • 82
    • 67650087652 scopus 로고    scopus 로고
    • Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
    • Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH et al (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain: J Neurol 132(Pt 7):1783-1794
    • (2009) Brain: J Neurol , vol.132 , Issue.PART 7 , pp. 1783-1794
    • Neumann, J.1    Bras, J.2    Deas, E.3    O'Sullivan, S.S.4    Parkkinen, L.5    Lachmann, R.H.6
  • 84
    • 84874307778 scopus 로고    scopus 로고
    • Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort
    • Winder-Rhodes SE, Evans JR, Ban M, Mason SL, Williams-Gray CH, Foltynie T et al (2013) Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort. Brain: J Neurol 136(Pt 2):392-399
    • (2013) Brain: J Neurol , vol.136 , Issue.PART 2 , pp. 392-399
    • Winder-Rhodes, S.E.1    Evans, J.R.2    Ban, M.3    Mason, S.L.4    Williams-Gray, C.H.5    Foltynie, T.6
  • 85
    • 84863986749 scopus 로고    scopus 로고
    • A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers
    • McNeill A, Duran R, Hughes DA, Mehta A, Schapira AHV (2012) A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers. J Neurol Neurosurg Psychiatr 83(8):853-854
    • (2012) J Neurol Neurosurg Psychiatr , vol.83 , Issue.8 , pp. 853-854
    • McNeill, A.1    Duran, R.2    Hughes, D.A.3    Mehta, A.4    Schapira, A.H.V.5
  • 86
    • 84867036900 scopus 로고    scopus 로고
    • Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains
    • Gegg ME, Burke D, Heales SJR, Cooper JM, Hardy J, Wood NW et al (2012) Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol 72(3):455-463
    • (2012) Ann Neurol , vol.72 , Issue.3 , pp. 455-463
    • Gegg, M.E.1    Burke, D.2    Heales, S.J.R.3    Cooper, J.M.4    Hardy, J.5    Wood, N.W.6
  • 87
    • 84856024666 scopus 로고    scopus 로고
    • A generalizable hypothesis for the genetic architecture of disease: Pleomorphic risk loci
    • Singleton A, Hardy J (2011) A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci. Hum Mol Genet 20(2):158-162
    • (2011) Hum Mol Genet , vol.20 , Issue.2 , pp. 158-162
    • Singleton, A.1    Hardy, J.2
  • 88
    • 79952693640 scopus 로고    scopus 로고
    • Mitophagy and Parkinson's disease: The PINK1 - Parkin link
    • doi:10.1016/j.bbamcr.2010.08.007
    • Deas E, Wood NW, Plun-Favreau H (2010) Mitophagy and Parkinson's disease: the PINK1 - parkin link. Biochim Biophys Acta 1813(4):623-633. doi:10.1016/j.bbamcr.2010.08.007
    • (2010) Biochim Biophys Acta , vol.1813 , Issue.4 , pp. 623-633
    • Deas, E.1    Wood, N.W.2    Plun-Favreau, H.3
  • 89
    • 76949092128 scopus 로고    scopus 로고
    • The PINK1/Parkin pathway: A mitochondrial quality control system?
    • Whitworth AJ, Pallanck LJ (2009) The PINK1/Parkin pathway: a mitochondrial quality control system? J Bioenergetics Biomembranes 41(6):499-503
    • (2009) J Bioenergetics Biomembranes , vol.41 , Issue.6 , pp. 499-503
    • Whitworth, A.J.1    Pallanck, L.J.2
  • 91
    • 84867257217 scopus 로고    scopus 로고
    • Rhomboid protease PARL mediates the mitochondrial membrane potential loss-induced cleavage of PGAM5
    • Sekine S, Kanamaru Y, Koike M, Nishihara A, Okada M, Kinoshita H et al (2012) Rhomboid protease PARL mediates the mitochondrial membrane potential loss-induced cleavage of PGAM5. J Biol Chem 287(41):34635-34645
    • (2012) J Biol Chem , vol.287 , Issue.41 , pp. 34635-34645
    • Sekine, S.1    Kanamaru, Y.2    Koike, M.3    Nishihara, A.4    Okada, M.5    Kinoshita, H.6
  • 92
    • 58149314211 scopus 로고    scopus 로고
    • Parkin is recruited selectively to impaired mitochondria and promotes their autophagy
    • Narendra D, Tanaka A, Suen D-F, Youle RJ (2008) Parkin is recruited selectively to impaired mitochondria and promotes their autophagy. J Cell Biol 183(5):795-803
    • (2008) J Cell Biol , vol.183 , Issue.5 , pp. 795-803
    • Narendra, D.1    Tanaka, A.2    Suen, D.-F.3    Youle, R.J.4
  • 94
    • 78649463381 scopus 로고    scopus 로고
    • Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy
    • Gegg ME, Cooper JM, Chau K-Y, Rojo M, Schapira AHV, Taanman J-W (2010) Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy. Hum Mol Genet 19(24):4861-4870
    • (2010) Hum Mol Genet , vol.19 , Issue.24 , pp. 4861-4870
    • Gegg, M.E.1    Cooper, J.M.2    Chau, K.-Y.3    Rojo, M.4    Schapira, A.H.V.5    Taanman, J.-W.6
  • 95
    • 77950384477 scopus 로고    scopus 로고
    • Drosophila parkin requires PINK1 for mitochondrial translocation and ubiquitinates mitofusin
    • Ziviani E, Tao RN, Whitworth AJ (2010) Drosophila parkin requires PINK1 for mitochondrial translocation and ubiquitinates mitofusin. Proc Natl Acad Sci USA 107(11):5018-5023
    • (2010) Proc Natl Acad Sci USA , vol.107 , Issue.11 , pp. 5018-5023
    • Ziviani, E.1    Tao, R.N.2    Whitworth, A.J.3
  • 96
    • 84868575932 scopus 로고    scopus 로고
    • Mitochondrial quality control mediated by PINK1 and Parkin: Links to parkinsonism
    • doi:10.1101/cshperspect.a011338
    • Narendra D, Walker JE, Youle R (2012) Mitochondrial quality control mediated by PINK1 and Parkin: links to parkinsonism. Cold Spring Harb Perspect Biol 4(11). doi:10.1101/cshperspect.a011338
    • (2012) Cold Spring Harb Perspect Biol , vol.4 , Issue.11
    • Narendra, D.1    Walker, J.E.2    Youle, R.3
  • 97
    • 84859237566 scopus 로고    scopus 로고
    • Parkinson's disease-associated kinase PINK1 regulates Miro protein level and axonal transport of mitochondria
    • Liu S, Sawada T, Lee S, Yu W, Silverio G, Alapatt P et al (2012) Parkinson's disease-associated kinase PINK1 regulates Miro protein level and axonal transport of mitochondria. PLoS Genet 8(3):e1002537
    • (2012) PLoS Genet , vol.8 , Issue.3
    • Liu, S.1    Sawada, T.2    Lee, S.3    Yu, W.4    Silverio, G.5    Alapatt, P.6
  • 98
    • 81055140895 scopus 로고    scopus 로고
    • PINK1 and parkin target miro for phosphorylation and degradation to arrest mitochondrial motility
    • Wang X, Winter D, Ashrafi G, Schlehe J, Wong YL, Selkoe D et al (2011) PINK1 and parkin target miro for phosphorylation and degradation to arrest mitochondrial motility. Cell 147(4):893-906
    • (2011) Cell , vol.147 , Issue.4 , pp. 893-906
    • Wang, X.1    Winter, D.2    Ashrafi, G.3    Schlehe, J.4    Wong, Y.L.5    Selkoe, D.6
  • 99
    • 84870013071 scopus 로고    scopus 로고
    • Voltage-dependent anion channels (VDACs) recruit Parkin to defective mitochondria to promote mitochondrial autophagy
    • Sun Y, Vashisht AA, Tchieu J, Wohlschlegel JA, Dreier L (2012) Voltage-dependent anion channels (VDACs) recruit Parkin to defective mitochondria to promote mitochondrial autophagy. J Biol Chem 287(48):40652-40660
    • (2012) J Biol Chem , vol.287 , Issue.48 , pp. 40652-40660
    • Sun, Y.1    Vashisht, A.A.2    Tchieu, J.3    Wohlschlegel, J.A.4    Dreier, L.5
  • 101
    • 79960009804 scopus 로고    scopus 로고
    • Gaucher disease glucocerebrosidase and a-synuclein form a bidirectional pathogenic loop in synucleinopathies
    • doi:10.1016/j.cell.2011.06.001
    • Mazzulli JR, Xu YH, Sun Y, Knight AL, McLean PJ, Caldwell GA, Sidransky E, Grabowski GA, Krainc D (2011) Gaucher disease glucocerebrosidase and a-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 146(1):37-52. doi:10.1016/j.cell.2011.06.001
    • (2011) Cell , vol.146 , Issue.1 , pp. 37-52
    • Mazzulli, J.R.1    Xu, Y.H.2    Sun, Y.3    Knight, A.L.4    McLean, P.J.5    Caldwell, G.A.6    Sidransky, E.7    Grabowski, G.A.8    Krainc, D.9
  • 102
    • 84873486299 scopus 로고    scopus 로고
    • A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease
    • Holmans P, Moskvina V, Jones L, Sharma M, Vedernikov A, Buchel F et al (2013) A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Hum Mol Genet 22(5):1039-1049
    • (2013) Hum Mol Genet , vol.22 , Issue.5 , pp. 1039-1049
    • Holmans, P.1    Moskvina, V.2    Jones, L.3    Sharma, M.4    Vedernikov, A.5    Buchel, F.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.