메뉴 건너뛰기




Volumn 14, Issue 8, 2013, Pages 502-517

Mutations in PRKN and SNCA genes important for the progress of Parkinson's disease

Author keywords

Alpha synuclein; Parkin; Parkinson's disease; PRKN; SNCA

Indexed keywords

ALPHA SYNUCLEIN; DOPAMINE; HEXOKINASE 1; LEVODOPA; PARKIN; REACTIVE OXYGEN METABOLITE;

EID: 84894092157     PISSN: 13892029     EISSN: 18755488     Source Type: Journal    
DOI: 10.2174/1389202914666131210205839     Document Type: Article
Times cited : (47)

References (190)
  • 2
    • 33745919520 scopus 로고    scopus 로고
    • Epidemiology of Parkinson's disease
    • De Lau, L. M; Breteler, M.M. Epidemiology of Parkinson's disease. Lancet. Neurol., 2006, 5, 525.
    • (2006) Lancet. Neurol , vol.5 , pp. 525
    • De Lau, L.M.1    Breteler, M.M.2
  • 5
    • 33750017421 scopus 로고    scopus 로고
    • The discovery of dopamine deficiency in the parkinsonian brain
    • Hornykiewicz, O. The discovery of dopamine deficiency in the parkinsonian brain. J. Neural. Transm., 2006, 70, 9-15.
    • (2006) J. Neural. Transm , vol.70 , pp. 9-15
    • Hornykiewicz, O.1
  • 6
    • 0023722437 scopus 로고
    • Synuclein: A neuron-specific protein localized to the nucleus and presynaptic nerve terminal
    • Maroteaux, L.; Campanelli, J.T.; Scheller, R.H. Synuclein: a neuron-specific protein localized to the nucleus and presynaptic nerve terminal. J. Neurosci., 1988, 8, 2804-2815.
    • (1988) J. Neurosci , vol.8 , pp. 2804-2815
    • Maroteaux, L.1    Campanelli, J.T.2    Scheller, R.H.3
  • 9
    • 0032102455 scopus 로고    scopus 로고
    • The synucleins: A family of proteins involved in synaptic function, plasticity, neurodegeneration and disease
    • Clayton, D.F.; George, J.M. The synucleins: a family of proteins involved in synaptic function, plasticity, neurodegeneration and disease. Trends. Neurosci., 1998, 21, 249.
    • (1998) Trends. Neurosci , vol.21 , pp. 249
    • Clayton, D.F.1    George, J.M.2
  • 11
    • 80052398365 scopus 로고    scopus 로고
    • α-Synuclein occurs physiologically as a helically folded tetramer that resists aggregation
    • Bartels, T.; Choi, J.G.; Selkoe, D.J. α-Synuclein occurs physiologically as a helically folded tetramer that resists aggregation. Nature, 2011, 14, 107.
    • (2011) Nature , vol.14 , pp. 107
    • Bartels, T.1    Choi, J.G.2    Selkoe, D.J.3
  • 12
    • 26044463717 scopus 로고    scopus 로고
    • Localization of alpha-synucleinto identified fibers and synapses in the normal mouse brain
    • Totterdell, S.; Meredith, G.E. Localization of alpha-synucleinto identified fibers and synapses in the normal mouse brain. Neuroscience, 2005, 135, 907-913.
    • (2005) Neuroscience , vol.135 , pp. 907-913
    • Totterdell, S.1    Meredith, G.E.2
  • 14
    • 0037155197 scopus 로고    scopus 로고
    • Lipid droplet binding and oligomerization properties of the Parkinson's disease protein α-synuclein
    • Cole, N.B.; Murphy, D.D.; Grider, T.; Rueter, S.; Brasaemle, D.; Nussbaum, R.L. Lipid droplet binding and oligomerization properties of the Parkinson's disease protein α-synuclein. J. Biol. Chem., 2002, 277, 6344.
    • (2002) J. Biol. Chem , vol.277 , pp. 6344
    • Cole, N.B.1    Murphy, D.D.2    Grider, T.3    Rueter, S.4    Brasaemle, D.5    Nussbaum, R.L.6
  • 15
    • 71549167611 scopus 로고    scopus 로고
    • Decreased alphasynuclein expression in the aging mouse substantia nigra
    • Mak, S.K.; McCormack, A.L.; Langston, J.W. Decreased alphasynuclein expression in the aging mouse substantia nigra. Exp. Neurol., 2009, 220, 359.
    • (2009) Exp. Neurol , vol.220 , pp. 359
    • Mak, S.K.1    McCormack, A.L.2    Langston, J.W.3
  • 16
    • 34548341065 scopus 로고    scopus 로고
    • The effect of truncated human alpha-synuclein (1-120) on dopaminergic cells in a transgenic mouse model of Parkinson's disease
    • Michell, A.W.; Tofaris, G.K.; Gossage, H.; Tyers, P; Spillantini, M.G.; Barker, R.A. The effect of truncated human alpha-synuclein (1-120) on dopaminergic cells in a transgenic mouse model of Parkinson's disease. Cell Transplant., 2007, 16, 461-474.
    • (2007) Cell Transplant , vol.16 , pp. 461-474
    • Michell, A.W.1    Tofaris, G.K.2    Gossage, H.3    Tyers, P.4    Spillantini, M.G.5    Barker, R.A.6
  • 17
    • 34247139885 scopus 로고    scopus 로고
    • Overexpression of alpha-synuclein in human neural progenitors leads to specific changes in fate and differentiation
    • Schneider, B.L.; Seehus, C.R.; Capowski, E.E.; Aebischer, P.; Zhang, S.C.; Svendsen, C.N. Overexpression of alpha-synuclein in human neural progenitors leads to specific changes in fate and differentiation. Hum. Mol. Genet., 2007, 16, 651-666.
    • (2007) Hum. Mol. Genet , vol.16 , pp. 651-666
    • Schneider, B.L.1    Seehus, C.R.2    Capowski, E.E.3    Aebischer, P.4    Zhang, S.C.5    Svendsen, C.N.6
  • 18
    • 0037185004 scopus 로고    scopus 로고
    • Alpha-synuclein lowers p53-dependent apoptotic response of neuronal cells. Abolishment by 6-hydroxydopamine and implication for Parkinson's disease
    • Costa, C.; Paitel, E.; Vincent, B. Alpha-synuclein lowers p53-dependent apoptotic response of neuronal cells. Abolishment by 6-hydroxydopamine and implication for Parkinson's disease. J. Biol. Chem., 2002, 277, 50980-50984.
    • (2002) J. Biol. Chem , vol.277 , pp. 50980-50984
    • Costa, C.1    Paitel, E.2    Vincent, B.3
  • 21
    • 0034922671 scopus 로고    scopus 로고
    • Identification of the region of non-Abeta component (NAC) of Alzheimer's disease amyloid responsible for its aggregation and toxicity
    • Bodles, A.M.; Guthrie, D.J.; Greer, B.; Irvine, G.B. Identification of the region of non-Abeta component (NAC) of Alzheimer's disease amyloid responsible for its aggregation and toxicity. J. Neurochem., 2001, 78, 384-395.
    • (2001) J. Neurochem , vol.78 , pp. 384-395
    • Bodles, A.M.1    Guthrie, D.J.2    Greer, B.3    Irvine, G.B.4
  • 22
    • 33750349255 scopus 로고    scopus 로고
    • Critical appraisal of brain pathology staging related to presymptomatic and symptomatic cases of sporadic Parkinson's disease
    • Halliday, G.M.; Del Tredici, K.; Braak, H. Critical appraisal of brain pathology staging related to presymptomatic and symptomatic cases of sporadic Parkinson's disease. J. Neural. Transm., 2006, 70, 99-103.
