메뉴 건너뛰기




Volumn 41, Issue 7, 2013, Pages 702-712

Mitochondrial optic neuropathies: Our travels from bench to bedside and back again

Author keywords

Leber's hereditary optic neuropathy; Mitochondria; Optic nerve

Indexed keywords

1,2,3,6 TETRAHYDRO 1 METHYL 4 PHENYLPYRIDINE; CHLORAMPHENICOL; ETHAMBUTOL; IDEBENONE; LINEZOLID; METAL ION; MITOCHONDRIAL DNA; MITOCHONDRIAL PERMEABILITY TRANSITION PORE; MYELIN; PLACEBO; ROTENONE; STREPTOMYCIN; TETRACYCLINE DERIVATIVE; UBIDECARENONE;

EID: 84884981630     PISSN: 14426404     EISSN: 14429071     Source Type: Journal    
DOI: 10.1111/ceo.12086     Document Type: Review
Times cited : (50)

References (83)
  • 1
    • 34548614520 scopus 로고    scopus 로고
    • Why do we still have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine
    • Wallace DC. Why do we still have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine. Annu Rev Biochem 2007; 76: 781-821.
    • (2007) Annu Rev Biochem , vol.76 , pp. 781-821
    • Wallace, D.C.1
  • 2
    • 84862870271 scopus 로고    scopus 로고
    • The axonal transport of mitochondria
    • Saxton WM, Hollenbeck PJ. The axonal transport of mitochondria. J Cell Sci 2012; 125: 2095-2104.
    • (2012) J Cell Sci , vol.125 , pp. 2095-2104
    • Saxton, W.M.1    Hollenbeck, P.J.2
  • 3
    • 0015239454 scopus 로고
    • The turnover of mitochondria in a variety of tissues of young adult and aged rats
    • Menzies RA, Gold PH. The turnover of mitochondria in a variety of tissues of young adult and aged rats. J Biol Chem 1971; 246: 2425-2429.
    • (1971) J Biol Chem , vol.246 , pp. 2425-2429
    • Menzies, R.A.1    Gold, P.H.2
  • 4
    • 48249156188 scopus 로고    scopus 로고
    • Mitochondrial disorders in the nervous system
    • DiMauro S, Schon EA. Mitochondrial disorders in the nervous system. Annu Rev Neurosci 2008; 31: 91-123.
    • (2008) Annu Rev Neurosci , vol.31 , pp. 91-123
    • DiMauro, S.1    Schon, E.A.2
  • 6
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • Wallace DC, Singh G, Lott MT etal. 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
  • 7
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988; 331: 717-719.
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 8
    • 0021143782 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome
    • Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 1984; 16: 481-488.
    • (1984) Ann Neurol , vol.16 , pp. 481-488
    • Pavlakis, S.G.1    Phillips, P.C.2    DiMauro, S.3    De Vivo, D.C.4    Rowland, L.P.5
  • 9
    • 0025666322 scopus 로고
    • A mutation in the tRNA(Leu) (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Goto Y, Nonaka I, Horai S. A mutation in the tRNA(Leu) (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990; 348: 651-653.
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 10
    • 0018885541 scopus 로고
    • Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature
    • Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T. Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature. J Neurol Sci 1980; 47: 117-133.
    • (1980) J Neurol Sci , vol.47 , pp. 117-133
    • Fukuhara, N.1    Tokiguchi, S.2    Shirakawa, K.3    Tsubaki, T.4
  • 11
    • 0025368281 scopus 로고
    • Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
    • Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 1990; 61: 931-937.
    • (1990) Cell , vol.61 , pp. 931-937
    • Shoffner, J.M.1    Lott, M.T.2    Lezza, A.M.3    Seibel, P.4    Ballinger, S.W.5    Wallace, D.C.6
  • 13
    • 84861760081 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy: new quinone therapies change the paradigm
    • Sadun AA, La Morgia C, Carelli V. Leber's hereditary optic neuropathy: new quinone therapies change the paradigm. Expert Rev Ophthalmol 2012; 7: 251-259.
