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Volumn 52, Issue 5, 2002, Pages 534-542

Rescue of a mitochondrial deficiency causing leber hereditary optic neuropathy

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ADENOSINE TRIPHOSPHATE; GUANINE; MITOCHONDRIAL DNA; ND4 PROTEIN; PROTEIN SUBUNIT; UNCLASSIFIED DRUG; VIRUS VECTOR;

EID: 0036830565     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10354     Document Type: Article
Times cited : (245)

References (41)
  • 1
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:1427-1430.
    • (1988) Science , vol.242 , pp. 1427-1430
    • Wallace, D.C.1    Singh, G.2    Lott, M.T.3
  • 2
    • 0025091956 scopus 로고
    • Protein sorting to mitochondria: Evolutionary conservations of folding and assembly
    • Hartl FU, Neupert W. Protein sorting to mitochondria: Evolutionary conservations of folding and assembly. Science 1990; 247:930-938.
    • (1990) Science , vol.247 , pp. 930-938
    • Hartl, F.U.1    Neupert, W.2
  • 3
    • 0034326946 scopus 로고    scopus 로고
    • Mitochondrial genetics and disease
    • Schon EA. Mitochondrial genetics and disease. Trends Biochem Sci 2000;25:555-560.
    • (2000) Trends Biochem Sci , vol.25 , pp. 555-560
    • Schon, E.A.1
  • 4
    • 0033862962 scopus 로고    scopus 로고
    • The epidemiology of pathogenic mitochondrial DNA mutations
    • Chinnery PF, Johnson MA, Wardell TM, et al. The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 2000;48:188-193.
    • (2000) Ann Neurol , vol.48 , pp. 188-193
    • Chinnery, P.F.1    Johnson, M.A.2    Wardell, T.M.3
  • 5
    • 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, et al. Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy. Ann Neurol 1999;45:320-328.
    • (1999) Ann Neurol , vol.45 , pp. 320-328
    • Carelli, V.1    Ghelli, A.2    Bucchi, L.3
  • 6
    • 0033525773 scopus 로고    scopus 로고
    • Mitochondrial diseases in man and mouse
    • Wallace DC. Mitochondrial diseases in man and mouse. Science 1999;283:1482-1488.
    • (1999) Science , vol.283 , pp. 1482-1488
    • Wallace, D.C.1
  • 7
    • 0034691280 scopus 로고    scopus 로고
    • Resolution of the membrane domain of bovine complex I into subcomplexes: Implications for the structural organization of the enzyme
    • Sazanov LA, Peak-Chew SY, Fearnley IM, et al. Resolution of the membrane domain of bovine complex I into subcomplexes: Implications for the structural organization of the enzyme. Biochemistry 2000;39:7229-7235.
    • (2000) Biochemistry , vol.39 , pp. 7229-7235
    • Sazanov, L.A.1    Peak-Chew, S.Y.2    Fearnley, I.M.3
  • 8
    • 0029118005 scopus 로고
    • MtDNA mutations associated with Leber's hereditary optic neuropathy: Studies on cytoplasmic hybrid (cybrid) cells
    • Vergani L, Martinuzzi A, Carelli V, et al. MtDNA mutations associated with Leber's hereditary optic neuropathy: Studies on cytoplasmic hybrid (cybrid) cells. Biochem Biophys Res Commun 1995;210:880-888.
    • (1995) Biochem Biophys Res Commun , vol.210 , pp. 880-888
    • Vergani, L.1    Martinuzzi, A.2    Carelli, V.3
  • 9
    • 0025995774 scopus 로고
    • Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)
    • Majander A, Huoponen K, Savontaus ML, et al. Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON). FEBS Lett 1991;292: 289-292.
    • (1991) FEBS Lett , vol.292 , pp. 289-292
    • Majander, A.1    Huoponen, K.2    Savontaus, M.L.3
  • 10
    • 0025936841 scopus 로고
    • Leber's hereditary optic neuropathy and complex I deficiency in muscle
    • Larsson NG, Andersen O, Holme E, et al. Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann Neurol 1991;30:701-708.