    • (2006) J. Neural. Transm , vol.70 , pp. 99-103
    • Halliday, G.M.1    Del Tredici, K.2    Braak, H.3
  • 23
    • 0034681163 scopus 로고    scopus 로고
    • Acceleration of oligomerization, not fibrillization, is a shared property of both α-synuclein mutations linked to early-onset Parkinson's disease: Implications for pathogenesis and therapy
    • Conway, K.A.; Lee, S.J.; Rochet, J.C.; Ding, T.T.; Williamson, R.E.; Lansbury, P.T. Jr. Acceleration of oligomerization, not fibrillization, is a shared property of both α-synuclein mutations linked to early-onset Parkinson's disease: implications for pathogenesis and therapy. Proc. Natl. Acad. Sci., 2000, 97, 571.
    • (2000) Proc. Natl. Acad. Sci , vol.97 , pp. 571
    • Conway, K.A.1    Lee, S.J.2    Rochet, J.C.3    Ding, T.T.4    Williamson, R.E.5    Lansbury Jr., P.T.6
  • 24
    • 70350590969 scopus 로고    scopus 로고
    • Toxic influence of chronic oral administration of paraquat on nigrostriatal dopaminergic neurons in C57BL/6 mice
    • Ren, J.P.; Zhao, Y.W.; Sun, X.J. Toxic influence of chronic oral administration of paraquat on nigrostriatal dopaminergic neurons in C57BL/6 mice. Chin. Med. J., 2009, 122, 2366.
    • (2009) Chin. Med. J , vol.122 , pp. 2366
    • Ren, J.P.1    Zhao, Y.W.2    Sun, X.J.3
  • 25
    • 0037104723 scopus 로고    scopus 로고
    • An in vitro model of Parkinson's disease: Linking mitochondrial impairment to altered α-synuclein metabolism and oxidative damage
    • Sherer, T.B.; Betarbet, R.; Stout, A.K.; Lund, S.; Baptista, M.; Panov, A.V.; Cookson, M.R.; Greenamyre, J.T. An in vitro model of Parkinson's disease: linking mitochondrial impairment to altered α-synuclein metabolism and oxidative damage. J. Neurosci., 2002, 22, 7006.
    • (2002) J. Neurosci , vol.22 , pp. 7006
    • Sherer, T.B.1    Betarbet, R.2    Stout, A.K.3    Lund, S.4    Baptista, M.5    Panov, A.V.6    Cookson, M.R.7    Greenamyre, J.T.8
  • 26
    • 79955535364 scopus 로고    scopus 로고
    • Hyperphosphorylated Tau in an α-synucleinoverexpressing transgenic model of Parkinson's disease
    • Haggerty, T.; Credle, J.; Rodriguez, O.; Wills, J.; Oaks, A.W.; Masliah, E.; Sidhu, A. Hyperphosphorylated Tau in an α-synucleinoverexpressing transgenic model of Parkinson's disease. Eur. J. Neurosci., 2011, 33(9), 1598-1610.
    • (2011) Eur. J. Neurosci , vol.33 , Issue.9 , pp. 1598-1610
    • Haggerty, T.1    Credle, J.2    Rodriguez, O.3    Wills, J.4    Oaks, A.W.5    Masliah, E.6    Sidhu, A.7
  • 27
    • 0035834076 scopus 로고    scopus 로고
    • β-amyloid peptides enhance α-synuclein accumulation and neuronal deficits in a transgenic mouse model linking Alzheimer's disease and Parkinson's disease
    • Masliah, E.; Rockenstein, E.; Veinbergs, I. β-amyloid peptides enhance α-synuclein accumulation and neuronal deficits in a transgenic mouse model linking Alzheimer's disease and Parkinson's disease. Proc. Natl. Acad. Sci., 2001, 98, 12245.
    • (2001) Proc. Natl. Acad. Sci , vol.98 , pp. 12245
    • Masliah, E.1    Rockenstein, E.2    Veinbergs, I.3
  • 28
    • 0035950270 scopus 로고    scopus 로고
    • β-synuclein inhibits α-synuclein aggregation: A possible role as an anti-parkinsonian factor
    • Hashimoto, M.; Rockenstein, E.; Mante, M.; Mallory, M.; Masliah, E. β-synuclein inhibits α-synuclein aggregation: a possible role as an anti-parkinsonian factor. Neuron., 2001, 32, 213.
    • (2001) Neuron , vol.32 , pp. 213
    • Hashimoto, M.1    Rockenstein, E.2    Mante, M.3    Mallory, M.4    Masliah, E.5
  • 30
    • 0034663039 scopus 로고    scopus 로고
    • The A53T alpha-synuclein mutation increases irondependent aggregation and toxicity
    • Ostrerova-Golts, N.; Petrucelli, L.; Hardy, J.; Lee, J.M.; Farer, M.; Wolozin, B. The A53T alpha-synuclein mutation increases irondependent aggregation and toxicity. J. Neurosci., 2000, 20(16), 6048-54.
    • (2000) J. Neurosci , vol.20 , Issue.16 , pp. 6048-6054
    • Ostrerova-Golts, N.1    Petrucelli, L.2    Hardy, J.3    Lee, J.M.4    Farer, M.5    Wolozin, B.6
  • 32
    • 0034489853 scopus 로고    scopus 로고
    • Alpha-synuclein and Parkinson's disease
    • Lucking, C.B.; Briece, A. Alpha-synuclein and Parkinson's disease. Cell. Mol. Life. Sci., 2000, 57, 1894.
    • (2000) Cell. Mol. Life. Sci , vol.57 , pp. 1894
    • Lucking, C.B.1    Briece, A.2
  • 35
    • 30444457574 scopus 로고    scopus 로고
    • The alpha-synuclein mutation E46K promotes aggregation in cultured cells
    • Pandey, N.; Schmidt, R.E.; Galvin, J.E. The alpha-synuclein mutation E46K promotes aggregation in cultured cells. Exper. Neurol., 2006, 197, 515.
    • (2006) Exper. Neurol , vol.197 , pp. 515
    • Pandey, N.1    Schmidt, R.E.2    Galvin, J.E.3
  • 37
    • 73249132349 scopus 로고    scopus 로고
    • Endogenous catecholamine enhances the dysfunction of unfolded protein response and alpha-synuclein oligomerization in PC12 cells overexpressing human alpha-synuclein
    • Ito, S.; Nakaso, K.; Imamura, K.; Takeshima, T.; Nakashima, K. Endogenous catecholamine enhances the dysfunction of unfolded protein response and alpha-synuclein oligomerization in PC12 cells overexpressing human alpha-synuclein. Neurosci. Res., 2010, 66, 124.
    • (2010) Neurosci. Res , vol.66 , pp. 124
    • Ito, S.1    Nakaso, K.2    Imamura, K.3    Takeshima, T.4    Nakashima, K.5
  • 38
    • 62049084616 scopus 로고    scopus 로고
    • Dopamine and the dopamine oxidation product 5,6-dihydroxylindole promote distinct on-pathway and off-pathway aggregation of alpha-synuclein in a pH-dependent manner
    • Pham, C.L.; Leong, S.L.; Ali, F.E.; Kenche, V.B.; Hill, A.F.; Gras, S.L.; Barnham, K.J.; Cappai, R. Dopamine and the dopamine oxidation product 5,6-dihydroxylindole promote distinct on-pathway and off-pathway aggregation of alpha-synuclein in a pH-dependent manner. J. Mol. Biol., 2009, 387, 771.
