메뉴 건너뛰기




Volumn 20, Issue 3, 1999, Pages 153-160

Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy

Author keywords

Japanese patients; Leber's hereditary optic neuropathy; LHON; Mitochondrial DNA; mtDNA; Secondary mutation

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0032742973     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.20.3.153.2281     Document Type: Article
Times cited : (42)

References (19)
  • 1
    • 0028788493 scopus 로고
    • Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNAs indicates multiple independent occurrences of the common mutations
    • Brown MD, Torroni A, Reckord CL, Wallace DC. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNAs indicates multiple independent occurrences of the common mutations. Hum Mutat 1995;6:311-325.
    • (1995) Hum Mutat , vol.6 , pp. 311-325
    • Brown, M.D.1    Torroni, A.2    Reckord, C.L.3    Wallace, D.C.4
  • 2
    • 16944363113 scopus 로고    scopus 로고
    • Haplotype and 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 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, De Negri A, Scozzari R. Haplotype and 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 primary mutations 11778 and 14484. Am J Hum Genet 1997;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    De Negri, A.11    Scozzari, R.12
  • 3
    • 0031034482 scopus 로고    scopus 로고
    • Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage
    • Brown MD, Sun F, Wallace DC. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet 1997;60:381-387.
    • (1997) Am J Hum Genet , vol.60 , pp. 381-387
    • Brown, M.D.1    Sun, F.2    Wallace, D.C.3
  • 4
    • 0000869712 scopus 로고
    • Primary LHON mutations: Trying to separate 'fruyt' from 'chaf'
    • Howell N. Primary LHON mutations: trying to separate 'fruyt' from 'chaf'. Clin Neurosci 1994;2:130-137.
    • (1994) Clin Neurosci , vol.2 , pp. 130-137
    • Howell, N.1
  • 5
    • 0001353580 scopus 로고
    • Spectrum of mitochondrial DNA mutations in Leber's hereditary optic neuropathy
    • Brown MD, Wallace DC. Spectrum of mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Clin Neurosci 1994;2:138-145.
    • (1994) Clin Neurosci , vol.2 , pp. 138-145
    • Brown, M.D.1    Wallace, D.C.2
  • 8
    • 0028221662 scopus 로고
    • Leber's hereditary optic neuropathy: Correlations between mitochondrial genotype and visual outcome
    • Oostra RJ, Bolhuis PA, Wijburg FA, Zorn-Ende G, Bleeker-Wagemakers EM. Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. J Med Genet 1994;31:280-286.
    • (1994) J Med Genet , vol.31 , pp. 280-286
    • Oostra, R.J.1    Bolhuis, P.A.2    Wijburg, F.A.3    Zorn-Ende, G.4    Bleeker-Wagemakers, E.M.5
  • 10
    • 0031650311 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11778
    • Matsumoto M, Hayasaka S, Hotta Y, Fujiki K, Fujimaki T, Takeda M, Ishida N, Endoh S, Kanai A. Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11778. J Hum Genet 1998;43:242-245.
    • (1998) J Hum Genet , vol.43 , pp. 242-245
    • Matsumoto, M.1    Hayasaka, S.2    Hotta, Y.3    Fujiki, K.4    Fujimaki, T.5    Takeda, M.6    Ishida, N.7    Endoh, S.8    Kanai, A.9
  • 12
    • 0026036025 scopus 로고
    • Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy
    • Johns DR, Berman J. Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 1991;174:1324-1330.
    • (1991) Biochem Biophys Res Commun , vol.174 , pp. 1324-1330
    • Johns, D.R.1    Berman, J.2
  • 13
    • 0026753354 scopus 로고
    • Mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I
    • Brown MD, Yang CC, Trounce I, Torroni A, Lott MT, Wallace DCA. Mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I. Am J Hum Genet 1992;51: 378-385.
    • (1992) Am J Hum Genet , vol.51 , pp. 378-385
    • Brown, M.D.1    Yang, C.C.2    Trounce, I.3    Torroni, A.4    Lott, M.T.5    Wallace, D.C.A.6
  • 14
    • 0027425369 scopus 로고
    • Cytochrome c oxidase mutations in Leber hereditary optic neuropathy
    • Johns DR, Neufeld MJ. Cytochrome c oxidase mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1993;196:810-815.
    • (1993) Biochem Biophys Res Commun , vol.196 , pp. 810-815
    • Johns, D.R.1    Neufeld, M.J.2
  • 15
    • 0027978822 scopus 로고
    • Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients
    • Newman NJ. Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. Am J Ophthalmol 1994;118: 158-168.
    • (1994) Am J Ophthalmol , vol.118 , pp. 158-168
    • Newman, N.J.1
  • 16
    • 0026702249 scopus 로고
    • Leber's hereditary optic neuropathy: A model for mitochondrial neurodegenerative diseases
    • Brown MD, Voljavec AS, Lott MT, MacDonald I, Wallace DC. Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases. FASEB J 1992;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
  • 17
    • 0026531040 scopus 로고
    • Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy
    • Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, Wallace DC. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics 1992;130:163-173.
    • (1992) Genetics , vol.130 , pp. 163-173
    • Brown, M.D.1    Voljavec, A.S.2    Lott, M.T.3    Torroni, A.4    Yang, C.C.5    Wallace, D.C.6
  • 18
    • 0031965731 scopus 로고    scopus 로고
    • Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy
    • Mashima Y, Yamada K, Wakakura M, Kigasawa K, Kudoh J, Shimizu N, Oguchi Y. Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy. Curr Eye Res 1998;17: 403-408.
    • (1998) Curr Eye Res , vol.17 , pp. 403-408
    • Mashima, Y.1    Yamada, K.2    Wakakura, M.3    Kigasawa, K.4    Kudoh, J.5    Shimizu, N.6    Oguchi, Y.7
  • 19
    • 0026549067 scopus 로고
    • Identification of two genes of Rhodobacter capsulatus coding for proteins homologous to the ND1 and 23kDa subunits of the mitochondrial Complex I
    • Dupuis A. Identification of two genes of Rhodobacter capsulatus coding for proteins homologous to the ND1 and 23kDa subunits of the mitochondrial Complex I. FEBS Lett 1992;301:215-218.
    • (1992) FEBS Lett , vol.301 , pp. 215-218
    • Dupuis, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.