Mitochondrial dysfunction as a cause of optic neuropathies

Progress in Retinal and Eye Research

Volumn 23, Issue 1, 2004, Pages 53-89

  Carelli, Valerio ^a,b   Ross Cisneros, Fred N ^a   Sadun, Alfredo A ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Complex I; DOA; Leber's; LHON; Mitochondria; OPA1; Optic neuropathy; Retinal ganglion cell

Indexed keywords

1,2,3,6 TETRAHYDRO 1 METHYL 4 PHENYLPYRIDINE; ALPHA 2 ADRENERGIC RECEPTOR BLOCKING AGENT; AMINOGUANIDINE; ANTIRETROVIRUS AGENT; BROMINIDINE; CHLORAMPHENICOL; ETHAMBUTOL; IDEBENONE; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; RECOMBINANT DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (QUINONE); REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); ROTENONE; TUBULIN; UNCLASSIFIED DRUG;

ALCOHOL ABUSE; APOPTOSIS; AUTOSOMAL DOMINANT OPTIC ATROPHY; BIOCHEMISTRY; BIOGENESIS; BLOOD BRAIN BARRIER; CARDIOVASCULAR SYSTEM; CYTOSKELETON; ENERGY; ENERGY YIELD; FUNGAL GENE; GENE EXPRESSION; GENE INTERACTION; GENE MUTATION; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC TRANSFECTION; GENOME; GLAUCOMA; HUMAN; INFRARED RADIATION; LEBER HEREDITARY OPTIC NEUROPATHY; LEIGH DISEASE; MELAS SYNDROME; METABOLISM; METHANOL POISONING; MICROVASCULARIZATION; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL GENETICS; MYELIN SHEATH; MYELINATED NERVE; NERVE CELL NECROSIS; NERVE FIBER TRANSPORT; NEUROPROTECTION; NONHUMAN; NONMYELINATED NERVE; OPTIC NERVE; OPTIC NERVE DISEASE; OXIDATIVE PHOSPHORYLATION; PARKINSON DISEASE; PHOTOBIOMODULATION; PRIORITY JOURNAL; PROTEIN CONTENT; RESPIRATORY CHAIN; RESPIRATORY FAILURE; RETINA GANGLION CELL; REVIEW; SACCHAROMYCES CEREVISIAE; THERAPY; TOBACCO DEPENDENCE; TOXICITY; VITAMIN DEFICIENCY;

EID: 0842281697     PISSN: 13509462     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.preteyeres.2003.10.003     Document Type: Review

References (348)

1. Alexander C., Votruba M., Pesch U.E.A., Thiselton D.L., Mayer S., Moore A., Rodriguez M., Kellner U., Leo-Kottler B., Auburger G., Bhattacharya S.S., Wissinger B. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat. Genet. 26:2000;211-215.
2. Anderson S., Bankier A.T., Barrell B.G., de Bruijn M.H., Coulson A.R., Drouin J., Eperon I.C., Nierlich D.P., Roe B.A., Sanger F., Schreier P.H., Smith A.J., Staden R., Young I.G. Sequence and organization of the human mitochondrial genome. Nature. 290:1981;457-465.
3. Andrews R.M., Griffiths P.G., Johnson M.A., Turnbull D.M. Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina. Br. J. Ophthalmol. 83:1999;231-235.
4. Au H.C., Seo B.B., Matsuno-Yagi A., Yagi T., Scheffler .I.E. The NDUFA1 gene product (MWFE protein) is essential for activity of complex I in mammalian mitochondria. Proc. Natl. Acad. Sci. USA. 96:1999;4354-4359.
5. Aung T., Ocaka L., Ebenezer N.D., Morris A.G., Krawczak M., Thiselton D.L., Alexander C., Votruba M., Brice G., Child A.H., Francis P.J., Hitchings R.A., Lehmann O.J., Bhattacharya S.S. A major marker for normal tension glaucoma. association with polymorphisms in the OPA1 gene Hum. Genet. 110:2002;52-56.