    • (2012) Expert Rev Ophthalmol , vol.7 , pp. 251-259
    • Sadun, A.A.1    La Morgia, C.2    Carelli, V.3
  • 14
    • 0015333611 scopus 로고
    • Leber's optic atrophy, a possible example of maternal inheritance
    • Erickson RP. Leber's optic atrophy, a possible example of maternal inheritance. Am J Hum Genet 1972; 24: 348-349.
    • (1972) Am J Hum Genet , vol.24 , pp. 348-349
    • Erickson, R.P.1
  • 15
    • 84924064715 scopus 로고
    • Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families
    • Kjer P. Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol 1959; 164: 1-147.
    • (1959) Acta Ophthalmol , vol.164 , pp. 1-147
    • Kjer, P.1
  • 16
    • 20244381365 scopus 로고    scopus 로고
    • Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
    • Delettre C, Lenaers G, Griffoin JM etal. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 2000; 26: 207-210.
    • (2000) Nat Genet , vol.26 , pp. 207-210
    • Delettre, C.1    Lenaers, G.2    Griffoin, J.M.3
  • 17
    • 0033772264 scopus 로고    scopus 로고
    • OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
    • Alexander C, Votruba M, Pesch UE etal. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 2000; 26: 211-215.
    • (2000) Nat Genet , vol.26 , pp. 211-215
    • Alexander, C.1    Votruba, M.2    Pesch, U.E.3
  • 18
    • 79551638162 scopus 로고    scopus 로고
    • Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies
    • Yu-Wai-Man P, Griffiths PG, Chinnery PF. Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies. Prog Retin Eye Res 2011; 30: 81-114.
    • (2011) Prog Retin Eye Res , vol.30 , pp. 81-114
    • Yu-Wai-Man, P.1    Griffiths, P.G.2    Chinnery, P.F.3
  • 19
    • 34447600937 scopus 로고
    • Uber hereditare und congenital-angelegte Sehnervenleiden
    • Leber T. Uber hereditare und congenital-angelegte Sehnervenleiden. Archiv Ophthal 1871; 17: 249-291.
    • (1871) Archiv Ophthal , vol.17 , pp. 249-291
    • Leber, T.1
  • 20
    • 0026746739 scopus 로고
    • A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology
    • Mackey D, Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet 1992; 51: 1218-1228.
    • (1992) Am J Hum Genet , vol.51 , pp. 1218-1228
    • Mackey, D.1    Howell, N.2
  • 21
    • 0026757115 scopus 로고
    • An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
    • Johns DR, Neufeld MJ, Park RD. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1992; 187: 1551-1557.
    • (1992) Biochem Biophys Res Commun , vol.187 , pp. 1551-1557
    • Johns, D.R.1    Neufeld, M.J.2    Park, R.D.3
  • 22
    • 0025944560 scopus 로고
    • Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees
    • Howell N, Bindoff LA, McCullough DA etal. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet 1991; 49: 939-950.
    • (1991) Am J Hum Genet , vol.49 , pp. 939-950
    • Howell, N.1    Bindoff, L.A.2    McCullough, D.A.3
  • 24
    • 0001626214 scopus 로고
    • Morphological findings in the visual system in a case of Leber's hereditary optic neuropathy
    • Sadun AA, Kashima Y, Wurdeman AE etal. Morphological findings in the visual system in a case of Leber's hereditary optic neuropathy. Clin Neurosci 1994; 2: 165-172.
    • (1994) Clin Neurosci , vol.2 , pp. 165-172
    • Sadun, A.A.1    Kashima, Y.2    Wurdeman, A.E.3
  • 25
    • 0028858450 scopus 로고
    • Leber hereditary optic neuropathy. Electron microscopy and molecular genetic analysis of a case
    • Kerrison JB, Howell N, Miller NR, Hirst L, Green WR. Leber hereditary optic neuropathy. Electron microscopy and molecular genetic analysis of a case. Ophthalmology 1995; 102: 1509-1516.
    • (1995) Ophthalmology , vol.102 , pp. 1509-1516
    • Kerrison, J.B.1    Howell, N.2    Miller, N.R.3    Hirst, L.4    Green, W.R.5
  • 26
    • 0034520010 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve
    • discussion 232-5.