    • (2009) J. Mol. Biol , vol.387 , pp. 771
    • Pham, C.L.1    Leong, S.L.2    Ali, F.E.3    Kenche, V.B.4    Hill, A.F.5    Gras, S.L.6    Barnham, K.J.7    Cappai, R.8
  • 39
    • 0034604583 scopus 로고    scopus 로고
    • Wild-type but not Parkinson's disease-related Ala53Thr mutant alpha-synuclein protects neuronal cells from apoptotic stimuli
    • Da Costa, C.A.; Ancolio, K.; Checler, F. Wild-type but not Parkinson's disease-related Ala53Thr mutant alpha-synuclein protects neuronal cells from apoptotic stimuli. J. Biol. Chem., 2000, 275, 24065.
    • (2000) J. Biol. Chem , vol.275 , pp. 24065
    • Da Costa, C.A.1    Ancolio, K.2    Checler, F.3
  • 40
    • 0038701729 scopus 로고    scopus 로고
    • Co-ordinate transcriptional regulation of dopamine synthesis genes by alpha-synuclein In human neuroblastoma cell lines
    • Baptista, M.J.; O'Farrell, C.; Daya, S. Co-ordinate transcriptional regulation of dopamine synthesis genes by alpha-synuclein In human neuroblastoma cell lines. J. Neurochem., 2003, 85, 957.
    • (2003) J. Neurochem , vol.85 , pp. 957
    • Baptista, M.J.1    O'Farrell, C.2    Daya, S.3
  • 41
    • 0037265622 scopus 로고    scopus 로고
    • Constitutively and autonomously active protein kinase C associated with 14-3-3 zeta in the rodent brain
    • Dai, J.G.; Murakami K. Constitutively and autonomously active protein kinase C associated with 14-3-3 zeta in the rodent brain. J. Neurochem., 2003, 84, 23.
    • (2003) J. Neurochem , vol.84 , pp. 23
    • Dai, J.G.1    Murakami, K.2
  • 42
    • 0036724202 scopus 로고    scopus 로고
    • Alpha-Synuclein exhibits competitive interaction between calmodulin and synthetic membranes
    • Lee, D.; Lee, S.Y.; Lee, E.N.; Chang, C.S.; Paik, S.R. Alpha-Synuclein exhibits competitive interaction between calmodulin and synthetic membranes. J. Neurochem., 2002, 82, 1007.
    • (2002) J. Neurochem , vol.82 , pp. 1007
    • Lee, D.1    Lee, S.Y.2    Lee, E.N.3    Chang, C.S.4    Paik, S.R.5
  • 43
    • 15744405993 scopus 로고    scopus 로고
    • Synuclein, dopamine and oxidative stress: Coconspirators in Parkinson. s disease?
    • Maguire-Zeiss, K.A.; Short, D.W.; Federoff, H.J. Synuclein, dopamine and oxidative stress: coconspirators in Parkinson. s disease? Mol. Brain Res., 2005, 134, 18.
    • (2005) Mol. Brain Res , vol.134 , pp. 18
    • Maguire-Zeiss, K.A.1    Short, D.W.2    Federoff, H.J.3
  • 44
    • 0037064078 scopus 로고    scopus 로고
    • Effect of mutant α-synuclein on dopamine homeostasis in a new human mesencephalic cell line
    • Lotharius, J.; Barg, S.; Wiekop, P.; Lundberg, C.; Raymon, H.K.; Brundin, P. Effect of mutant α-synuclein on dopamine homeostasis in a new human mesencephalic cell line. J. Biol. Chem., 2002, 277, 38884.
    • (2002) J. Biol. Chem , vol.277 , pp. 38884
    • Lotharius, J.1    Barg, S.2    Wiekop, P.3    Lundberg, C.4    Raymon, H.K.5    Brundin, P.6
  • 45
    • 0037426704 scopus 로고    scopus 로고
    • Alpha synuclein promoter and risk of Parkinson's disease: Microsatellite and allelic size variability
    • Tan, E.K.; Tan, C.; Shen, H.; Chai, A.; Lum, S.Y.; Teoh, M.L.; Yih, Y.; Wong, M.C.; Zhao, Y. Alpha synuclein promoter and risk of Parkinson's disease: microsatellite and allelic size variability. Neurosci. Lett., 2003, 336, 70.
    • (2003) Neurosci. Lett , vol.336 , pp. 70
    • Tan, E.K.1    Tan, C.2    Shen, H.3    Chai, A.4    Lum, S.Y.5    Teoh, M.L.6    Yih, Y.7    Wong, M.C.8    Zhao, Y.9
  • 46
    • 4143144205 scopus 로고    scopus 로고
    • Catecholamine metabolism: A contemporary view with implications for physiology and medicine
    • Eisenhofer, G.; Kopin, I.J.; Goldstein, D.S. Catecholamine metabolism: a contemporary view with implications for physiology and medicine. Pharmacol. Rev., 2004, 56, 331.
    • (2004) Pharmacol. Rev , vol.56 , pp. 331
    • Eisenhofer, G.1    Kopin, I.J.2    Goldstein, D.S.3
  • 48
    • 0036797552 scopus 로고    scopus 로고
    • Impaired dopamine storage resulting from alpha-synuclein mutations may contribute to the pathogenesis of Parkinson's disease
    • Lotharius, J.; Brundin, P. Impaired dopamine storage resulting from alpha-synuclein mutations may contribute to the pathogenesis of Parkinson's disease. Hum. Mol. Genet., 2002, 11, 2395.
    • (2002) Hum. Mol. Genet , vol.11 , pp. 2395
    • Lotharius, J.1    Brundin, P.2
  • 52
    • 39049182861 scopus 로고    scopus 로고
    • Clinical catecholamine neurochemistry: A legacy of Julius Axelrod
    • Goldstein, D.S.; Eisenhofer, G.; Kopin, I.J. Clinical catecholamine neurochemistry: a legacy of Julius Axelrod. Cell. Mol. Neurobiol., 2006, 26, 695.
    • (2006) Cell. Mol. Neurobiol , vol.26 , pp. 695
    • Goldstein, D.S.1    Eisenhofer, G.2    Kopin, I.J.3
  • 57
    • 33751019425 scopus 로고    scopus 로고
    • Levels of alphasynuclein mRNA in sporadic Parkinson disease patients
    • Chiba-Falek, O.; Lopez, G.J.; Nussbaum, R.L. Levels of alphasynuclein mRNA in sporadic Parkinson disease patients. Mov. Disord., 2006, 21, 1703.
    • (2006) Mov. Disord , vol.21 , pp. 1703
    • Chiba-Falek, O.1    Lopez, G.J.2    Nussbaum, R.L.3
  • 59
    • 12744258045 scopus 로고    scopus 로고
    • Australian data and meta-analysis lend support for alpha-synuclein (NACP-Rep1) as a risk factor for Parkinson's disease
    • Mellick, G.D.; Maraganore, D.M.; Silburn, P.A. Australian data and meta-analysis lend support for alpha-synuclein (NACP-Rep1) as a risk factor for Parkinson's disease. Neurosci. Lett., 2005, 375, 112.
    • (2005) Neurosci. Lett , vol.375 , pp. 112
    • Mellick, G.D.1    Maraganore, D.M.2    Silburn, P.A.3
  • 60
    • 0035894661 scopus 로고    scopus 로고
    • Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system
    • Chiba-Falek, O.; Nussbaum, R.L. Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system. Hum. Mol. Genet., 2001, 10, 3101.
    • (2001) Hum. Mol. Genet , vol.10 , pp. 3101
    • Chiba-Falek, O.1    Nussbaum, R.L.2
  • 62
    • 0034646346 scopus 로고    scopus 로고
    • Polymorphism of NACP-Rep1 in Parkinson's disease: An etiologic link with essential tremor?