    • (1991) Ann Neurol , vol.30 , pp. 701-708
    • Larsson, N.G.1    Andersen, O.2    Holme, E.3
  • 11
    • 0034704125 scopus 로고    scopus 로고
    • Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation
    • Brown MD, Trounce IA, Jun AS, et al. Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation. J Biol Chem 2000;275:39831-39836.
    • (2000) J Biol Chem , vol.275 , pp. 39831-39836
    • Brown, M.D.1    Trounce, I.A.2    Jun, A.S.3
  • 12
    • 0033137096 scopus 로고    scopus 로고
    • Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • Cock HR, Cooper JM, Schapira AH. Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. J Neurol Sci 1999;165:10-17.
    • (1999) J Neurol Sci , vol.165 , pp. 10-17
    • Cock, H.R.1    Cooper, J.M.2    Schapira, A.H.3
  • 13
    • 0033609069 scopus 로고    scopus 로고
    • Mitochondrial disease in mouse results in increased oxidative stress
    • Esposito LA, Melov S, Panov A, et al. Mitochondrial disease in mouse results in increased oxidative stress. Proc Natl Acad Sci USA 1999;96:4820-4825.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 4820-4825
    • Esposito, L.A.1    Melov, S.2    Panov, A.3
  • 14
    • 0033137153 scopus 로고    scopus 로고
    • The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy
    • Brown MD. The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy. J Neurol Sci 1999;165:1-5.
    • (1999) J Neurol Sci , vol.165 , pp. 1-5
    • Brown, M.D.1
  • 15
    • 0032788451 scopus 로고    scopus 로고
    • Reporter expression persists 1 year after adeno-associated virus-mediated gene transfer to the optic nerve
    • Guy J, Qi X, Muzyczka N, et al. Reporter expression persists 1 year after adeno-associated virus-mediated gene transfer to the optic nerve. Arch Ophthalmol 1999;117:929-937.
    • (1999) Arch Ophthalmol , vol.117 , pp. 929-937
    • Guy, J.1    Qi, X.2    Muzyczka, N.3
  • 16
    • 0032506235 scopus 로고    scopus 로고
    • Adeno-associated viral-mediated catalase expression suppresses optic neuritis in experimental allergic encephalomyelitis
    • Guy J, Qi X, Hauswirth WW. Adeno-associated viral-mediated catalase expression suppresses optic neuritis in experimental allergic encephalomyelitis. Proc Natl Acad Sci USA 1998;95:13847-13852.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 13847-13852
    • Guy, J.1    Qi, X.2    Hauswirth, W.W.3
  • 17
    • 0029924283 scopus 로고    scopus 로고
    • Allotopic expression of mitochondrial ATP synthase genes in nucleus of Saccharomyces cerevisiae
    • Gray RE, Law RH, Devenish RJ, et al. Allotopic expression of mitochondrial ATP synthase genes in nucleus of Saccharomyces cerevisiae. Methods Enzymol 1996;264:369-389.
    • (1996) Methods Enzymol , vol.264 , pp. 369-389
    • Gray, R.E.1    Law, R.H.2    Devenish, R.J.3
  • 18
    • 0034633616 scopus 로고    scopus 로고
    • Recombinant adeno-associated virus vector-based gene transfer for defects in oxidative metabolism
    • Owen R IV, Lewin AP, Peel A, et al. Recombinant adeno-associated virus vector-based gene transfer for defects in oxidative metabolism. Hum Gene Ther 2000;11:2067-2078.
    • (2000) Hum Gene Ther , vol.11 , pp. 2067-2078
    • Owen R. IV1    Lewin, A.P.2    Peel, A.3
  • 19
    • 0036544631 scopus 로고    scopus 로고
    • Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus
    • Manfredi G, Fu J, Ojaimi J, et al. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Nat Genet 2002;30:394-399.
    • (2002) Nat Genet , vol.30 , pp. 394-399
    • Manfredi, G.1    Fu, J.2    Ojaimi, J.3
  • 20
    • 0034091924 scopus 로고    scopus 로고
    • Production and purification of recombinant adeno-associated virus
    • Hauswirth WW, Lewin AS, Zolotukhin S, et al. Production and purification of recombinant adeno-associated virus. Methods Enzymol 2000;316:743-761.
