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Volumn 12, Issue 4, 1999, Pages 433-439

Molecular pathogenesis of movement disorders: Are protein aggregates a common link in neuronal degeneration?

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; POLYGLUTAMINE; PROTEIN;

EID: 0033372838     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199908000-00010     Document Type: Review
Times cited : (34)

References (46)
  • 1
    • 0030744876 scopus 로고    scopus 로고
    • Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
    • Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997; 276:2045-2047.
    • (1997) Science , vol.276 , pp. 2045-2047
    • Polymeropoulos, M.H.1    Lavedan, C.2    Leroy, E.3    Ide, S.E.4    Dehejia, A.5    Dutra, A.6
  • 3
    • 0030841343 scopus 로고    scopus 로고
    • Conformational disease
    • Carrell RW, Lomas DA. Conformational disease. Lancet 1997; 350:134-138.
    • (1997) Lancet , vol.350 , pp. 134-138
    • Carrell, R.W.1    Lomas, D.A.2
  • 4
    • 0031049889 scopus 로고    scopus 로고
    • Dopaminergic function in familial Parkinson's disease: A clinical and 18F-dopa positron emission tomography study
    • Piccini P, Morrish PK, Turjanski N, Sawle GV, Burn DJ, Weeks RA, et al. Dopaminergic function in familial Parkinson's disease: a clinical and 18F-dopa positron emission tomography study. Ann Neurol 1997; 41:222-229.
    • (1997) Ann Neurol , vol.41 , pp. 222-229
    • Piccini, P.1    Morrish, P.K.2    Turjanski, N.3    Sawle, G.V.4    Burn, D.J.5    Weeks, R.A.6
  • 6
    • 0032913951 scopus 로고    scopus 로고
    • The role of inheritance in sporadic Parkinson's disease: Evidence from a longitudinal study of dopaminergic function in twins
    • Piccini P, Burn DJ, Ceravolo R, Maraganore D, Brooks DJ. The role of inheritance in sporadic Parkinson's disease: evidence from a longitudinal study of dopaminergic function in twins. Ann Neurol 1999; 45:577-582. A longitudinal twin study of dopaminergic function using positron emission tomography is presented. The study shows high concordance for a decline of dopaminergic function in monozygotic twins, suggesting a substantial role for inheritance in idiopathic Parkinson's disease.
    • (1999) Ann Neurol , vol.45 , pp. 577-582
    • Piccini, P.1    Burn, D.J.2    Ceravolo, R.3    Maraganore, D.4    Brooks, D.J.5
  • 7
    • 0031990490 scopus 로고    scopus 로고
    • Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease
    • Krüger R, Kuhn W, Müller T, Woitalla D, Graeber M, Kosel S, et al. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nature Genet 1998; 18:106-108. The authors identified an alanine to threonine mutation at residue 30 as a second mutation in the α-synuclein gene to cause Parkinson's disease in a German pedigree with early-onset.
    • (1998) Nature Genet , vol.18 , pp. 106-108
    • Krüger, R.1    Kuhn, W.2    Müller, T.3    Woitalla, D.4    Graeber, M.5    Kosel, S.6
  • 10
    • 15444338952 scopus 로고    scopus 로고
    • The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases
    • Vaughan J, Durr A, Tassin J, Bereznai B, Gasser T, Bonifati V, et al. The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. Ann Neurol 1998; 44:270-273.
    • (1998) Ann Neurol , vol.44 , pp. 270-273
    • Vaughan, J.1    Durr, A.2    Tassin, J.3    Bereznai, B.4    Gasser, T.5    Bonifati, V.6
  • 12
    • 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, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998; 392:605-608. The authors report that deletion mutations in the parkin gene underlie AR-JP.
    • (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
  • 13
    • 0345490853 scopus 로고    scopus 로고
    • A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe
    • Abbas N, Lucking CB, Ricard S, Durr A, Bonifati V, De Michele G, et al. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. Hum Mol Genet 1999; 8:567-574. This study had shown that a wide variety of different mutations in the parkin gene are a common cause of autosomal-recessive parkinsonism in Europe and that different types of point mutations seem to be more frequently responsible for the disease phenotype than are deletions.
