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Volumn 1, Issue 3, 1998, Pages 197-204

Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease

Author keywords

Genetic heterogeneity; Mitochondrial haplogroups; NADH dehydrogenase; Susceptibility genes

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0032008669     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100480050029     Document Type: Article
Times cited : (75)

References (49)
  • 3
    • 0025939232 scopus 로고
    • Accuracy of clinical diagnosis in parkinsonism - A prospective study
    • Rajput AH, Rozdilsky B, Rajput A (1991) Accuracy of clinical diagnosis in parkinsonism - a prospective study. Can J Neurol Sci 18:275-278
    • (1991) Can J Neurol Sci , vol.18 , pp. 275-278
    • Rajput, A.H.1    Rozdilsky, B.2    Rajput, A.3
  • 4
    • 0026514953 scopus 로고
    • Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinicopathological study of 100 cases
    • Hughes AJ, Daniel SE, Kilford L, Lees AJ (1992) Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinicopathological study of 100 cases. J Neurol Neurosurg Psychiatry 55:181-184
    • (1992) J Neurol Neurosurg Psychiatry , vol.55 , pp. 181-184
    • Hughes, A.J.1    Daniel, S.E.2    Kilford, L.3    Lees, A.J.4
  • 5
    • 0023898945 scopus 로고
    • The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease
    • Gibb WRG, Lees AJ (1988) The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease. J Neurol Neurosurg Psychiatry 51:745-752
    • (1988) J Neurol Neurosurg Psychiatry , vol.51 , pp. 745-752
    • Gibb, W.R.G.1    Lees, A.J.2
  • 11
    • 0020680904 scopus 로고
    • Chronic parkinsonism in humans due to a product of meperidine-analog synthesis
    • Langston JW, Ballard P, Tetrud JW, Irwin I (1983) Chronic parkinsonism in humans due to a product of meperidine-analog synthesis. Science 219:979-980
    • (1983) Science , vol.219 , pp. 979-980
    • Langston, J.W.1    Ballard, P.2    Tetrud, J.W.3    Irwin, I.4
  • 13
    • 0026624980 scopus 로고
    • Diseases of the mitochondrial DNA
    • Wallace DC (1992) Diseases of the mitochondrial DNA. Annu Rev Biochem 61:1175-1212
    • (1992) Annu Rev Biochem , vol.61 , pp. 1175-1212
    • Wallace, D.C.1
  • 18
    • 0028274216 scopus 로고
    • Evidence for mitochondrial dysfunction in Parkinson's disease - A critical appraisal
    • Schapira AHV (1994) Evidence for mitochondrial dysfunction in Parkinson's disease - a critical appraisal. Mov Disord 9:125-138
    • (1994) Mov Disord , vol.9 , pp. 125-138
    • Schapira, A.H.V.1
  • 19
    • 0029091194 scopus 로고
    • A mitochondrial DNA clone is associated with increased risk for Alzheimer disease
    • Hutchin T, Cortopassi G (1995) A mitochondrial DNA clone is associated with increased risk for Alzheimer disease. Proc Natl Acad Sci USA 92:6892-6895
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 6892-6895
    • Hutchin, T.1    Cortopassi, G.2
  • 22
    • 0030641754 scopus 로고    scopus 로고
    • Understanding Parkinson's disease
    • Youdim MBH, Riederer P (1997) Understanding Parkinson's disease. Sci Am 276:52-59
    • (1997) Sci Am , vol.276 , pp. 52-59
    • Youdim, M.B.H.1    Riederer, P.2
  • 24
    • 0028854722 scopus 로고
    • Point mutations of mitochondrial genome in Parkinson's disease
    • Ikebe S, Tanaka M, Ozawa T (1995) Point mutations of mitochondrial genome in Parkinson's disease. Mol Brain Res 28:281-295
    • (1995) Mol Brain Res , vol.28 , pp. 281-295
    • Ikebe, S.1    Tanaka, M.2    Ozawa, T.3
  • 27
    • 0028358132 scopus 로고
    • Use of neuropathological tissue for molecular genetic studies: Parameters affecting DNA extraction and polymerase chain reaction