6. Aung T., Ocaka L., Ebenezer N.D., Morris A.G., Brice G., Child A.H., Hitchings R.A., Lehmann O.J., Bhattacharya S.S. Investigating the association between OPA1 polymorphisms and glaucoma. comparison between normal tension glaucoma and high tension primary open angle glaucoma Hum. Genet. 110:2002;513-514.
7. Aung T., Okada K., Poinoosawmy D., Membrey L., Brice G., Child A.H., Bhattacharya S.S., Lehmann O.J., Garway-Heath D.F., Hitchings R.A. The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms. Br. J. Ophthalmol. 87:2003;149-152.
8. Bai Y., Hajek P., Chomyn A., Chan E., Seo B.B., Matsuno-Yagi A., Yagi T., Attardi G. Lack of complex I activity in human cells carrying a mutation in mtDNA-encoded ND4 subunit is corrected by the Saccharomyces cervisiae NADH-quinone oxidoreductase (NDI1) gene. J. Biol. Chem. 276:2001;38808-38813.
9. Barbiroli B., Montagna P., Cortelli P., Iotti S., Lodi R., Barboni P., Monari L., Lugaresi E., Frassineti C., Zaniol P. Defective brain and muscle energy metabolism shown by in vivo 31P magnetic resonance spectroscopy in nonaffected carriers of 11778 mtDNA mutation. Neurology. 45:1995;1364-1369.
10. Barrientos A., Moraes C.T. Titrating the effects of mitochondrial complex I impairment in the cell physiology. J. Biol. Chem. 274:1999;16188- 16197.
11. Bereiter-Hahn J., Voth M. Dynamics of mitochondria in living cells. shape changes, dislocations, fusion, and fission of mitochondria Microsc. Res. Tech. 27:1994;198-219.
12. Berkelaar M., Clarke D.B., Wang Y.-C., Bray G.M., Aguayo A.J. Axotomy results in delayed death and apoptosis of retinal ganglion cells in adult rats. J. Neurosci. 14:1994;4368-4374.
13. Berry E.A., Guergova-Kuras M., Huang L.S., Crofts A.R. Structure and function of cytochrome bc complexes. Annu. Rev. Biochem. 69:2000;1005-1075.
14. Besch D., Leo-Kottler B., Zrenner E., Wissinger B. Leber's hereditary optic neuropathy. clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene Graefes Arch. Clin. Exp. Ophthalmol. 237:1999;745-752.
15. Betarbet R., Sherer T.B., Greenamyre J.T. Animal models of Parkinson's disease. Bioessays. 24:2002;308-318.
16. Biousse V., Pardue M.T., Wallace D.C., Newman N.J. The eyes of mito-mouse. mouse models of mitochondrial disease J. Neuroophthalmol. 22:2002;279-285.
17. Borras C., Sastre J., Garcia-Sala D., Lloret A., Pallardo F.V., Vina J. Mitochondria from females exhibit higher antioxidant gene expression and lower oxidative damage than males. Free Radic. Biol. Med. 34:2003;546-552.
18. Brady S.T., Witt A.S., Kirkpatrick L.L., de Waegh S.M., Readhead C., Tu P.-H., Lee V.M.-Y. Formation of compact myelin is required for maturation of the axonal cytoskeleton. J. Neurosci. 19:1999;7278-7288.
19. Brierley E.J., Griffiths P.G., Weber K., Johnson M.A., Turnbull D.M. Normal respiratory chain function in patients with low-tension glaucoma. Arch. Ophthalmol. 114:1996;142-146.
20. Bristow E.A., Griffiths P.G., Andrews R.M., Johnson M.A., Turnbull D.M. The distribution of mitochondrial activity in relation to optic nerve structure. Arch. Ophthalmol. 120:2002;791-796.
21. Brown M.D. The enigmatic relationship between mitochondrial dysfunction and Leber' s hereditary optic neuropathy. J. Neurol. Sci. 165:1999;1-5.
22. Brown M.D., Voljavec A.S., Lott M.T., Torroni A., Yang C.C., Wallace D.C. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics. 130:1992;163-173.