    • Sadun AA, Win PH, Ross-Cisneros FN, Walker SO, Carelli V. Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve. Trans Am Ophthalmol Soc 2000; 98: 223-232; discussion 232-5.
    • (2000) Trans Am Ophthalmol Soc , vol.98 , pp. 223-232
    • Sadun, A.A.1    Win, P.H.2    Ross-Cisneros, F.N.3    Walker, S.O.4    Carelli, V.5
  • 27
    • 0032416346 scopus 로고    scopus 로고
    • Oxygen and ion concentrations in normoxic and hypoxic brain cells
    • Silver I, Erecinska M. Oxygen and ion concentrations in normoxic and hypoxic brain cells. Adv Exp Med Biol 1998; 454: 7-16.
    • (1998) Adv Exp Med Biol , vol.454 , pp. 7-16
    • Silver, I.1    Erecinska, M.2
  • 28
    • 33847043933 scopus 로고    scopus 로고
    • Mitochondria and neuronal activity
    • Kann O, Kovacs R. Mitochondria and neuronal activity. Am J Physiol 2007; 292: C641-C657.
    • (2007) Am J Physiol , vol.292
    • Kann, O.1    Kovacs, R.2
  • 30
    • 0942268749 scopus 로고    scopus 로고
    • The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head
    • Barron MJ, Griffiths P, Turnbull DM, Bates D, Nichols P. The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head. Br J Ophthalmol 2004; 88: 286-290.
    • (2004) Br J Ophthalmol , vol.88 , pp. 286-290
    • Barron, M.J.1    Griffiths, P.2    Turnbull, D.M.3    Bates, D.4    Nichols, P.5
  • 31
    • 79960510298 scopus 로고    scopus 로고
    • Matching mitochondria to metabolic needs at nodes of Ranvier
    • Chiu SY. Matching mitochondria to metabolic needs at nodes of Ranvier. Neuroscientist 2011; 17: 343-350.
    • (2011) Neuroscientist , vol.17 , pp. 343-350
    • Chiu, S.Y.1
  • 33
    • 33748044052 scopus 로고    scopus 로고
    • Mitochondrial ophthalmology
    • In: DiMauro S, Hirano M, Schon E, eds. Abingdon, UK: Informa Healthcare Publisher
    • Carelli V, Barboni P, Sadun AA. Mitochondrial ophthalmology. In: DiMauro S, Hirano M, Schon E, eds. Mitochondrial Medicine. Abingdon, UK: Informa Healthcare Publisher, 2006; 105-142.
    • (2006) Mitochondrial Medicine , pp. 105-142
    • Carelli, V.1    Barboni, P.2    Sadun, A.A.3
  • 35
    • 10744227920 scopus 로고    scopus 로고
    • Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy
    • Sadun F, De Negri AM, Carelli V etal. Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol 2004; 137: 271-277.
    • (2004) Am J Ophthalmol , vol.137 , pp. 271-277
    • Sadun, F.1    De Negri, A.M.2    Carelli, V.3
  • 36
    • 33947672860 scopus 로고    scopus 로고
    • Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study
    • Sadun AA, Salomao SR, Berezovsky A etal. Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study. Trans Am Ophthalmol Soc 2006; 104: 51-61.
    • (2006) Trans Am Ophthalmol Soc , vol.104 , pp. 51-61
    • Sadun, A.A.1    Salomao, S.R.2    Berezovsky, A.3
  • 37
    • 77049083822 scopus 로고    scopus 로고
    • Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography
    • Barboni P, Carbonelli M, Savini G etal. Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography. Ophthalmology 2010; 117: 623-627.
    • (2010) Ophthalmology , vol.117 , pp. 623-627
    • Barboni, P.1    Carbonelli, M.2    Savini, G.3
  • 38
    • 84872189044 scopus 로고    scopus 로고
    • Nerve fiber layer stress index (NFL-SI): mathematically modeling the involvement of axons in Leber's hereditary optic neuropathy
    • Pan BX, Ross-Cisneros FN, Carelli V etal. Nerve fiber layer stress index (NFL-SI): mathematically modeling the involvement of axons in Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci 2012; 53: 7608-7617.