    • Tan, E.K.; Matsuura, T.; Nagamitsu, S.; Khajavi, M.; Jankovic, J.; Ashizawa, T. Polymorphism of NACP-Rep1 in Parkinson's disease: an etiologic link with essential tremor? Neurology, 2000, 54, 1195-1198.
    • (2000) Neurology , vol.54 , pp. 1195-1198
    • Tan, E.K.1    Matsuura, T.2    Nagamitsu, S.3    Khajavi, M.4    Jankovic, J.5    Ashizawa, T.6
  • 63
    • 33746869343 scopus 로고    scopus 로고
    • Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease
    • Maraganore, D.M.; de Andrade, M.; Elbaz, A. Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA., 2006, 296, 661-670.
    • (2006) JAMA , vol.296 , pp. 661-670
    • Maraganore, D.M.1    de Andrade, M.2    Elbaz, A.3
  • 65
    • 0037072284 scopus 로고    scopus 로고
    • Lansbury PT Jr. Annular asynuclein protofibrils are produced when spherical protofibrils are incubated in solution or bound to brain-derived membranes
    • Ding, T.T.; Lee, S.J.; Rochet, J.C. Lansbury PT Jr. Annular asynuclein protofibrils are produced when spherical protofibrils are incubated in solution or bound to brain-derived membranes. Biochemistry, 2002, 41, 10209-10217.
    • (2002) Biochemistry , vol.41 , pp. 10209-10217
    • Ding, T.T.1    Lee, S.J.2    Rochet, J.C.3
  • 68
    • 46949094193 scopus 로고    scopus 로고
    • Multiple alpha-synuclein gene polymorphisms are associated with Parkinson's disease in a Norwegian population
    • Myhre, R.; Toft, M.; Kachergus, J.; Hulihan, M.M.; Aasly, J.O.; Klungland, H.; Farrer, M.J. Multiple alpha-synuclein gene polymorphisms are associated with Parkinson's disease in a Norwegian population. Acta. Neurol. Scand., 2008, 118, 320-327.
    • (2008) Acta. Neurol. Scand , vol.118 , pp. 320-327
    • Myhre, R.1    Toft, M.2    Kachergus, J.3    Hulihan, M.M.4    Aasly, J.O.5    Klungland, H.6    Farrer, M.J.7
  • 70
    • 84866164284 scopus 로고    scopus 로고
    • α-Synuclein Genetic Variants Predict Faster Motor Symptom Progression in Idiopathic Parkinson Disease
    • Ritz, B.; Rhodes, S.L.; Bordelon, Y.; Broinstein, J. α-Synuclein Genetic Variants Predict Faster Motor Symptom Progression in Idiopathic Parkinson Disease. PLoS One, 2012, 7, 36199.
    • (2012) PLoS One , vol.7 , pp. 36199
    • Ritz, B.1    Rhodes, S.L.2    Bordelon, Y.3    Broinstein, J.4
  • 71
    • 33646249380 scopus 로고    scopus 로고
    • Association of alpha-synuclein Rep1 polymorphism and Parkinson's disease: Influence of Rep1 on age at onset
    • Hadjigeorgiou, G.M.; Xiromerisiou, G.; Gourbali, V. Association of alpha-synuclein Rep1 polymorphism and Parkinson's disease: influence of Rep1 on age at onset. Mov. Disord., 2006, 21, 534-539.
    • (2006) Mov. Disord , vol.21 , pp. 534-539
    • Hadjigeorgiou, G.M.1    Xiromerisiou, G.2    Gourbali, V.3
  • 73
    • 1842455356 scopus 로고    scopus 로고
    • Parkin genetics: One model for Parkinson's disease
    • Mata, I.F.; Lockhart, P.J.; Farrer, M.J. Parkin genetics: one model for Parkinson's disease. Hum. Mol. Genet., 2004, 13, 127.
    • (2004) Hum. Mol. Genet , vol.13 , pp. 127
    • Mata, I.F.1    Lockhart, P.J.2    Farrer, M.J.3
  • 74
    • 0032693422 scopus 로고    scopus 로고
    • Identification and distribution of parkin in rat brain
    • Horowitz, J.M.; Myers, J.; Stachowiak, M.K.; Torres, G. Identification and distribution of parkin in rat brain. NeuroReport., 1996, 10, 3393-3397.
    • (1996) NeuroReport , vol.10 , pp. 3393-3397
    • Horowitz, J.M.1    Myers, J.2    Stachowiak, M.K.3    Torres, G.4
  • 75
    • 0345304849 scopus 로고    scopus 로고
    • Genomic organization and expression of parkin in Drosophila melanogaster
    • Bae, Y.J.; Park, K.S.; Kang, S.J. Genomic organization and expression of parkin in Drosophila melanogaster. Exp. Mol. Med., 2003, 35, 393-402.
    • (2003) Exp. Mol. Med , vol.35 , pp. 393-402
    • Bae, Y.J.1    Park, K.S.2    Kang, S.J.3
  • 76
    • 0034639940 scopus 로고    scopus 로고
    • A role for Caenorhabditis elegans in understanding the function and interactions of human disease genes
    • Culetto, E.; Sattelle, D.B. A role for Caenorhabditis elegans in understanding the function and interactions of human disease genes. Hum. Mol. Genet., 2000, 9, 869-877.
    • (2000) Hum. Mol. Genet , vol.9 , pp. 869-877
    • Culetto, E.1    Sattelle, D.B.2
  • 77
    • 0032499264 scopus 로고    scopus 로고
    • Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
    • Kitada, T.; Asakawa, S.; Hattori, N.; Matsumine, H.; Yamamura, Y.; Minoshima, S. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature, 1998, 392, 605-608.
    • (1998) Nature , vol.392 , pp. 605-608
    • Kitada, T.1    Asakawa, S.2    Hattori, N.3    Matsumine, H.4    Yamamura, Y.5    Minoshima, S.6
  • 78
    • 70350345827 scopus 로고    scopus 로고
    • Parkinson's disease-associated parkin colocalizes with Alzheimer's disease and multiple sclerosis brain lesions
    • Witte, M.E.; Bol, J.G.; Gerritsen, W.H.; van der Valk, P.; Drukarch, B.; van Horssen, J. Parkinson's disease-associated parkin colocalizes with Alzheimer's disease and multiple sclerosis brain lesions. Neurobiol. Dis., 2009, 36, 445-452.
    • (2009) Neurobiol. Dis , vol.36 , pp. 445-452
    • Witte, M.E.1    Bol, J.G.2    Gerritsen, W.H.3    van der Valk, P.4    Drukarch, B.5    van Horssen, J.6
  • 81
    • 70349331195 scopus 로고    scopus 로고
    • Protein import machineries in endosymbiotic organelles
    • Balsera, M.; Soll, J.; Bolter, B., Protein import machineries in endosymbiotic organelles. Cell. Mol. Life Sci., 2009, 66, 1903-1923.
    • (2009) Cell. Mol. Life Sci , vol.66 , pp. 1903-1923
    • Balsera, M.1    Soll, J.2    Bolter, B.3
  • 82
    • 0031018141 scopus 로고    scopus 로고
    • Pro-and anti-oxidant activities of the mitochondrial respiratory chain:Factors influencing NAD(P)H-induced lipid peroxidation
    • Glinn, M.A.; Lee, C.P.; Ernster, L. Pro-and anti-oxidant activities of the mitochondrial respiratory chain:factors influencing NAD(P)H-induced lipid peroxidation. Biochimica. Et. Biophysica. Acta, 1997, 1318, 246-254.