23. Brown M.D., Torroni A., Huoponen K., Chen Y.S., Lott M.T., Wallace D.C. Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy. Am. J. Hum. Genet. 55:1994;410-412.
24. Brown M.D., Torroni A., Reckord C.L., 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.
25. Brown M.D., Sun F., Wallace D.C. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am. J. Hum. Genet. 60:1997;381-387.
26. Brown M.D., Trounce I.A., Jun A.S., Allen J.C., Wallace D.C. Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation. J. Biol. Chem. 275:2000;39831-39836.
27. Brown M.D., Zhadanov S., Allen J.C., Hosseini S., Newman N.J., Atamonov V.V., Mikhailovskaya I.E., Sukernik R.I., Wallace D.C. Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families. Hum. Genet. 109:2001;33-39.
28. Brown M.D., Starikovskaya E., Derbeneva O., Hosseini S., Allen J.C., Mikhailovskaya I.E., Sukernik R.I., Wallace D.C. The role of mtDNA background in disease expression. a new primary LHON mutation associated with Western Eurasian haplogroup J. Hum. Genet. 110:2002;130-138.
29. Bu X.D., Rotter J.I. X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy. evidence from segregation analysis for dependence on X chromosome inactivation Proc. Natl. Acad. Sci. USA. 88:1991;8198-8202.
30. Bu X., Rotter J.I. Leber hereditary optic neuropathy. estimation of number of embryonic precursor cells and disease threshold in heterozygous affected females at the X-linked locus Clin. Genet. 42:1992;143-148.
31. Buono L.M., Foroozan R., Sergott R.C., Savino P.J. Is normal tension glaucoma actually an unrecognized hereditary optic neuropathy? New evidence from genetic analysis. Curr. Opin. Ophthalmol. 13:2002;362-370.
32. Carelli V. Leber's hereditary optic neuropathy. Schapira A.H.V., DiMauro S. Mitochondrial Disorders in Neurology. 2nd Edition. 2002;115-142 Butterworth-Heinemann, Boston.
33. Carelli V., Sadun A.A. Optic neuropathy in LHON and Leigh syndrome. a common pathogenic mechanism? Ophthalmology. 108:2001;1172-1173.
34. Carelli V., Ghelli A., Ratta M., Bacchilega E., Sangiorgi S., Mancini R., Leuzzi V., Cortelli P., Montagna P., Lugaresi E., Degli Esposti M. Leber's hereditary optic neuropathy. biochemical effect of the 11778/ND4 and 3460/N D1 mutations and correlation with the mitochondrial genotype Neurology. 48:1997;1623-1632.
35. Carelli, V., Ghelli, A., Cevoli, S., Cortelli, P., Lugaresi, E., Baruzzi, A., Leuzzi, V., Degli Esposti, M., Barboni, P., Montagna, P., 1998a. Idebenone therapy in Leber's hereditary optic neuropathy: report of six cases. Neurology 50(Suppl. 4), VI02002.
36. Carelli V., Barboni P., Zacchini A., Mancini R., Monari L., Cevoli S., Liguori R., Sensi M., Lugaresi E., Montagna P. Leber's hereditary optic neuropathy (LHON) with 14484/ND6 mutation in a North African patient. J. Neurol. Sci. 160:1998;183-188.
37. Carelli V., Ghelli A., Bucchi L., Montagna P., De Negri A., Leuzzi V., Carducci C., Lenaz G., Lugaresi E., Degli Esposti M. Biochemical features of mtDNA 14484 (ND6/M64. V) point mutation associated with Leber' s hereditary optic neuropathy Ann. Neurol. 45:1999;320-328.
38. Carelli V., Sadun A.A., Ross-Cisneros F.N., Rao N., Qi, X., Guy J. Reactive oxygen species in the pathogenesis of Leber's hereditary optic neuropathy [Arvo Abstract #1650]. Invest. Ophthalmol. Vis. Sci. 41:2000;S312.
39. Carelli V., Ross-Cisneros F.N., Sadun A.A. Optic nerve degeneration and mitochondrial dysfunction. genetic and acquired optic neuropathies Neurochem. Int. 40:2002;573-584.