    • (2012) Invest Ophthalmol Vis Sci , vol.53 , pp. 7608-7617
    • Pan, B.X.1    Ross-Cisneros, F.N.2    Carelli, V.3
  • 39
    • 0042850443 scopus 로고    scopus 로고
    • Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy
    • Sadun AA, Carelli V, Salomao SR etal. Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol 2003; 136: 231-238.
    • (2003) Am J Ophthalmol , vol.136 , pp. 231-238
    • Sadun, A.A.1    Carelli, V.2    Salomao, S.R.3
  • 40
    • 41149109085 scopus 로고    scopus 로고
    • Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy
    • Shankar SP, Fingert JH, Carelli V etal. Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. Ophthalmic Genet 2008; 29: 17-24.
    • (2008) Ophthalmic Genet , vol.29 , pp. 17-24
    • Shankar, S.P.1    Fingert, J.H.2    Carelli, V.3
  • 41
    • 0036981804 scopus 로고    scopus 로고
    • A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy
    • discussion 178-9.
    • Sadun AA, Carelli V, Salomao SR etal. A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy. Trans Am Ophthalmol Soc 2002; 100: 169-178; discussion 178-9.
    • (2002) Trans Am Ophthalmol Soc , vol.100 , pp. 169-178
    • Sadun, A.A.1    Carelli, V.2    Salomao, S.R.3
  • 42
    • 34250175807 scopus 로고    scopus 로고
    • Male prevalence of acquired color vision defects in asymptomatic carriers of Leber's hereditary optic neuropathy
    • Ventura DF, Gualtieri M, Oliveira AG etal. Male prevalence of acquired color vision defects in asymptomatic carriers of Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci 2007; 48: 2362-2370.
    • (2007) Invest Ophthalmol Vis Sci , vol.48 , pp. 2362-2370
    • Ventura, D.F.1    Gualtieri, M.2    Oliveira, A.G.3
  • 43
    • 64049086605 scopus 로고    scopus 로고
    • Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy
    • Ramos Cdo V, Bellusci C, Savini G etal. Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci 2009; 50: 1666-1674.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , pp. 1666-1674
    • Ramos Cdo, V.1    Bellusci, C.2    Savini, G.3
  • 44
    • 58049120571 scopus 로고    scopus 로고
    • Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON)
    • Guy J, Shaw G, Ross-Cisneros FN etal. Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON). Mol Vis 2008; 14: 2443-2450.
    • (2008) Mol Vis , vol.14 , pp. 2443-2450
    • Guy, J.1    Shaw, G.2    Ross-Cisneros, F.N.3
  • 45
    • 84871871663 scopus 로고    scopus 로고
    • Neuron specific enolase is elevated in asymptomatic carriers of leber's hereditary optic neuropathy
    • Yee KM, Ross-Cisneros FN, Lee JG etal. Neuron specific enolase is elevated in asymptomatic carriers of leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci 2012; 53: 6389-6392.
    • (2012) Invest Ophthalmol Vis Sci , vol.53 , pp. 6389-6392
    • Yee, K.M.1    Ross-Cisneros, F.N.2    Lee, J.G.3
  • 46
    • 3543025191 scopus 로고    scopus 로고
    • Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration
    • Carelli V, Rugolo M, Sgarbi G etal. Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration. Biochim Biophys Acta 2004; 1658: 172-179.
    • (2004) Biochim Biophys Acta , vol.1658 , pp. 172-179
    • Carelli, V.1    Rugolo, M.2    Sgarbi, G.3
  • 47
    • 59049097778 scopus 로고    scopus 로고
    • Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels
    • Porcelli AM, Angelin A, Ghelli A etal. Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels. J Biol Chem 2009; 284: 2045-2052.
    • (2009) J Biol Chem , vol.284 , pp. 2045-2052
    • Porcelli, A.M.1    Angelin, A.2    Ghelli, A.3
  • 48
    • 78650693389 scopus 로고    scopus 로고
    • Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy
    • Giordano C, Montopoli M, Perli E etal. Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy. Brain 2011; 134: 220-234.
    • (2011) Brain , vol.134 , pp. 220-234
    • Giordano, C.1    Montopoli, M.2    Perli, E.3
  • 50
    • 41549088355 scopus 로고    scopus 로고
    • Myelin, mitochondria, and autoimmunity: what's the connection?