    • (1999) Hum Mol Genet , vol.8 , pp. 567-574
    • Abbas, N.1    Lucking, C.B.2    Ricard, S.3    Durr, A.4    Bonifati, V.5    De Michele, G.6
  • 14
    • 0032957883 scopus 로고    scopus 로고
    • Immunohistochemical and subcellular localization of Parkin protein: Absence of protein in autosomal recessive juvenile parkinsonism patients
    • Shimura H, Hattori N, Kubo S, Yoshikawa M, Kitada T, Matsumine H, et al. Immunohistochemical and subcellular localization of Parkin protein: absence of protein in autosomal recessive juvenile parkinsonism patients. Ann Neurol 1999; 45:668-672. This is a report on the cellular and subcellufar localization of the Parkin protein in patients with idiopathic Parkinson's disease or AR-JP and in control individuals. Parkin protein is present in the melanin-containing neurones of substantia nigra, but cannot be detected in any regions of AR-JP brains, suggesting that the loss of function of Parkin protein is the primary cause of nigral degeneration in this form of familial Parkinson's disease.
    • (1999) Ann Neurol , vol.45 , pp. 668-672
    • Shimura, H.1    Hattori, N.2    Kubo, S.3    Yoshikawa, M.4    Kitada, T.5    Matsumine, H.6
  • 15
    • 0031951197 scopus 로고    scopus 로고
    • A susceptibility locus for Parkinson's disease maps to chromosome 2p13
    • Gasser T, Muller-Myhsok B, Wszolek ZK, Oehlmann R, Calne DB, Bonifati V, et al. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat Genet 1998; 18:262-265. This paper reports detection for a third locus of Parkinson's disease (Park 3) on chromosome 2p13. The low penetrance of this locus (approximately 40%) is not only compatible with a possible role in familial, but also in sporadic Parkinson's disease, and may represent a susceptibility gene.
    • (1998) Nat Genet , vol.18 , pp. 262-265
    • Gasser, T.1    Muller-Myhsok, B.2    Wszolek, Z.K.3    Oehlmann, R.4    Calne, D.B.5    Bonifati, V.6
  • 16
    • 0029073383 scopus 로고
    • Genetic dissection of Alzheimer's disease, a heterogenous disorder
    • Schellenberg GD. Genetic dissection of Alzheimer's disease, a heterogenous disorder. Proc Natl Acad Sci USA 1995; 92:8552-8559.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 8552-8559
    • Schellenberg, G.D.1
  • 17
    • 0342950666 scopus 로고    scopus 로고
    • Increased susceptibility to sporadic Parkinson's disease by a certain combined alpha-synuclein/apolipoprotein E genotype
    • Krüger R, Vieira-Saecker AM, Kuhn W, Berg D, Müller T, Kuhnl N, et al. Increased susceptibility to sporadic Parkinson's disease by a certain combined alpha-synuclein/apolipoprotein E genotype. Ann Neurol 1999; 45:611-617. This study shows a polymorphism in the promoter region of the α-synuclein gene and that apolipoprotein ε4 is a risk factor for developing idiopathic Parkinson's disease early in life. The genotype combination of allele 1 of the promoter region and apolipoprotein ε4 increases the relative risk for developing Parkinson's disease during life by 12.8-fold.
    • (1999) Ann Neurol , vol.45 , pp. 611-617
    • Krüger, R.1    Vieira-Saecker, A.M.2    Kuhn, W.3    Berg, D.4    Müller, T.5    Kuhnl, N.6
  • 18
    • 0031472072 scopus 로고    scopus 로고
    • The association between polymorphisms in the cytochrome P-450 2D6 gene and Parkinson's disease: A case-control study and meta-analysis
    • McCann SJ, Pond SM, James KM, Le Couteur DG. The association between polymorphisms in the cytochrome P-450 2D6 gene and Parkinson's disease: a case-control study and meta-analysis. J Neurol Sci 1997; 153:50-53.