    • Kösel S, Graeber MB (1994) Use of neuropathological tissue for molecular genetic studies: parameters affecting DNA extraction and polymerase chain reaction. Acta Neuropathol 88:19-25
    • (1994) Acta Neuropathol , vol.88 , pp. 19-25
    • Kösel, S.1    Graeber, M.B.2
  • 29
    • 0030813676 scopus 로고    scopus 로고
    • Population genetics and disease susceptibility: Characterization of central European haplogroups by mtDNA gene mutations, correlation with D-loop variants and association with disease
    • Hofmann S, Jaksch M, Bezold R, Mertens S, Aholt S, Paprotta A, Gerbitz K-D (1997) Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D-loop variants and association with disease. Hum Mol Genet 6:1835-1846
    • (1997) Hum Mol Genet , vol.6 , pp. 1835-1846
    • Hofmann, S.1    Jaksch, M.2    Bezold, R.3    Mertens, S.4    Aholt, S.5    Paprotta, A.6    Gerbitz, K.-D.7
  • 31
    • 0030861438 scopus 로고    scopus 로고
    • The SWISS-PROT protein sequence data bank and its supplement TREMBL
    • Bairoch A, Apweiler R (1997) The SWISS-PROT protein sequence data bank and its supplement TREMBL. Nucleic Acids Res 25:31-26
    • (1997) Nucleic Acids Res , vol.25 , pp. 31-126
    • Bairoch, A.1    Apweiler, R.2
  • 33
    • 0027968068 scopus 로고
    • CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, positions-specific gap penalties and weight matrix choice
    • Thompson JD, Higgins DG, Gibson TJ (1994) CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, positions-specific gap penalties and weight matrix choice. Nucleic Acids Res 22:4673-4680
    • (1994) Nucleic Acids Res , vol.22 , pp. 4673-4680
    • Thompson, J.D.1    Higgins, D.G.2    Gibson, T.J.3
  • 34
    • 0030931336 scopus 로고    scopus 로고
    • Seventy-five percent accuracy in protein secondary structure prediction
    • Frishman D, Argos P (1997) Seventy-five percent accuracy in protein secondary structure prediction. Proteins: Structure Function Genetics 27:329-335
    • (1997) Proteins: Structure Function Genetics , vol.27 , pp. 329-335
    • Frishman, D.1    Argos, P.2
  • 35
    • 0020475449 scopus 로고
    • A simple method for displaying the hydropathic character of a protein
    • Kyte J, Doolittle RF (1982) A simple method for displaying the hydropathic character of a protein. J Mol Biol 157:105-132
    • (1982) J Mol Biol , vol.157 , pp. 105-132
    • Kyte, J.1    Doolittle, R.F.2
  • 37
    • 0026702249 scopus 로고
    • Leber's hereditary optic neuropathy: A model for mitochondrial neurodegenerative disease
    • Brown MD, Voljavec AS, Lott MT, MacDonald I, Wallace DC (1992) Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative disease. FASEB J 6:2791-2799
    • (1992) FASEB J , vol.6 , pp. 2791-2799
    • Brown, M.D.1    Voljavec, A.S.2    Lott, M.T.3    MacDonald, I.4    Wallace, D.C.5
  • 38
    • 0030247011 scopus 로고    scopus 로고
    • Characterization of the mitochondrial DNA in patients with multiple sclerosis
    • Kalman B, Lublin FD, Alder H (1996) Characterization of the mitochondrial DNA in patients with multiple sclerosis. J Neurol Sci 140:75-84
    • (1996) J Neurol Sci , vol.140 , pp. 75-84
    • Kalman, B.1    Lublin, F.D.2    Alder, H.3
  • 39
    • 0029014947 scopus 로고
    • Sequence of the human homologue of a mitochondrially encoded murine transplantation antigen in patients with multiple sclerosis
    • Chalmers RM, Robertson N, Kellar-Wood H, Compston DAS, Harding AE (1995) Sequence of the human homologue of a mitochondrially encoded murine transplantation antigen in patients with multiple sclerosis. J Neurol 242:332-334
    • (1995) J Neurol , vol.242 , pp. 332-334
    • Chalmers, R.M.1    Robertson, N.2    Kellar-Wood, H.3    Compston, D.A.S.4    Harding, A.E.5
  • 41