    • Carelli V, Bellan M. Myelin, mitochondria, and autoimmunity: what's the connection? Neurology 2008; 70: 1075-1076.
    • (2008) Neurology , vol.70 , pp. 1075-1076
    • Carelli, V.1    Bellan, M.2
  • 51
    • 84872893573 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic options
    • Carelli V, La Morgia C, Sadun AA. Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic options. Curr Opin Neurol 2013; 26: 52-58.
    • (2013) Curr Opin Neurol , vol.26 , pp. 52-58
    • Carelli, V.1    La Morgia, C.2    Sadun, A.A.3
  • 52
    • 63049100743 scopus 로고    scopus 로고
    • Evidence for aerobic ATP synthesis in isolated myelin vesicles
    • Ravera S, Panfoli I, Calzia D etal. Evidence for aerobic ATP synthesis in isolated myelin vesicles. Int J Biochem Cell Biol 2009; 41: 1581-1591.
    • (2009) Int J Biochem Cell Biol , vol.41 , pp. 1581-1591
    • Ravera, S.1    Panfoli, I.2    Calzia, D.3
  • 53
    • 38849192448 scopus 로고    scopus 로고
    • OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes
    • Amati-Bonneau P, Valentino ML, Reynier P etal. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain 2008; 131: 338-351.
    • (2008) Brain , vol.131 , pp. 338-351
    • Amati-Bonneau, P.1    Valentino, M.L.2    Reynier, P.3
  • 54
    • 0020285935 scopus 로고
    • Nutritional amblyopia. Folic acid, vitamin B-12, and other vitamins
    • Knox DL, Chen MF, Guilarte TR, Dang CV, Burnette J. Nutritional amblyopia. Folic acid, vitamin B-12, and other vitamins. Retina 1982; 2: 288-293.
    • (1982) Retina , vol.2 , pp. 288-293
    • Knox, D.L.1    Chen, M.F.2    Guilarte, T.R.3    Dang, C.V.4    Burnette, J.5
  • 55
  • 56
    • 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
  • 59
    • 64049112293 scopus 로고    scopus 로고
    • Ethambutol optic neuropathy: how we can prevent 100,000 new cases of blindness each year
    • Sadun AA, Wang MY. Ethambutol optic neuropathy: how we can prevent 100, 000 new cases of blindness each year. J Neuroophthalmol 2008; 28: 265-268.
    • (2008) J Neuroophthalmol , vol.28 , pp. 265-268
    • Sadun, A.A.1    Wang, M.Y.2
  • 60
    • 76449084536 scopus 로고    scopus 로고
    • Risk factors for ethambutol optic toxicity
    • Talbert Estlin KA, Sadun AA. Risk factors for ethambutol optic toxicity. Int Ophthalmol 2010; 30: 63-72.
    • (2010) Int Ophthalmol , vol.30 , pp. 63-72
    • Talbert Estlin, K.A.1    Sadun, A.A.2
  • 62
    • 33846261882 scopus 로고    scopus 로고
    • Linezolid-induced optic neuropathy: a mitochondrial disorder?
    • Review. Erratum in: Br J Ophthalmol. 2007 Mar;91(3):403.
    • Javaheri M, Khurana RN, O'hearn TM, Lai MM, Sadun AA. Linezolid-induced optic neuropathy: a mitochondrial disorder? Br J Ophthalmol 2007; 91: 111-115. Review. Erratum in: Br J Ophthalmol. 2007 Mar;91(3):403.
    • (2007) Br J Ophthalmol , vol.91 , pp. 111-115
    • Javaheri, M.1    Khurana, R.N.2    O'hearn, T.M.3    Lai, M.M.4    Sadun, A.A.5
  • 63
    • 0008574328 scopus 로고    scopus 로고
    • Ethambutol-induced vacuolar changes and neuronal loss in rat retinal cell culture: mediation by endogenous zinc
    • Yoon YH, Jung KH, Sadun AA, Shin HC, Koh JY. Ethambutol-induced vacuolar changes and neuronal loss in rat retinal cell culture: mediation by endogenous zinc. Toxicol Appl Pharmacol 2000; 162: 107-114.