40. Carelli V., Vergani L., Bernazzi B., Zampieron C., Bucchi L., Valentino M., Rengo C., Torroni A., Martinuzzi A. Respiratory function in cybrid cell lines carrying European mtDNA haplogroups. implications for Leber's hereditary optic neuropathy Biochim. Biophys. Acta. 1588:2002;7-14.
41. Carelli V., Giordano C., d'Amati G. Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction. Trends Genet. 19:2003;257-262.
42. Carelli, V., Wang, K., Valentino, M.L., Shankar, S.P., Salomao, S.S., Belford, R., Sadun, A.A., Stone, E.M., 2003b. Segregation analysis of a large LHON pedigree is consistent with the existence of a nuclear modifying gene [ARVO Abstract #937]. Invest. Ophthalmol. Vis. Sci.
43. Carroll J., Shannon R.J., Fearnley I.M., Walker J.E., Hirst J. Definition of the nuclear encoded protein composition of bovine heart mitochondrial complex I. Identification of two new subunits. J. Biol. Chem. 277:2002;50311-50317.
44. Carvalho M.R.S., Muller B., Rotzer E., Berninger T., Kommerell G., Blankenagel A., Savontaus M.L., Meitinger T., Lorenz B. Leber's hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor. no linkage to DXS7 Hum. Hered. 42:1992;316-320.
45. Cavanagh J.B., Harding B.N. Pathogenic factors underlying the lesions in Leigh' s disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences. Brain. 117:1994;1357-1376.
46. Chalmers R.M., Davis M.B., Sweeney M.G., Wood N.W., Harding A.E. Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy. Am. J. Hum. Genet. 59:1996;103-108.
47. Chang T.S., Johns D.R., Walker D., de la Cruz Z., Maumenee I.H., Green W.R. Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes. Arch. Ophthalmol. 111:1993;1254-1262.
48. Chauvin C., De Oliveira F., Ronot X., Mousseau M., Leverve X., Fontaine E. Rotenone inhibits the mitochondrial permeability transition-induced cell death in U937 and KB cells. J. Biol. Chem. 276:2001;41394-41398.
49. Chen J.D., Cox I., Denton M.J. Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis. Hum. Genet. 82:1989;203-207.
50. Chinnery P.F., Johnson M.A., Wardell T.M., Singh-Kler R., Hayes C., Brown D.T., Taylor R.W., Bindoff L.A., Turnbull D.M. The epidemiology of pathogenic mitochondrial DNA mutations. Ann. Neurol. 48:2000;188-193.
51. Chinnery P.F., Brown D.T., Andrews R.M., Singh-Kler R., Riordan-Eva P., Lindley J., Applegarth D.A., Turnbull D.M., Howell N. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. Brain. 124:2001;209-218.
52. Chol M., Lebon S., Benit P., Chretien D., de Lonlay P., Goldenberg A., Odent S., Hertz-Pannier L., Vincent-Delorme C., Cormier-Daire V., Rustin P., Rotig A., Munnich A. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J. Med. Genet. 40:2003;188-191.
53. Chuman H., Nao-I T., Chuman T., Sawada A., Ozaki M., Futami Y., Isashiki Y. Atypical Leber's hereditary optic neuropathy. a case with five different episodes of visual disturbance Neuroophthalmology. 22:1999;195-198.
54. Clementi E., Brown G.C., Feelisch M., Moncada S. Persistent inhibition of cell respiration by nitric oxide. crucial role of S-nitrosylation of mitochondrial complex I and protective action of glutathione Proc. Natl. Acad. Sci. USA. 95:1998;7631-7636.
55. Cock H.R., Tabrizi S.J., Cooper J.M., Schapira A.H.V. The influence of nuclear background on the biochemical expression of 3460 Leber' s hereditary optic neuropathy. Ann. Neurol. 44:1998;187-193.
56. Cock H.R., Cooper J.M., Schapira A.H.V. Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber' s hereditary optic neuropathy. J. Neurol. Sci. 165:1999;10-17.
57. Corona P., Antozzi C., Carrara F., D'Incerti L., Lamantea E., Tiranti V., Zeviani M. A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Ann. Neurol. 49:2001;106-110.