    • (1997) J Neurol Sci , vol.153 , pp. 50-53
    • McCann, S.J.1    Pond, S.M.2    James, K.M.3    Le Couteur, D.G.4
  • 19
    • 0030692086 scopus 로고    scopus 로고
    • Association of slow acetylator genotype for N-acetyltransferase 2 with familial Parkinson's disease
    • Bandmann O, Vaughan J, Holmans P, Marsden CD, Wood NW. Association of slow acetylator genotype for N-acetyltransferase 2 with familial Parkinson's disease. Lancet 1997; 350:1136-1139.
    • (1997) Lancet , vol.350 , pp. 1136-1139
    • Bandmann, O.1    Vaughan, J.2    Holmans, P.3    Marsden, C.D.4    Wood, N.W.5
  • 20
    • 0032564134 scopus 로고    scopus 로고
    • Parkinson's disease, pesticides, and glutathione transferase polymorphisms
    • Menegon A, Board PG, Blackburn AC, Mellick GD, Le Couteur DG. Parkinson's disease, pesticides, and glutathione transferase polymorphisms. Lancet 1998; 352:1344-1346. This study may be the first to seek, and find, a rational association between an exposure and a genotype that could confer vulnerability to that factor. It therefore may help explain both the familial clustering of Parkinson's disease and the pesticide-risk data.
    • (1998) Lancet , vol.352 , pp. 1344-1346
    • Menegon, A.1    Board, P.G.2    Blackburn, A.C.3    Mellick, G.D.4    Le Couteur, D.G.5
  • 21
    • 0023722437 scopus 로고
    • Synuclein: A neuron-specific protein localized to the nucleus and presynaptic nerve terminal
    • Maroteaux L, Campanelli JT, Scheller RH. 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
  • 22
    • 0031696092 scopus 로고    scopus 로고
    • Structure/function in neuroprotection and apoptosis
    • Borden KL. Structure/function in neuroprotection and apoptosis. Ann Neurol 1998, 44 (Suppl. 1):S65-S71. An excellent review about protein conformational issues in neurodegeneration is presented.
    • (1998) Ann Neurol , vol.44 , Issue.SUPPL. 1
    • Borden, K.L.1
  • 23
    • 0027489773 scopus 로고
    • Molecular cloning of cDNA encoding an unrecognized component of amyloid in Alzheimer disease
    • Ueda K, Fukushima H, Masliah E, Xia Y, Iwai A, Yoshimoto M, et al. Molecular cloning of cDNA encoding an unrecognized component of amyloid in Alzheimer disease. Proc Natl Acad Sci U S A 1993; 90:11282-11286.
    • (1993) Proc Natl Acad Sci U S A , vol.90 , pp. 11282-11286
    • Ueda, K.1    Fukushima, H.2    Masliah, E.3    Xia, Y.4    Iwai, A.5    Yoshimoto, M.6
  • 24
    • 0029820770 scopus 로고    scopus 로고
    • Characterization of the precursor protein of the non-A beta component of senile plaques (NACP) in the human central nervous system
    • Irizarry MC, Kim TW, McNamara M, Tanzi RE, George JM, Clayton DF, Hyman BT. Characterization of the precursor protein of the non-A beta component of senile plaques (NACP) in the human central nervous system. J Neuropathol Exp Neurol 1996; 55:889-895.
    • (1996) J Neuropathol Exp Neurol , vol.55 , pp. 889-895
    • Irizarry, M.C.1    Kim, T.W.2    McNamara, M.3    Tanzi, R.E.4    George, J.M.5    Clayton, D.F.6    Hyman, B.T.7
  • 25
    • 0029257497 scopus 로고
    • The core Alzheimer's peptide NAC forms amyloid fibrils which seed and are seeded by beta-amyloid: Is NAC a common trigger or target in neurodegenerative disease?
    • Han H, Weinreb PH, Lansbury PT Jr. The core Alzheimer's peptide NAC forms amyloid fibrils which seed and are seeded by beta-amyloid: is NAC a common trigger or target in neurodegenerative disease? Chem Biol 1995; 2:163-169.