    • (1997) Biochimica. Et. Biophysica. Acta , vol.1318 , pp. 246-254
    • Glinn, M.A.1    Lee, C.P.2    Ernster, L.3
  • 84
    • 0034700158 scopus 로고    scopus 로고
    • Parkin functions as an E2-dependent ubiquitinprotein ligase and promotes the degradation of the synaptic vesicleassociated protein, CDCrel-1
    • Zhang, Y.; Gao, J.; Chung, K.K.; Huang, H.; Dawson, V.L.; Dawson, T.M. Parkin functions as an E2-dependent ubiquitinprotein ligase and promotes the degradation of the synaptic vesicleassociated protein, CDCrel-1. Proc. Natl. Acad. Sci., 2000, 97, 13354.
    • (2000) Proc. Natl. Acad. Sci , vol.97 , pp. 13354
    • Zhang, Y.1    Gao, J.2    Chung, K.K.3    Huang, H.4    Dawson, V.L.5    Dawson, T.M.6
  • 86
    • 2442680341 scopus 로고    scopus 로고
    • The value of DNA methylation analysis in basic, initial toxicity assessments
    • Watson, R.E.; McKim, J.M.; Cockerell, G.L.; Goodman, J.I. The value of DNA methylation analysis in basic, initial toxicity assessments. Toxicol. Sci., 2004, 79, 178-188.
    • (2004) Toxicol. Sci , vol.79 , pp. 178-188
    • Watson, R.E.1    McKim, J.M.2    Cockerell, G.L.3    Goodman, J.I.4
  • 88
    • 0017282310 scopus 로고
    • Regulation of pyruvate dehydrogenase by fatty acid in isolated rat liver mitochondria
    • Batenburg, J.J.; Olson, M.S. Regulation of pyruvate dehydrogenase by fatty acid in isolated rat liver mitochondria. J. Biol. Chem., 1976, 251, 1364-1370.
    • (1976) J. Biol. Chem , vol.251 , pp. 1364-1370
    • Batenburg, J.J.1    Olson, M.S.2
  • 89
    • 0017250654 scopus 로고
    • Energy-dependent uptake of ochratoxin A by mitochondria
    • Meisner, H. Energy-dependent uptake of ochratoxin A by mitochondria. Arch Biochem. Biophys., 1976, 173, 132-140.
    • (1976) Arch Biochem. Biophys , vol.173 , pp. 132-140
    • Meisner, H.1
  • 91
    • 0017236008 scopus 로고
    • The calcium-binding glycoprotein and mitochondrial calcium movements
    • Sandri, G.; Panfili, E.; Sottocasa, G.L. The calcium-binding glycoprotein and mitochondrial calcium movements. Biochem. Biophys. Res. Commun., 1976, 68, 1272-1279.
    • (1976) Biochem. Biophys. Res. Commun , vol.68 , pp. 1272-1279
    • Sandri, G.1    Panfili, E.2    Sottocasa, G.L.3
  • 92
    • 0032535275 scopus 로고    scopus 로고
    • Mitochondrial control of acute glutamate excitotoxicity in cultured cerebellar granule cells
    • Castilho, R.F.; Hansson, O.; Ward, M.W.; Budd, S.L.; Nicholls, D.G. Mitochondrial control of acute glutamate excitotoxicity in cultured cerebellar granule cells. J. Neurosci., 1998, 18, 10277-10286.
    • (1998) J. Neurosci , vol.18 , pp. 10277-10286
    • Castilho, R.F.1    Hansson, O.2    Ward, M.W.3    Budd, S.L.4    Nicholls, D.G.5
  • 93
    • 0017225177 scopus 로고
    • Further studies on the effect of phosphoenolpyruvate on respiration-dependent calcium transport by rat heart mitochondria
    • Chudapongse, P. Further studies on the effect of phosphoenolpyruvate on respiration-dependent calcium transport by rat heart mitochondria. Biochimica. Et. Biophysica. Acta, 1976, 423, 196-202.
    • (1976) Biochimica. Et. Biophysica. Acta , vol.423 , pp. 196-202
    • Chudapongse, P.1
  • 95
    • 4444327827 scopus 로고    scopus 로고
    • Parkin protects human dopaminergic neuroblastoma cells against dopamine-induced apoptosis
    • Jiang, H.; Ren, Y.; Zhao, J.; Feng, J. Parkin protects human dopaminergic neuroblastoma cells against dopamine-induced apoptosis. Hum. Mol. Genet., 13, 1745-1754.
    • Hum. Mol. Genet , vol.13 , pp. 1745-1754
    • Jiang, H.1    Ren, Y.2    Zhao, J.3    Feng, J.4
  • 97
    • 58149314211 scopus 로고    scopus 로고
    • Parkin is recruited selectively to impaired mitochondria and promotes their autophagy
    • Narendra, D.; Tanaka, A.; Suen, D.F.; Youle, R.J. Parkin is recruited selectively to impaired mitochondria and promotes their autophagy. J. Cell., 2008, 183, 795-803.
    • (2008) J. Cell , vol.183 , pp. 795-803
    • Narendra, D.1    Tanaka, A.2    Suen, D.F.3    Youle, R.J.4
  • 98
    • 79960493052 scopus 로고    scopus 로고
    • Parkin promotes the ubiquitination and degradation of the mitochondrial fusion factor mitofusin 1
    • Glauser, L.; Sonnay, S.; Stafa, K.; Moore, D.J. Parkin promotes the ubiquitination and degradation of the mitochondrial fusion factor mitofusin 1. J. Neurochem., 2011, 118(4), 636-645.
    • (2011) J. Neurochem , vol.118 , Issue.4 , pp. 636-645
    • Glauser, L.1    Sonnay, S.2    Stafa, K.3    Moore, D.J.4
  • 99
    • 79957472437 scopus 로고    scopus 로고
    • Parkin mediates proteasome-dependent protein degradation and rupture of the outer mitochondrial membrane
    • Yoshii, S.R.; Kishi, C.; Ishihara, N.; Mizushima, N. Parkin mediates proteasome-dependent protein degradation and rupture of the outer mitochondrial membrane. J. Biol. Chem., 2011, 286(22), 19630-19640.
    • (2011) J. Biol. Chem , vol.286 , Issue.22 , pp. 19630-19640
    • Yoshii, S.R.1    Kishi, C.2    Ishihara, N.3    Mizushima, N.4
  • 100
    • 2542534741 scopus 로고    scopus 로고
    • S-nitrosylation of parkin regulates ubiquitination and compromises parkin's protective function
    • Chung, K.K.; Thomas, B.; Li, X.; Troncoso, J.C.; Marsh, L.; Dawson, V.L.; Dawson, T.M. S-nitrosylation of parkin regulates ubiquitination and compromises parkin's protective function. Science, 2004, 304, 1328.
    • (2004) Science , vol.304 , pp. 1328
    • Chung, K.K.1    Thomas, B.2    Li, X.3    Troncoso, J.C.4    Marsh, L.5    Dawson, V.L.6    Dawson, T.M.7
  • 102
    • 0035854425 scopus 로고    scopus 로고
    • Neuroscience. Parkin and its substrates
    • Haass, C.; Kahle, P.J. Neuroscience. Parkin and its substrates. Science, 2001, 293, 224.
    • (2001) Science , vol.293 , pp. 224
    • Haass, C.1    Kahle, P.J.2
  • 104
    • 33645635706 scopus 로고    scopus 로고
    • Diverse effects of pathogenic mutations of parkin that catalyze multiple monoubiquitylation in vitro
    • Matsuda, N.; Kitami, T.; Suzuki, T.; Mizuno, Y.; Hattori, N.; Tanaka, K. Diverse effects of pathogenic mutations of parkin that catalyze multiple monoubiquitylation in vitro. J. Biol. Chem., 2006, 281, 3204-3209.