    • 0030455926 scopus 로고    scopus 로고
    • Site 73 in hypervariable region II of the human mitochondrial genome the origin of European populations
    • Wilkinson-Herbots HM, Richards MB, Forster P, Sykes BC (1996) Site 73 in hypervariable region II of the human mitochondrial genome the origin of European populations. Ann Hum Genet 60:499-508
    • (1996) Ann Hum Genet , vol.60 , pp. 499-508
    • Wilkinson-Herbots, H.M.1    Richards, M.B.2    Forster, P.3    Sykes, B.C.4
  • 42
    • 16944363113 scopus 로고    scopus 로고
    • Haplotype phylogenetic analyses suggest that one European specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
    • Torroni A, Petrozzi M, Durbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, Denegri A, Scozzari R (1997) Haplotype phylogenetic analyses suggest that one European specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 60:1107-1121
    • (1997) Am J Hum Genet , vol.60 , pp. 1107-1121
    • Torroni, A.1    Petrozzi, M.2    Durbano, L.3    Sellitto, D.4    Zeviani, M.5    Carrara, F.6    Carducci, C.7    Leuzzi, V.8    Carelli, V.9    Barboni, P.10    Denegri, A.11    Scozzari, R.12
  • 43
    • 0029339936 scopus 로고
    • How neutral are synonymous codon mutations?
    • Richard I, Beckmann JS (1995) How neutral are synonymous codon mutations? Nat Genet 10:259
    • (1995) Nat Genet , vol.10 , pp. 259
    • Richard, I.1    Beckmann, J.S.2
  • 44
    • 0028841899 scopus 로고
    • The mitochondrion as a primary site of action of glucocorticoids: The interaction of the glucocorticoid receptor with mitochondrial DNA sequences showing partial similarity to the nuclear glucocorticoid responsive elements
    • Demonacos C, Djordjevic-Markovic R, Tsawdaroglou N, Sekeris CE (1995) The mitochondrion as a primary site of action of glucocorticoids: the interaction of the glucocorticoid receptor with mitochondrial DNA sequences showing partial similarity to the nuclear glucocorticoid responsive elements. J Steroid Biochem Mol Biol 55:43-55
    • (1995) J Steroid Biochem Mol Biol , vol.55 , pp. 43-55
    • Demonacos, C.1    Djordjevic-Markovic, R.2    Tsawdaroglou, N.3    Sekeris, C.E.4
  • 45
    • 0025312304 scopus 로고
    • Maternally transmitted histocompatibility antigen of mice: A hydrophobic peptide of a mitochondrially encoded protein
    • Loveland B, Wang CR, Yonekawa H, Hermel E, Lindahl KF (1990) Maternally transmitted histocompatibility antigen of mice: a hydrophobic peptide of a mitochondrially encoded protein. Cell 60:971-980
    • (1990) Cell , vol.60 , pp. 971-980
    • Loveland, B.1    Wang, C.R.2    Yonekawa, H.3    Hermel, E.4    Lindahl, K.F.5
  • 47
    • 0031010596 scopus 로고    scopus 로고
    • Parkinson disease: A new link between monoamine oxidase and mitochondrial electron flow
    • Cohen G, Farooqui R, Kesler N (1997) Parkinson disease: a new link between monoamine oxidase and mitochondrial electron flow. Proc Natl Acad Sci USA 94:4890-4894
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 4890-4894
    • Cohen, G.1    Farooqui, R.2    Kesler, N.3
  • 48
    • 0028574053 scopus 로고
    • Mitochondrial DNA sequence variation in human evolution and disease
    • Wallace DC (1994) Mitochondrial DNA sequence variation in human evolution and disease. Proc Natl Acad Sci USA 91:8739-8746
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 8739-8746
    • Wallace, D.C.1
  • 49
    • 0030749257 scopus 로고    scopus 로고
    • Gene discovery offers tentative clues to Parkinson's disease
    • Vogel G (1997) Gene discovery offers tentative clues to Parkinson's disease. Science 276:1973
    • (1997) Science , vol.276 , pp. 1973
    • Vogel, G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.