    • (1995) Chem Biol , vol.2 , pp. 163-169
    • Han, H.1    Weinreb, P.H.2    Lansbury P.T., Jr.3
  • 27
    • 0032568534 scopus 로고    scopus 로고
    • alpha-synuclein in filamentous inclusions of Lewy bodies from Parkinson's disease and dementia with lewy bodies
    • Spillantini MG, Crowther RA, Jakes R, Hasegawa M, Goedert M. alpha-Synuclein in filamentous inclusions of Lewy bodies from Parkinson's disease and dementia with lewy bodies. Proc Natl Acad Sci USA 1998; 95:6469-6473.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 6469-6473
    • Spillantini, M.G.1    Crowther, R.A.2    Jakes, R.3    Hasegawa, M.4    Goedert, M.5
  • 28
    • 0031944830 scopus 로고    scopus 로고
    • Nigral and cortical Lewy bodies and dystrophic nigral neurites in Parkinson's disease and cortical Lewy body disease contain alpha-synuclein immunoreactivity
    • Irizarry MC, Growdon W, Gomez-Isla T, Newell K, George JM, Clayton DF, Hyman BT. Nigral and cortical Lewy bodies and dystrophic nigral neurites in Parkinson's disease and cortical Lewy body disease contain alpha-synuclein immunoreactivity. J Neuropathol Exp Neurol 1998; 57:334-337.
    • (1998) J Neuropathol Exp Neurol , vol.57 , pp. 334-337
    • Irizarry, M.C.1    Growdon, W.2    Gomez-Isla, T.3    Newell, K.4    George, J.M.5    Clayton, D.F.6    Hyman, B.T.7
  • 30
    • 0029904487 scopus 로고    scopus 로고
    • NACP, a protein implicated in Alzheimer's disease and learning, is natively unfolded
    • Weinreb PH, Zhen W, Poon AW, Conway KA, Lansbury PT Jr. NACP, a protein implicated in Alzheimer's disease and learning, is natively unfolded. Biochemistry 1996; 35:13709-13715.
    • (1996) Biochemistry , vol.35 , pp. 13709-13715
    • Weinreb, P.H.1    Zhen, W.2    Poon, A.W.3    Conway, K.A.4    Lansbury P.T., Jr.5
  • 32
    • 0031787871 scopus 로고    scopus 로고
    • Accelerated in vitro fibril formation by a mutant alpha-synuclein linked to early-onset Parkinson disease
    • Conway KA, Harper JD, Lansbury PT. Accelerated in vitro fibril formation by a mutant alpha-synuclein linked to early-onset Parkinson disease. Nature Med 1998; 4:1318-1320. This study demonstrates that both mutant forms of α-synuclein (A53T and A3OP) may cause early-onset Parkinson's disease by accelerating α-synuclein fibril formation, which may be an early step in Lewy body degeneration.
    • (1998) Nature Med , vol.4 , pp. 1318-1320
    • Conway, K.A.1    Harper, J.D.2    Lansbury, P.T.3
  • 33
    • 0032485258 scopus 로고    scopus 로고
    • Chaperoning brain diseases
    • Welch WJ, Gambetti P. Chaperoning brain diseases. Nature 1998; 392:23-24.
    • (1998) Nature , vol.392 , pp. 23-24
    • Welch, W.J.1    Gambetti, P.2
  • 34
    • 0029125857 scopus 로고
    • Aging, energy and oxidative stress in neurodegenerative diseases
    • Beal MF. Aging, energy and oxidative stress in neurodegenerative diseases. Ann Neurol 1995; 38:357-366.
    • (1995) Ann Neurol , vol.38 , pp. 357-366
    • Beal, M.F.1
  • 38
    • 0024843373 scopus 로고
    • Glial cytoplasmic inclusions in the CNS of patients with multiple system atrophy (striatonigral degeneration, olivoponto-cerebellar atrophy and Shy-Drager syndrome)
    • Papp MI, Kahn JE, Lantos PL. Glial cytoplasmic inclusions in the CNS of patients with multiple system atrophy (striatonigral degeneration, olivoponto-cerebellar atrophy and Shy-Drager syndrome). J Neurol Sci 1989; 94:79-100.
    • (1989) J Neurol Sci , vol.94 , pp. 79-100
    • Papp, M.I.1    Kahn, J.E.2    Lantos, P.L.3
  • 40
    • 0031713491 scopus 로고    scopus 로고
    • Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble alpha-synuclein
    • Tu PH, Galvin JE, Baba M, Giasson B, Tomita T, Leight S, et al. Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble alpha-synuclein. Ann Neurol 1998; 44:415-422.