    • (2006) J. Biol. Chem , vol.281 , pp. 3204-3209
    • Matsuda, N.1    Kitami, T.2    Suzuki, T.3    Mizuno, Y.4    Hattori, N.5    Tanaka, K.6
  • 105
    • 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. Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity. Hum. Mol. Genet., 2006, 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
  • 106
    • 20444450523 scopus 로고    scopus 로고
    • Alpha-synuclein and parkin contribute to the assembly of ubiquitin lysine 63-linked multiubiquitin chains
    • Doss-Pepe, E.W.; Chen, L.; Madura, K. Alpha-synuclein and parkin contribute to the assembly of ubiquitin lysine 63-linked multiubiquitin chains. J. Biol. Chem., 2005, 280, 16619-16624.
    • (2005) J. Biol. Chem , vol.280 , pp. 16619-16624
    • Doss-Pepe, E.W.1    Chen, L.2    Madura, K.3
  • 107
    • 33846471122 scopus 로고    scopus 로고
    • Proteasome-independent functions of ubiquitin in endocytosis and signaling
    • Mukhopadhyay, D.; Riezman, H. Proteasome-independent functions of ubiquitin in endocytosis and signaling. Science, 2007, 315, 201-205.
    • (2007) Science , vol.315 , pp. 201-205
    • Mukhopadhyay, D.1    Riezman, H.2
  • 109
    • 33344456519 scopus 로고    scopus 로고
    • Parkin-mediated lysine 63-linked polyubiquitination: A link to protein inclusions formation in Parkinson's and other conformational diseases?
    • Lim, K. L.; Dawson, V.L.; Dawson, T.M. Parkin-mediated lysine 63-linked polyubiquitination: a link to protein inclusions formation in Parkinson's and other conformational diseases? Neurobiol. Aging, 2006, 27, 524.
    • (2006) Neurobiol. Aging , vol.27 , pp. 524
    • Lim, K.L.1    Dawson, V.L.2    Dawson, T.M.3
  • 110
    • 0034578389 scopus 로고    scopus 로고
    • Aggresomes, inclusion bodies and protein aggregation
    • Kopito, R.R. Aggresomes, inclusion bodies and protein aggregation. Trends Cell Biol., 2000, 10, 524.
    • (2000) Trends Cell Biol , vol.10 , pp. 524
    • Kopito, R.R.1
  • 112
    • 34547452306 scopus 로고    scopus 로고
    • GPR37 associates with the dopamine transporter to modulate dopamine uptake and behavioral responses to dopaminergic drugs
    • Marazziti, D.; Mandillo, S.; Di Pietro, C.; Golini, E.; Matteoni, R.; Tocchini-Valentini, G.P. GPR37 associates with the dopamine transporter to modulate dopamine uptake and behavioral responses to dopaminergic drugs. Proc. Natl. Acad. Sci., 2007, 104, 9846.
    • (2007) Proc. Natl. Acad. Sci , vol.104 , pp. 9846
    • Marazziti, D.1    Mandillo, S.2    Di Pietro, C.3    Golini, E.4    Matteoni, R.5    Tocchini-Valentini, G.P.6
  • 113
    • 43549122572 scopus 로고    scopus 로고
    • Parkin protects against tyrosinase-mediated dopamine neurotoxicity by suppressing stress-activated protein kinase pathways
    • Hasegawa, T.; Treis, A.; Patenge, N.; Fiesel, F.C.; Springer, W.; Kahle, P.J. Parkin protects against tyrosinase-mediated dopamine neurotoxicity by suppressing stress-activated protein kinase pathways. J. Neurochem., 2008, 105, 1700.
    • (2008) J. Neurochem , vol.105 , pp. 1700
    • Hasegawa, T.1    Treis, A.2    Patenge, N.3    Fiesel, F.C.4    Springer, W.5    Kahle, P.J.6
  • 121
    • 79953231682 scopus 로고    scopus 로고
    • Parkin ubiquitinates Drp1 for proteasome-dependent degradation: Implication of dysregulated mitochondrial dynamics in Parkinson's disease
    • Wang, H.; Song, P.; Du, L. Parkin ubiquitinates Drp1 for proteasome-dependent degradation: implication of dysregulated mitochondrial dynamics in Parkinson's disease. J. Biol. Chem., 2011, 286, 11649-11658.
    • (2011) J. Biol. Chem , vol.286 , pp. 11649-11658
    • Wang, H.1    Song, P.2    Du, L.3
  • 125
    • 0036229267 scopus 로고    scopus 로고
    • Role of parkin mutations in 111 community-based patients with early-onset parkinsonism
    • Kann, M.; Jacobs, H.; Mohrmann, K. Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann. Neurol., 2002, 51, 621-625.
    • (2002) Ann. Neurol , vol.51 , pp. 621-625
    • Kann, M.1    Jacobs, H.2    Mohrmann, K.3
  • 133
    • 0037684711 scopus 로고    scopus 로고
    • Parkin mutations are rare in patients with young-onset parkinsonism in a US population
    • Chen, R.; Gosavi, N.S.; Langston, J.W.; Chan, P. Parkin mutations are rare in patients with young-onset parkinsonism in a US population. Parkinsonism Relat. Disord., 2003, 9, 309-312.
    • (2003) Parkinsonism Relat. Disord , vol.9 , pp. 309-312
    • Chen, R.1    Gosavi, N.S.2    Langston, J.W.3    Chan, P.4
  • 134
    • 0035092090 scopus 로고    scopus 로고
    • Origin of mutations in the parkin gene in Europe: Exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects
    • Periquet, M.; Lucking, C.B.; Vaughan, J.R.; Chan, P. Origin of mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects. Am. J. Hum. Genet., 2001, 68, 617-626.
    • (2001) Am. J. Hum. Genet , vol.68 , pp. 617-626
    • Periquet, M.1    Lucking, C.B.2    Vaughan, J.R.3    Chan, P.4
  • 135
    • 0031753976 scopus 로고    scopus 로고
    • Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease
    • Leroy, E.; Anastasopoulos, D.; Konitsiotis, S.; Lavedan, C.; Polymeropoulos, M.H. Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease. Hum. Genet., 1998, 103, 424-427.
    • (1998) Hum. Genet , vol.103 , pp. 424-427
    • Leroy, E.1    Anastasopoulos, D.2    Konitsiotis, S.3    Lavedan, C.4    Polymeropoulos, M.H.5
  • 137
    • 0032564235 scopus 로고    scopus 로고
    • Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group
    • Lucking, C.B.; Abbas, N.; Durr, A.; Bonifati, V.; Bonnet, A.M.; De, M.G.; Wood, N.W.; Agid, Y.; Brice, A. Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group. Lancet, 1998, 352, 1355-1356.
    • (1998) Lancet , vol.352 , pp. 1355-1356
    • Lucking, C.B.1    Abbas, N.2    Durr, A.3    Bonifati, V.4    Bonnet, A.M.5    De, M.G.6    Wood, N.W.7    Agid, Y.8    Brice, A.9
  • 138
  • 139
    • 0035845715 scopus 로고    scopus 로고
    • Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations
    • Lücking, C.B.; Bonifati, V.; Periquet, M.; Vanacore, N.; Brice, A.; Meco, G. Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations. Neurology, 2001, 57(5), 924-927.
    • (2001) Neurology , vol.57 , Issue.5 , pp. 924-927
    • Lücking, C.B.1    Bonifati, V.2    Periquet, M.3    Vanacore, N.4    Brice, A.5    Meco, G.6
  • 141
    • 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.; Genetic Etiology of Parkinson Disease Associated with Mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: A Mutation Update. Hum. Mutat., 2010, 31, 763-780.
