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Volumn 8, Issue 3, 2008, Pages 205-210

T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family

Author keywords

Leber's hereditary optic neuropathy; Mitochondrial DNA (mtDNA) mutation; ND6 gene; Polymorphism

Indexed keywords

CYTOSINE; MITOCHONDRIAL DNA; THYMINE;

EID: 46149090812     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2008.02.003     Document Type: Article
Times cited : (32)

References (31)
  • 2
    • 0032541401 scopus 로고    scopus 로고
    • The mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme
    • Bai Y.D., and Attardi G. The mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme. EMBO J. 17 (1998) 4848-4858
    • (1998) EMBO J. , vol.17 , pp. 4848-4858
    • Bai, Y.D.1    Attardi, G.2
  • 3
    • 0028788493 scopus 로고
    • Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations
    • Brown M.D., Torroni A., Reckord L.C., and Wallace D.C. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations. Hum. Mutat. 6 (1995) 311-325
    • (1995) Hum. Mutat. , vol.6 , pp. 311-325
    • Brown, M.D.1    Torroni, A.2    Reckord, L.C.3    Wallace, D.C.4
  • 4
    • 0034704125 scopus 로고    scopus 로고
    • Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mtDNA mutations
    • Brown M.D., Trounce I.A., Jun A.S., Allen J.C., and Wallace D.C. Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mtDNA mutations. J. Biol. Chem. 275 (2000) 39831-39836
    • (2000) J. Biol. Chem. , vol.275 , pp. 39831-39836
    • Brown, M.D.1    Trounce, I.A.2    Jun, A.S.3    Allen, J.C.4    Wallace, D.C.5
  • 5
    • 0036304765 scopus 로고    scopus 로고
    • Impact of mutations affecting ND mitochondria-encoded subunits on the activity and assembly of complex I in Chlamydomonas. Implication for the structural organization of the enzyme
    • Cardol P., Matagne R.F., and Remacle C. Impact of mutations affecting ND mitochondria-encoded subunits on the activity and assembly of complex I in Chlamydomonas. Implication for the structural organization of the enzyme. J. Mol. Biol. 319 (2002) 1211-1221
    • (2002) J. Mol. Biol. , vol.319 , pp. 1211-1221
    • Cardol, P.1    Matagne, R.F.2    Remacle, C.3
  • 6
    • 0033028388 scopus 로고    scopus 로고
    • Biochemical features of mtDNA 14484(ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy
    • Carelli V., Ghelli A., Bucchi L., Montagna P., De Negri A., Leuzzi V., et al. Biochemical features of mtDNA 14484(ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy. Ann. Neurol. 45 (1999) 320-328
    • (1999) Ann. Neurol. , vol.45 , pp. 320-328
    • Carelli, V.1    Ghelli, A.2    Bucchi, L.3    Montagna, P.4    De Negri, A.5    Leuzzi, V.6
  • 8
    • 0029967483 scopus 로고    scopus 로고
    • Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
    • De Vries D.D., Went L.N., Bruyn G.W., Scholte H.R., Hofstra R.M., Bolhuis P.A., and van OoSt B.A. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am. J. Hum. Genet. 58 (1996) 703-711
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 703-711
    • De Vries, D.D.1    Went, L.N.2    Bruyn, G.W.3    Scholte, H.R.4    Hofstra, R.M.5    Bolhuis, P.A.6    van OoSt, B.A.7
  • 9
    • 0036396123 scopus 로고    scopus 로고
    • Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy
    • Fauser S., Leo-Kottler B., Besch D., and Luberichs J. Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy. Ophthalmic Genet. 23 (2002) 191-197
    • (2002) Ophthalmic Genet. , vol.23 , pp. 191-197
    • Fauser, S.1    Leo-Kottler, B.2    Besch, D.3    Luberichs, J.4
  • 11
    • 0030806721 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve
    • Howell N. Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve. Vision Res. 37 (1997) 3495-3507
    • (1997) Vision Res. , vol.37 , pp. 3495-3507
    • Howell, N.1
  • 17
    • 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., and Oguchi Y. Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy. Curr. Eye Res. 17 4 (1998) 403-408
    • (1998) Curr. Eye Res. , vol.17 , Issue.4 , pp. 403-408
    • Mashima, Y.1    Yamada, K.2    Wakakura, M.3    Kigasawa, K.4    Kudoh, J.5    Shimizu, N.6    Oguchi, Y.7
  • 21
    • 21144457788 scopus 로고    scopus 로고
    • Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy
    • Qian Y., Zhou X., Hu Y., Tong Y., Li R., Lu F., Yang H., Mo J.Q., Qu J., and Guan M.X. Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 332 (2005) 614-621
    • (2005) Biochem. Biophys. Res. Commun. , vol.332 , pp. 614-621
    • Qian, Y.1    Zhou, X.2    Hu, Y.3    Tong, Y.4    Li, R.5    Lu, F.6    Yang, H.7    Mo, J.Q.8    Qu, J.9    Guan, M.X.10
  • 22
    • 13744251831 scopus 로고    scopus 로고
    • Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation
    • Qu J., Li R., Tong Y., Hu Y., Zhou X., Qian Y., Lu F., and Guan M.X. Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation. Biochem. Biophys. Res. Commun. 328 (2005) 1139-1145
    • (2005) Biochem. Biophys. Res. Commun. , vol.328 , pp. 1139-1145
    • Qu, J.1    Li, R.2    Tong, Y.3    Hu, Y.4    Zhou, X.5    Qian, Y.6    Lu, F.7    Guan, M.X.8
  • 23
    • 33644868369 scopus 로고    scopus 로고
    • The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON associated ND4 G11778A mutation
    • Qu J., Li R., Zhou X., Tong Y., Lu F., Qian Y., Hu Y., Mo J.Q., West C.E., and Guan M.X. The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON associated ND4 G11778A mutation. Invest. Ophthalmol. Vis. Sci. 47 (2006) 475-483
    • (2006) Invest. Ophthalmol. Vis. Sci. , vol.47 , pp. 475-483
    • Qu, J.1    Li, R.2    Zhou, X.3    Tong, Y.4    Lu, F.5    Qian, Y.6    Hu, Y.7    Mo, J.Q.8    West, C.E.9    Guan, M.X.10
  • 24
    • 0003118424 scopus 로고    scopus 로고
    • A century of mitochondrial research: achievements and perspectives
    • Scheffler I.E. A century of mitochondrial research: achievements and perspectives. Mitochondrion 1 (2001) 3-31
    • (2001) Mitochondrion , vol.1 , pp. 3-31
    • Scheffler, I.E.1
  • 26
    • 33745748018 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families
    • Sun Y.H., Wei Q.P., Zhou X., Qian Y., Zhou J., Lu F., Qu J., and Guan M.X. Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families. Biochem. Biophys. Res. Commun. 347 (2006) 221-225
    • (2006) Biochem. Biophys. Res. Commun. , vol.347 , pp. 221-225
    • Sun, Y.H.1    Wei, Q.P.2    Zhou, X.3    Qian, Y.4    Zhou, J.5    Lu, F.6    Qu, J.7    Guan, M.X.8
  • 27
    • 0036260961 scopus 로고    scopus 로고
    • Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy
    • Valentino M.L., Avoni P., Barboni P., Pallotti F., Rengo C., Torroni A., Bellan M., Baruzzi A., and Carelli V. Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy. Ann. Neurol. 51 (2002) 774-778
    • (2002) Ann. Neurol. , vol.51 , pp. 774-778
    • Valentino, M.L.1    Avoni, P.2    Barboni, P.3    Pallotti, F.4    Rengo, C.5    Torroni, A.6    Bellan, M.7    Baruzzi, A.8    Carelli, V.9
  • 30
    • 0032854412 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy (LHON): a mitochondrial disease with unresolved complexities
    • Went L.N. Leber hereditary optic neuropathy (LHON): a mitochondrial disease with unresolved complexities. Cytogenet. Cell Genet. 86 (1999) 153-156
    • (1999) Cytogenet. Cell Genet. , vol.86 , pp. 153-156
    • Went, L.N.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.