    • (2000) Toxicol Appl Pharmacol , vol.162 , pp. 107-114
    • Yoon, Y.H.1    Jung, K.H.2    Sadun, A.A.3    Shin, H.C.4    Koh, J.Y.5
  • 64
    • 0032062569 scopus 로고    scopus 로고
    • A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at NT 11778
    • Dotti MT, Plewnia K, Cardaioli E etal. A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at NT 11778. J Neurol 1998; 245: 302-303.
    • (1998) J Neurol , vol.245 , pp. 302-303
    • Dotti, M.T.1    Plewnia, K.2    Cardaioli, E.3
  • 65
    • 0027520465 scopus 로고
    • Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia
    • Cullom ME, Heher KL, Miller NR, Savino PJ, Johns DR. Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia. Arch Ophthalmol 1993; 111: 1482-1485.
    • (1993) Arch Ophthalmol , vol.111 , pp. 1482-1485
    • Cullom, M.E.1    Heher, K.L.2    Miller, N.R.3    Savino, P.J.4    Johns, D.R.5
  • 67
    • 0032443810 scopus 로고    scopus 로고
    • Acquired mitochondrial impairment as a cause of optic nerve disease
    • Sadun A. Acquired mitochondrial impairment as a cause of optic nerve disease. Trans Am Ophthalmol Soc 1998; 96: 881-923.
    • (1998) Trans Am Ophthalmol Soc , vol.96 , pp. 881-923
    • Sadun, A.1
  • 68
    • 84870623870 scopus 로고    scopus 로고
    • Mouse mtDNA mutant model of Leber hereditary optic neuropathy
    • Lin CS, Sharpley MS, Fan W etal. Mouse mtDNA mutant model of Leber hereditary optic neuropathy. Proc Natl Acad Sci U S A 2012; 109: 20065-20070.
    • (2012) Proc Natl Acad Sci U S A , vol.109 , pp. 20065-20070
    • Lin, C.S.1    Sharpley, M.S.2    Fan, W.3
  • 69
    • 84861203685 scopus 로고    scopus 로고
    • Gene delivery to mitochondria by targeting modified adenoassociated virus suppresses Leber's hereditary optic neuropathy in a mouse model
    • Yu H, Koilkonda RD, Chou TH etal. Gene delivery to mitochondria by targeting modified adenoassociated virus suppresses Leber's hereditary optic neuropathy in a mouse model. Proc Natl Acad Sci U S A 2012; 109: E1238-1247.
    • (2012) Proc Natl Acad Sci U S A , vol.109
    • Yu, H.1    Koilkonda, R.D.2    Chou, T.H.3
  • 70
    • 77955368934 scopus 로고    scopus 로고
    • Successful amelioration of mitochondrial optic neuropathy using the yeast NDI1 gene in a rat animal model
    • Marella M, Seo BB, Thomas BB, Matsuno-Yagi A, Yagi T. Successful amelioration of mitochondrial optic neuropathy using the yeast NDI1 gene in a rat animal model. Plos ONE 2010; 5: e11472.
    • (2010) Plos ONE , vol.5
    • Marella, M.1    Seo, B.B.2    Thomas, B.B.3    Matsuno-Yagi, A.4    Yagi, T.5
  • 71
    • 0016830903 scopus 로고
    • Symbiotic theory of the origin of eukaryotic organelles; criteria for proof
    • Margulis L. Symbiotic theory of the origin of eukaryotic organelles; criteria for proof. Symp Soc Exp Biol 1975; 29: 21-38.
    • (1975) Symp Soc Exp Biol , vol.29 , pp. 21-38
    • Margulis, L.1
  • 72
    • 73349091842 scopus 로고    scopus 로고
    • The role of mitochondria in apoptosis
    • Wang C, Youle RJ. The role of mitochondria in apoptosis. Annu Rev Genet 2009; 43: 95-118.
    • (2009) Annu Rev Genet , vol.43 , pp. 95-118
    • Wang, C.1    Youle, R.J.2
  • 73
    • 33845977959 scopus 로고    scopus 로고
    • Mitochondrial membrane permeabilization in cell death
    • Kroemer G, Galluzzi L, Brenner C. Mitochondrial membrane permeabilization in cell death. Physiol Rev 2007; 87: 99-163.