    • (1998) Ann Neurol , vol.44 , pp. 415-422
    • Tu, P.H.1    Galvin, J.E.2    Baba, M.3    Giasson, B.4    Tomita, T.5    Leight, S.6
  • 41
    • 0031659271 scopus 로고    scopus 로고
    • Transgenic mice in the study of polyglutamine repeat expansion diseases
    • Bates GP, Mangiarini L, Davies STW. Transgenic mice in the study of polyglutamine repeat expansion diseases. Brain Path 1998; 8:699-714. This is a recent and excellent review about transgenic mouse models of polyglutamine repeat expansion diseases.
    • (1998) Brain Path , vol.8 , pp. 699-714
    • Bates, G.P.1    Mangiarini, L.2    Davies, S.T.W.3
  • 42
    • 0031838352 scopus 로고    scopus 로고
    • Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1
    • Cummings CJ, Mancini MA, Antalffy B, DeFranco DB, Orr HT, Zoghbi HY. Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nature Genet 1998; 19:148-154. This paper suggests that protein misfolding is responsible for the nuclear aggregates seen in SCA1, and that overexpression of a DnaJ (Hsp40) chaperone promotes the recognition of a misfolded polyglutamine repeat protein, allowing its refolding and/or ubiquitin-dependent degradation.
    • (1998) Nature Genet , vol.19 , pp. 148-154
    • Cummings, C.J.1    Mancini, M.A.2    Antalffy, B.3    DeFranco, D.B.4    Orr, H.T.5    Zoghbi, H.Y.6
  • 43
    • 0032475941 scopus 로고    scopus 로고
    • Ataxin-1 localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic mice
    • Klement IA, Skinner PJ, Kaytor MD, Yi H, Hersch SM, Clark HB, et al. Ataxin-1 localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 1998; 95:41-53. This is the first study to show in transgenic animals that the import of mutant ataxin-1 into the nucleus, but not the formation of detectable intranuclear inclusions, is required for disease pathogenesis of polyglutamine repeat disorders.
    • (1998) Cell , vol.95 , pp. 41-53
    • Klement, I.A.1    Skinner, P.J.2    Kaytor, M.D.3    Yi, H.4    Hersch, S.M.5    Clark, H.B.6
  • 44
    • 0032475931 scopus 로고    scopus 로고
    • Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions
    • Saudou F, Finkbeiner S, Devys D, Greenberg ME. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 1998; 95:55-66. This was the first study to show that nuclear inclusions and ubiquination do not directly compromise neuronal viability, but may provide a defence mechanism.
    • (1998) Cell , vol.95 , pp. 55-66
    • Saudou, F.1    Finkbeiner, S.2    Devys, D.3    Greenberg, M.E.4
  • 45
    • 0032918137 scopus 로고    scopus 로고
    • Caspases as treatment targets in stroke and neurodegenerative diseases
    • Schulz JB, Weller M, Moskowitz MA. Caspases as treatment targets in stroke and neurodegenerative diseases. Ann Neurol 1999; 45:421-429. A review on the evidence and potential importance of caspase inhibition in acute and chronic neurodegenerative diseases is presented.
    • (1999) Ann Neurol , vol.45 , pp. 421-429
    • Schulz, J.B.1    Weller, M.2    Moskowitz, M.A.3
  • 46
    • 0033103523 scopus 로고    scopus 로고
    • Caspase-8 is required for cell death induced by expanded polyglutamine repeats
    • Sánchez I, Xu L-J, Juo P, Katizaka A, Blenis J, Yuan J. Caspase-8 is required for cell death induced by expanded polyglutamine repeats. Neuron 1999; 22:623-633. An exciting paper showing that caspase-8 is required for the death of primary rat neurons by an expanded polyglutamine repeat and demonstrating the presence of activated caspase-8 in the insoluble fraction of affected brain regions from Huntington's disease patients.
    • (1999) Neuron , vol.22 , pp. 623-633
    • Sánchez, I.1    Xu, L.-J.2    Juo, P.3    Katizaka, A.4    Blenis, J.5    Yuan, J.6


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