    • (2010) Hum. Mutat , vol.31 , pp. 763-780
    • Nuytemans, K.1    Theuns, J.2    Cruts, M.3    Van Broeckhoven, C.4
  • 142
    • 30144442771 scopus 로고    scopus 로고
    • Common fragile sites, extremely large genes, neural development and cancer
    • Smith, D.I.; Zhu, Y.; McAvoy, S.; Kuhn, R.; Common fragile sites, extremely large genes, neural development and cancer. Cancer Lett., 2006, 232(1), 48-57.
    • (2006) Cancer Lett , vol.232 , Issue.1 , pp. 48-57
    • Smith, D.I.1    Zhu, Y.2    McAvoy, S.3    Kuhn, R.4
  • 143
    • 0042522482 scopus 로고    scopus 로고
    • Characterization of FRA6E and its potential role in autosomal recessive juvenile parkinsonism and ovarian cancer
    • Denison, S.R.; Callahan, G.; Becker, N.A.; Phillips, L.A.; Smith, D.I. Characterization of FRA6E and its potential role in autosomal recessive juvenile parkinsonism and ovarian cancer. Genes Chromosomes Cancer, 2003, 38(1), 40-52.
    • (2003) Genes Chromosomes Cancer , vol.38 , Issue.1 , pp. 40-52
    • Denison, S.R.1    Callahan, G.2    Becker, N.A.3    Phillips, L.A.4    Smith, D.I.5
  • 145
    • 77954386512 scopus 로고    scopus 로고
    • Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism
    • Guo, J.F.; Zhang, X.W.; Nie, L.L.; Zhang, H.N.; Liao, B.; Li, J.; Wang, L.; Yan, X.X.; Tang, B.S. Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism. J. Neurol., 2010, 257, 1170-1175.
    • (2010) J. Neurol , vol.257 , pp. 1170-1175
    • Guo, J.F.1    Zhang, X.W.2    Nie, L.L.3    Zhang, H.N.4    Liao, B.5    Li, J.6    Wang, L.7    Yan, X.X.8    Tang, B.S.9
  • 146
    • 68249129262 scopus 로고    scopus 로고
    • Parkinson Study Group-PROGENI Investigators. Parkinson Study Group-PROGENI Investigators Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations
    • Pankratz, N.; Kissell, D.K.; Pauciulo, M.W.; Halter, C.A.; Rudolph, A.; Pfeiffer, R.F.; Marder, K.S.; Foroud, T.; Nichols, W.C., Parkinson Study Group-PROGENI Investigators. Parkinson Study Group-PROGENI Investigators Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations. Neurology, 2009, 73, 279-286.
    • (2009) Neurology , vol.73 , pp. 279-286
    • Pankratz, N.1    Kissell, D.K.2    Pauciulo, M.W.3    Halter, C.A.4    Rudolph, A.5    Pfeiffer, R.F.6    Marder, K.S.7    Foroud, T.8    Nichols, W.C.9
  • 148
    • 0036460167 scopus 로고    scopus 로고
    • Dopamine agonists and neuroprotection in Parkinson's disease
    • Schapira, A.H.; Dopamine agonists and neuroprotection in Parkinson's disease. Eur. J. Neurol., 2002, s3, 7-14.
    • (2002) Eur. J. Neurol , vol.S3 , pp. 7-14
    • Schapira, A.H.1
  • 151
    • 24944506425 scopus 로고    scopus 로고
    • Prevalence of parkin gene mutations and variations in idiopathic Parkinson's disease
    • Sinha, R.; Racetteb, B.; Perlmutterb, J.S.; Parsian, A. Prevalence of parkin gene mutations and variations in idiopathic Parkinson's disease. Parkinsonism Relat. Disord., 2005, 11, 341-347.
    • (2005) Parkinsonism Relat. Disord , vol.11 , pp. 341-347
    • Sinha, R.1    Racetteb, B.2    Perlmutterb, J.S.3    Parsian, A.4
  • 155
    • 18044402592 scopus 로고    scopus 로고
    • The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease
    • Italian PD Genetics Study Group; French PD Genetics Study Group; European Consortium on Genetic Susceptibility in PD
    • Bonifati, V.; De Michele, G.; Lücking, C.B.; Dürr, A.; Fabrizio, E.; Ambrosio, G.; Vanacore, N.; De Mari, M.; Marconi, R.; Capus, L.; Breteler, M.M.; Gasser, T.; Oostra, B.; Wood, N.; Agid, Y.; Filla, A.; Meco, G.; Brice, A.; Italian PD Genetics Study Group; French PD Genetics Study Group; European Consortium on Genetic Susceptibility in PD. The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. Neurol. Sci., 2001, 22(1), 51-52.
    • (2001) Neurol. Sci , vol.22 , Issue.1 , pp. 51-52
    • Bonifati, V.1    De Michele, G.2    Lücking, C.B.3    Dürr, A.4    Fabrizio, E.5    Ambrosio, G.6    Vanacore, N.7    De Mari, M.8    Marconi, R.9    Capus, L.10    Breteler, M.M.11    Gasser, T.12    Oostra, B.13    Wood, N.14    Agid, Y.15    Filla, A.16    Meco, G.17    Brice, A.18
  • 157
    • 33646138464 scopus 로고    scopus 로고
    • Detection of compound heterozygous deletions in the parkin gene of fibroblasts in patients with autosomal recessive hereditary parkinsonism (PARK2)
    • Nakaso, K.; Adachi, Y.; Yasui, K.; Sakuma, K.; Nakashima, K. Detection of compound heterozygous deletions in the parkin gene of fibroblasts in patients with autosomal recessive hereditary parkinsonism (PARK2). Neurosci. Lett., 2006, 400(1-2), 44-47.
    • (2006) Neurosci. Lett , vol.400 , Issue.1-2 , pp. 44-47
    • Nakaso, K.1    Adachi, Y.2    Yasui, K.3    Sakuma, K.4    Nakashima, K.5
  • 159
    • 77953553525 scopus 로고    scopus 로고
    • The familial Parkinson disease gene PARK2 is a multisite tumor suppressor on chromosome 6q25.2-27 that regulates cyclin E
    • Veeriah, S.; Morris, L.; Solit, D.; Chan, T.A. The familial Parkinson disease gene PARK2 is a multisite tumor suppressor on chromosome 6q25.2-27 that regulates cyclin E. Cell. Cycle., 2010, 9(8), 1451-1452.
    • (2010) Cell. Cycle , vol.9 , Issue.8 , pp. 1451-1452
    • Veeriah, S.1    Morris, L.2    Solit, D.3    Chan, T.A.4
  • 160
    • 0033807432 scopus 로고    scopus 로고
    • Polymorphisms of the parkin gene in sporadic Parkinson's disease among Chinese in Taiwan
    • Hu, C.J.; Sung, S.M.; Liu, H.C.; Lee, C.C.; Tsai, C.H.; Chang, J.G. Polymorphisms of the parkin gene in sporadic Parkinson's disease among Chinese in Taiwan. Eur. Neurol., 2000, 44(2), 90-93.
    • (2000) Eur. Neurol , vol.44 , Issue.2 , pp. 90-93
    • Hu, C.J.1    Sung, S.M.2    Liu, H.C.3    Lee, C.C.4    Tsai, C.H.5    Chang, J.G.6
  • 161
    • 0033539005 scopus 로고    scopus 로고
    • Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease
    • Satoh, J.; Kuroda, Y. Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease. NeuroReport., 1999, 10(13), 2735-2739.
    • (1999) NeuroReport , vol.10 , Issue.13 , pp. 2735-2739
    • Satoh, J.1    Kuroda, Y.2
  • 169
    • 0242363670 scopus 로고    scopus 로고
    • Molecular pathways of neurodegeneration in Parkinson's disease
    • Dawson, T.M.; Dawson, V.L. Molecular pathways of neurodegeneration in Parkinson's disease. Science, 2003, 302, 819-822.