58. Cortelli P., Montagna P., Avoni P., Sangiorgi S., Bresolin N., Moggio M., Zaniol P., Mantovani V., Barboni P., Barbiroli B., Lugaresi E. Leber's hereditary optic neuropathy. genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family Neurology. 41:1991;1211-1215.
59. Cortelli P., Montagna P., Pierangeli G., Lodi R., Barboni P., Liguori R., Carelli V., Iotti S., Zaniol P., Lugaresi E., Barbiroli B. Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy. a clinical and 31P-MRS study J. Neurol. Sci. 148:1997;25-31.
60. Crimi M., Galbiati S., Moroni I., Bordoni A., Perini M.P., Lamantea E., Sciacco M., Zeviani M., Biunno I., Moggio M., Scarlato G., Comi G.P. A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology. 60:2003;1857-1861.
61. Danielson S.R., Wong A., Carelli V., Martinuzzi A., Schapira A.H., Cortopassi G.A. Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-induced apoptosis. J. Biol. Chem. 277:2002;5810-5815.
62. De Benedictis G., Rose G., Carrieri G., De Luca M., Falcone E., Passarino G., Bonafe M., Monti D., Baggio G., Bertolini S., Mari D., Mattace R., Franceschi C. Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans. FASEB J. 13:1999;1532-1536.
63. Degli Esposti M., Carelli V., Ghelli A., Ratta M., Crimi M., Sangiorgi S., Montagna P., Lenaz G., Lugaresi E., Cortelli P. Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy. FEBS Lett. 352:1994;375-379.
64. Degli Esposti M., Ngo A., Ghelli A., Benelli B., Carelli V., McLennan H., Linnane A.W. The interaction of Q analogs, particularly hydroxydecyl benzoquinone (idebenone), with the respiratory complexes of heart mitochondria. Arch. Biochem. Biophys. 330:1996;395-400.
65. Degli Esposti M., Hatzinisiriou I., McLennan H., Ralph S. Bcl-2 and mitochondrial oxygen radicals. New approaches with reactive oxygen species-sensitive probes. J. Biol. Chem. 274:1999;29831-29837.
66. Delettre C., Lenaers G., Griffoin J.-M., Gigarel N., Lorenzo C., Belenguer P., Pelloquin L., Grosgeorge J., Turc-Carel C., Perret E., Astarie-Dequeker C., Lasquellec L., Arnaud B., Ducommun B., Kaplan J., Hamel C.P. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat. Genet. 26:2000;207-210.
67. Delettre C., Griffoin J.-M., Kaplan J., Dollfus H., Lorenz B., Faivre L., Lenaers G., Belenguer P., Hamel C.P. Mutation spectrum and splicing variants in the OPA1 gene. Hum. Genet. 109:2001;584-591.
68. Delettre C., Lenaers G., Pelloquin L., Belenguer P., Hamel C.P. OPA1 (Kjer type) dominant optic atrophy. a novel mitochondrial disease Mol. Genet. Metab. 75:2002;97-107.
69. Delettre C., Lenaers G., Belenguer P., Hamel C.P. Gene structure and chromosomal localization of mouse Opa1. its exclusion from the Bst locus BMC Genet. 4:2003;8.
70. De Marinis M. Optic neuropathy after treatment with anti-tuberculous drugs in a subject with Leber's hereditary optic neuropathy mutation. J. Neurol. 248:2001;818-8819.
71. Dermietzel R., Spray D.C. Gap junctions in the brain. where, what type, how many and why? Trends Neurosci. 16:1993;186-192.
72. De Vries D.D., Went L.N., Bruyn G.W., Scholte H.R., Hofstra R.M., Bolhuis P.A., 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.
73. Dogulu C.F., Kansu T., Seyrantepe V., Ozguc M., Topaloglu H., Johns D.R. Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population. Eye. 15:2001;183-188.
74. Dotti M.T., Plewnia K., Cardaioli E., Manneschi L., Rufa A., Alema G., Federico A. A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778. J. Neurol. 245:1998;302-303.