    • (2000) Methods Enzymol , vol.316 , pp. 743-761
    • Hauswirth, W.W.1    Lewin, A.S.2    Zolotukhin, S.3
  • 21
  • 22
    • 0029964226 scopus 로고    scopus 로고
    • Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines
    • Trounce IA, Kim YL, Jun AS, et al. Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines. Methods Enzymol 1996;264:484-509.
    • (1996) Methods Enzymol , vol.264 , pp. 484-509
    • Trounce, I.A.1    Kim, Y.L.2    Jun, A.S.3
  • 23
  • 24
    • 0027267257 scopus 로고
    • Molecular cloning and sequence of two cDNAs for human subunit c of H(+)-ATP synthase in mitochondria
    • Higuti T, Kawamura Y, Kuroiwa K, et al. Molecular cloning and sequence of two cDNAs for human subunit c of H(+)-ATP synthase in mitochondria. Biochim Biophys Acta 1993;1173:87-90.
    • (1993) Biochim Biophys Acta , vol.1173 , pp. 87-90
    • Higuti, T.1    Kawamura, Y.2    Kuroiwa, K.3
  • 25
    • 0033617448 scopus 로고    scopus 로고
    • In vivo mitochondrial import. A comparison of leader sequence charge and structural relationships with the in vitro model resulting in evidence for cotranslational import
    • Ni L, Heard TS, Weiner H. In vivo mitochondrial import. A comparison of leader sequence charge and structural relationships with the in vitro model resulting in evidence for cotranslational import. J Biol Chem 1999;274:12685-12691.
    • (1999) J Biol Chem , vol.274 , pp. 12685-12691
    • Ni, L.1    Heard, T.S.2    Weiner, H.3
  • 26
    • 0035914437 scopus 로고    scopus 로고
    • Lack of complex I activity in human cells carrying a mutation in MtDNA-encoded ND4 subunit is corrected by the Saccharomyces cerevisiae NADH-quinone oxidoreductase (NDI1) gene
    • Bai Y, Hajek P, Chomyn A, et al, Lack of complex I activity in human cells carrying a mutation in MtDNA-encoded ND4 subunit is corrected by the Saccharomyces cerevisiae NADH-quinone oxidoreductase (NDI1) gene. J Biol Chem 2001;276:38808-38813.
    • (2001) J Biol Chem , vol.276 , pp. 38808-38813
    • Bai, Y.1    Hajek, P.2    Chomyn, A.3
  • 27
    • 0018386209 scopus 로고
    • Evidence that glutamine, not sugar, is the major energy source for cultured HeLa cells
    • Reitzer LJ, Wice BM, Kennell D. Evidence that glutamine, not sugar, is the major energy source for cultured HeLa cells. J Biol Chem 1979;254:2669-2676.
    • (1979) J Biol Chem , vol.254 , pp. 2669-2676
    • Reitzer, L.J.1    Wice, B.M.2    Kennell, D.3
  • 28
    • 0033013692 scopus 로고    scopus 로고
    • Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene
    • Andreu AL, Tanji K, Bruno C, et al. Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene. Ann Neurol 1999;45:820-823.
    • (1999) Ann Neurol , vol.45 , pp. 820-823
    • Andreu, A.L.1    Tanji, K.2    Bruno, C.3
  • 29
    • 15844414869 scopus 로고    scopus 로고
    • Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy
    • Hofhaus G, Johns DR, Hurko O, et al. Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy. J Biol Chem 1996;271:13155-13161.
    • (1996) J Biol Chem , vol.271 , pp. 13155-13161
    • Hofhaus, G.1    Johns, D.R.2    Hurko, O.3
  • 30
    • 0030053091 scopus 로고    scopus 로고
    • Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy
    • Yen MY, Lee HC, Liu JH, et al. Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy. Br J Ophthalmol 1996;80:78-81.
    • (1996) Br J Ophthalmol , vol.80 , pp. 78-81
    • Yen, M.Y.1    Lee, H.C.2    Liu, J.H.3
  • 31
    • 84975518719 scopus 로고    scopus 로고
    • Energy charge is not decreased in lymphocytes of patients with Leber's hereditary optic neuropathy with the 11,778 mutation
    • Yen MY, Lee JF, Liu JH, et al. Energy charge is not decreased in lymphocytes of patients with Leber's hereditary optic neuropathy with the 11,778 mutation. J Neuroophthalmol 1998; 18:84-85.