    • (2003) Science , vol.302 , pp. 819-822
    • Dawson, T.M.1    Dawson, V.L.2
  • 170
    • 11444265305 scopus 로고    scopus 로고
    • Dopaminergic dysfunction in unrelated.; asymptomatic carriers of a single parkin mutation
    • Khan, N.L.; Scherfler, C.; Graham, E. Dopaminergic dysfunction in unrelated.; asymptomatic carriers of a single parkin mutation. Neurology, 2005, 64, 134-136.
    • (2005) Neurology , vol.64 , pp. 134-136
    • Khan, N.L.1    Scherfler, C.2    Graham, E.3
  • 173
    • 0035959931 scopus 로고    scopus 로고
    • Parkin and the molecular pathways of Parkinson's disease
    • Giasson, B.I.; Lee, V.M. Parkin and the molecular pathways of Parkinson's disease. Neuron, 2001, 31(6), 885-888.
    • (2001) Neuron , vol.31 , Issue.6 , pp. 885-888
    • Giasson, B.I.1    Lee, V.M.2
  • 174
    • 0034326934 scopus 로고    scopus 로고
    • Does failure of parkin-mediated ubiquitination cause juvenile parkinsonism?
    • Kahle, P.J.; Leimer, U.; Haass, C. Does failure of parkin-mediated ubiquitination cause juvenile parkinsonism? Trends Biochem. Sci., 2000, 25(11), 524-527.
    • (2000) Trends Biochem. Sci , vol.25 , Issue.11 , pp. 524-527
    • Kahle, P.J.1    Leimer, U.2    Haass, C.3
  • 177
    • 27744552014 scopus 로고    scopus 로고
    • Geographic and ethnic differences in frequencies of two polymorphisms (D/N394 and L/I272) of the parkin gene in sporadic Parkinson's disease
    • Li, X.; Kitami, T.; Wang, M.; Mizuno, Y.; Hattori, N. Geographic and ethnic differences in frequencies of two polymorphisms (D/N394 and L/I272) of the parkin gene in sporadic Parkinson's disease. Parkinsonism Relat. Disord., 2005, 11, 485-491.
    • (2005) Parkinsonism Relat. Disord , vol.11 , pp. 485-491
    • Li, X.1    Kitami, T.2    Wang, M.3    Mizuno, Y.4    Hattori, N.5
  • 179
    • 58349114656 scopus 로고    scopus 로고
    • Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson's disease
    • Bardien, S.; Keyser, R.; Yako, Y.; Lombard, D.; Carr, J. Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson's disease. Parkinsonism Relat. Disord., 2009, 15, 116-121.
    • (2009) Parkinsonism Relat. Disord , vol.15 , pp. 116-121
    • Bardien, S.1    Keyser, R.2    Yako, Y.3    Lombard, D.4    Carr, J.5
  • 180
    • 0034776095 scopus 로고    scopus 로고
    • Parkin ubiquitinates the alpha-synuclein-interacting protein.; synphilin-1: Implications for Lewy-body formation in Parkinson disease
    • Chung, K.K.;Zhang, Y.; Lim, K.L.; Tanaka, Y.; Huang, H.; Gao, J.; Ross, C.A.; Dawson, V.L.; Dawson, T.M. Parkin ubiquitinates the alpha-synuclein-interacting protein.; synphilin-1: implications for Lewy-body formation in Parkinson disease. Nat. Med., 2001, 7, 1144-1150.
    • (2001) Nat. Med , vol.7 , pp. 1144-1150
    • Chung, K.K.1    Zhang, Y.2    Lim, K.L.3    Tanaka, Y.4    Huang, H.5    Gao, J.6    Ross, C.A.7    Dawson, V.L.8    Dawson, T.M.9
  • 181
    • 0037672207 scopus 로고    scopus 로고
    • Neurodegeneration: How does parkin prevent Parkinson's disease?
    • Cookson, M.R. Neurodegeneration: how does parkin prevent Parkinson's disease? Curr Biol., 2003, 13(13), 522-524.
    • (2003) Curr Biol , vol.13 , Issue.13 , pp. 522-524
    • Cookson, M.R.1
  • 182
    • 0032476121 scopus 로고    scopus 로고
    • Differential expression of the parkin gene in the human brain and peripheral leukocytes
    • Sunada, Y.; Saito, F.; Matsumura, K.; Shimizu, T. Differential expression of the parkin gene in the human brain and peripheral leukocytes. Neurosci. Lett., 1998, 254(3), 180-182.
    • (1998) Neurosci. Lett , vol.254 , Issue.3 , pp. 180-182
    • Sunada, Y.1    Saito, F.2    Matsumura, K.3    Shimizu, T.4
  • 184
    • 70350689923 scopus 로고    scopus 로고
    • Parkin selectively alters the intrinsic threshold for mitochondrial cytochrome c release
    • Berger, A.K.; Cortese, G.P.; Amodeo, K.D.; Weihofen, A.; Letai, A.; LaVoie, M.J. Parkin selectively alters the intrinsic threshold for mitochondrial cytochrome c release. Hum. Mol. Genet., 2009, 18(22), 4317-4328.
    • (2009) Hum. Mol. Genet , vol.18 , Issue.22 , pp. 4317-4328
    • Berger, A.K.1    Cortese, G.P.2    Amodeo, K.D.3    Weihofen, A.4    Letai, A.5    LaVoie, M.J.6
  • 185
    • 67650243261 scopus 로고    scopus 로고
    • Parkin-induced mitophagy in the pathogenesis of Parkinson disease
    • Narendra, D.; Tanaka, A.; Suen, D.F.; Youle RJ Parkin-induced mitophagy in the pathogenesis of Parkinson disease. Autophagy., 2009, 5(5), 706-708.
    • (2009) Autophagy , vol.5 , Issue.5 , pp. 706-708
    • Narendra, D.1    Tanaka, A.2    Suen, D.F.3    Youle, R.J.4
  • 188
    • 84856463380 scopus 로고    scopus 로고
    • Autosomal recessive parkinsonism
    • Bonifati, V. Autosomal recessive parkinsonism. Parkinsonism Relat. Disord., 2012, 18S1, 4-6.
    • (2012) Parkinsonism Relat. Disord , vol.18 S1 , pp. 4-6
    • Bonifati, V.1
  • 189
    • 0842287328 scopus 로고    scopus 로고
    • Parkin mutation associated parkinsonism and cognitive decline.; comparison to early onset Parkinson's disease
    • Benbunan, B.R.; Korczyn, A.D.; Giladi, N. Parkin mutation associated parkinsonism and cognitive decline.; comparison to early onset Parkinson's disease. J. Neural. Transm., 2004, 111(1), 47-57.
    • (2004) J. Neural. Transm , vol.111 , Issue.1 , pp. 47-57
    • Benbunan, B.R.1    Korczyn, A.D.2    Giladi, N.3
  • 190
    • 0032716207 scopus 로고    scopus 로고
    • Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: Mutation of Parkin gene
    • Nisipeanu, P.; Inzelberg, R.; Blumen, S.C.; Carasso, R.L.; Hattori, N.; Matsumine, H.; Mizuno, Y. Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: mutation of Parkin gene. Neurology, 1999, 53(7), 1602-1604.
    • (1999) Neurology , vol.53 , Issue.7 , pp. 1602-1604
    • Nisipeanu, P.1    Inzelberg, R.2    Blumen, S.C.3    Carasso, R.L.4    Hattori, N.5    Matsumine, H.6    Mizuno, Y.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.