    • (2007) Physiol Rev , vol.87 , pp. 99-163
    • Kroemer, G.1    Galluzzi, L.2    Brenner, C.3
  • 74
    • 84859886931 scopus 로고    scopus 로고
    • Mitochondria and reactive oxygen species. Which role in physiology and pathology?
    • Lenaz G. Mitochondria and reactive oxygen species. Which role in physiology and pathology? Adv Exp Med Biol 2012; 942: 93-136.
    • (2012) Adv Exp Med Biol , vol.942 , pp. 93-136
    • Lenaz, G.1
  • 75
    • 0037423202 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium
    • Ghelli A, Zanna C, Porcelli AM etal. Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium. J Biol Chem 2003; 278: 4145-4150.
    • (2003) J Biol Chem , vol.278 , pp. 4145-4150
    • Ghelli, A.1    Zanna, C.2    Porcelli, A.M.3
  • 76
    • 24644461049 scopus 로고    scopus 로고
    • Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G
    • Zanna C, Ghelli A, Porcelli AM, Martinuzzi A, Carelli V, Rugolo M. Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G. Apoptosis 2005; 10: 997-1007.
    • (2005) Apoptosis , vol.10 , pp. 997-1007
    • Zanna, C.1    Ghelli, A.2    Porcelli, A.M.3    Martinuzzi, A.4    Carelli, V.5    Rugolo, M.6
  • 77
    • 70949090567 scopus 로고    scopus 로고
    • Gene-environment interactions in Leber hereditary optic neuropathy
    • Kirkman MA, Yu-Wai-Man P, Korsten A etal. Gene-environment interactions in Leber hereditary optic neuropathy. Brain 2009; 132: 2317-2326.
    • (2009) Brain , vol.132 , pp. 2317-2326
    • Kirkman, M.A.1    Yu-Wai-Man, P.2    Korsten, A.3
  • 78
    • 0036398010 scopus 로고    scopus 로고
    • Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits
    • Geromel V, Darin N, Chrétien D etal. Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits. Mol Genet Metab 2002; 77: 21-30.
    • (2002) Mol Genet Metab , vol.77 , pp. 21-30
    • Geromel, V.1    Darin, N.2    Chrétien, D.3
  • 79
    • 79957829839 scopus 로고    scopus 로고
    • α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging
    • Shrader WD, Amagata A, Barnes A etal. α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging. Bioorg Med Chem Lett 2011; 21: 3693-3698.
    • (2011) Bioorg Med Chem Lett , vol.21 , pp. 3693-3698
    • Shrader, W.D.1    Amagata, A.2    Barnes, A.3
  • 80
    • 80052959702 scopus 로고    scopus 로고
    • A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy
    • Klopstock T, Yu-Wai-Man P, Dimitriadis K etal. A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy. Brain 2011; 134: 2677-2686.
    • (2011) Brain , vol.134 , pp. 2677-2686
    • Klopstock, T.1    Yu-Wai-Man, P.2    Dimitriadis, K.3
  • 81
    • 80052958201 scopus 로고    scopus 로고
    • Idebenone treatment in Leber's hereditary optic neuropathy
    • Carelli V, La Morgia C, Valentino ML etal. Idebenone treatment in Leber's hereditary optic neuropathy. Brain 2011; 134: e188.
    • (2011) Brain , vol.134
    • Carelli, V.1    La Morgia, C.2    Valentino, M.L.3
  • 82
    • 84874316439 scopus 로고    scopus 로고
    • Idebenone treatment in patients with OPA1-mutant dominant optic atrophy
    • Barboni P, Valentino ML, La Morgia C etal. Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. Brain 2013; 136: e231.
    • (2013) Brain , vol.136
    • Barboni, P.1    Valentino, M.L.2    La Morgia, C.3
  • 83
    • 84858599179 scopus 로고    scopus 로고
    • Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy
    • Sadun AA, Chicani CF, Ross-Cisneros FN etal. Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy. Arch Neurol 2012; 69: 331-338.
    • (2012) Arch Neurol , vol.69 , pp. 331-338
    • Sadun, A.A.1    Chicani, C.F.2    Ross-Cisneros, F.N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.