    • (1998) J Neuroophthalmol , vol.18 , pp. 84-85
    • Yen, M.Y.1    Lee, J.F.2    Liu, J.H.3
  • 32
    • 0030753203 scopus 로고    scopus 로고
    • Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases
    • Majander A, Lamminen T, Juvonen V, et al. Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases. FEBS Lett 1997;412:351-354.
    • (1997) FEBS Lett , vol.412 , pp. 351-354
    • Majander, A.1    Lamminen, T.2    Juvonen, V.3
  • 33
    • 0030881830 scopus 로고    scopus 로고
    • In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by 31P magnetic resonance spectroscopy
    • Lodi R, Taylor DJ, Tabrizi SJ, et al. In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by 31P magnetic resonance spectroscopy. Ann Neurol 1997;42:573-579.
    • (1997) Ann Neurol , vol.42 , pp. 573-579
    • Lodi, R.1    Taylor, D.J.2    Tabrizi, S.J.3
  • 34
    • 0037084559 scopus 로고    scopus 로고
    • Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells
    • Wong A, Cavelier L, Collins-Schramm HE, et al. Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells. Hum Mol Genet 2002;11:431-438.
    • (2002) Hum Mol Genet , vol.11 , pp. 431-438
    • Wong, A.1    Cavelier, L.2    Collins-Schramm, H.E.3
  • 35
    • 0036182712 scopus 로고    scopus 로고
    • Optic nerve degeneration and mitochondrial dysfunction: Genetic and acquired optic neuropathies
    • Carelli V, Ross-Cisneros FN, Sadun AA. Optic nerve degeneration and mitochondrial dysfunction: Genetic and acquired optic neuropathies. Neurochem Int 2002;40:573-584.
    • (2002) Neurochem Int , vol.40 , pp. 573-584
    • Carelli, V.1    Ross-Cisneros, F.N.2    Sadun, A.A.3
  • 36
    • 0033772263 scopus 로고    scopus 로고
    • Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes
    • Inoue K, Nakada K, Ogura A, et al. Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nat Genet 2000;26:176-181.
    • (2000) Nat Genet , vol.26 , pp. 176-181
    • Inoue, K.1    Nakada, K.2    Ogura, A.3
  • 37
    • 0035782651 scopus 로고    scopus 로고
    • Mito-mice: Animal models for mitochondrial DNA-based diseases
    • Nakada K, Inoue K, Hayashi J. Mito-mice: Animal models for mitochondrial DNA-based diseases. Semin Cell Dev Biol 2001;12:459-465.
    • (2001) Semin Cell Dev Biol , vol.12 , pp. 459-465
    • Nakada, K.1    Inoue, K.2    Hayashi, J.3
  • 38
    • 0027180961 scopus 로고
    • Leber's hereditary optic neuropathy. New genetic considerations
    • Newman NJ. Leber's hereditary optic neuropathy. New genetic considerations. Arch Neurol 1993;50:540-548.
    • (1993) Arch Neurol , vol.50 , pp. 540-548
    • Newman, N.J.1
  • 39
    • 0029064615 scopus 로고
    • Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation
    • Harding AE, Sweeney MG, Govan GG, et al. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet 1995;57:77-86.
    • (1995) Am J Hum Genet , vol.57 , pp. 77-86
    • Harding, A.E.1    Sweeney, M.G.2    Govan, G.G.3
  • 40
    • 0035032662 scopus 로고    scopus 로고
    • Gene therapy restores vision in a canine model of childhood blindness
    • Acland GM, Aguirre GD, Ray J, et al. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet 2001;28:92-95.
    • (2001) Nat Genet , vol.28 , pp. 92-95
    • Acland, G.M.1    Aguirre, G.D.2    Ray, J.3
  • 41
    • 0036544881 scopus 로고    scopus 로고
    • A roundabout route to gene therapy
    • Turnbull DM, Lightowlers RN. A roundabout route to gene therapy. Nat Genet 2002;30:345-346.
    • (2002) Nat Genet , vol.30 , pp. 345-346
    • Turnbull, D.M.1    Lightowlers, R.N.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.