75. DuBois L.G., Feldon S.E. Evidence for metabolic trigger for Leber's hereditary optic neuropathy. A case report. J. Clin. Neuroophthalmol. 12:1992;15-16.
76. Eells J.T., Gonzales-Quevedo A., Santiesteban Freixas R., McMartin K.E., Sadun A.A. Folic acid deficiency and increased concentrations of formate in serum and cerebrospinal fluid of patients with epidemic optical neuropathy. Rev. Cubana Med. Trop. 52:2000;21-23.
77. Eells J.T., Henry M.M., Summerfelt P., Wong-Riley M.T., Buchmann E.V., Kane M., Whelan N.T., Whelan H.T. Therapeutic photobiomodulation for methanol-induced retinal toxicity. Proc. Natl. Acad. Sci. USA. 100:2003;3439-3444.
78. Eiberg H., Kjer B., Kjer P., Rosenberg T. Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. Hum. Mol. Genet. 3:1994;977-980.
79. Erickson R.P. Leber's optic atrophy, a possible example of mitochondrial inheritance. Am. J. Hum. Genet. 24:1972;348-349.
80. Esposito L.A., Melov S., Panov A., Cottrell B.A., Wallace D.C. Mitochondrial disease in mouse results in increased oxidative stress. Proc. Natl. Acad. Sci. USA. 96:1999;4820-4825.
81. Esposito L.A., Kokoszka J.E., Waymire K.G., Cottrell B., MacGregor G.R., Wallace D.C. Mitochondrial oxidative stress in mice lacking the glutathione peroxidase-1 gene. Free Radic. Biol. Med. 28:2000;754-766.
82. Fauser S., Leo-Kottler B., Besch D., 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.
83. Fauser S., Luberichs J., Besch D., Leo-Kottler B. Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations. Biochem. Biophys. Res. Commun. 295:2002;342-347.
84. Fine, B.S., Yanoff, M., 1979. Ocular Histology. A Text and Atlas. Harper & Row, New York, pp. 111-124.
85. Fontaine E., Bernardi P. Progress on the mitochondrial permeability transition pore. regulation by complex I and ubiquinone analogs J. Bioenerg. Biomembr. 31:1999;335-345.
86. Fontaine E., Eriksson O., Ichas F., Bernardi P. Regulation of the permeability transition pore in skeletal muscle mitochondria. Modulation by electron flow through the respiratory chain complex I. J. Biol. Chem. 273:1998;12662-12668.
87. Fredericks C.A., Giolli R.A., Blanks R.H., Sadun A.A. The human accessory optic system. Brain Res. 454:1988;116-122.
88. Funalot B., Reynier P., Vighetto A., Ranoux D., Bonnefont J.P., Godinot C., Malthiery Y., Mas J.L. Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. Ann. Neurol. 52:2002;374-377.
89. 10 and idebenone in the therapy of respiratory chain diseases. rationale and comparative benefits Mol. Genet. Metab. 77:2002;21-30.
90. Ghelli A., Degli Esposti M., Carelli V., Lenaz G. Changes in mitochondrial complex I activity and coenzyme Q binding site in Leber' s hereditary optic neuropathy (LHON). Mol. Aspects Med. 18:1997;263-267.
91. Ghelli A., Zanna C., Porcelli A.M., Schapira A.H., Martinuzzi A., Carelli V., Rugolo M. Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium. J. Biol. Chem. 278:2003;4145-4150.
92. Giles R.E., Blanc H., Cann H.M., Wallace D.C. Maternal inheritance of human mitochondrial DNA. Proc. Natl. Acad. Sci. USA. 77:1980;6715-6719.
93. Giulivi C. Characterization and function of mitochondrial nitric-oxide synthase. Free Radic. Biol. Med. 34:2003;397-408.
94. Glaser J.S., Sadun A.A. Anatomy of the visual sensory system. Glaser J.S. Neuro-Ophthalmology. 1990;61-82 JB Lippincott Co. Philadelphia.
95. Goldberg J.L., Klassen M.P., Hua Y., Barres B.A. Amacrine-signaled loss of intrinsic axon growth ability by retinal ganglion cells. Science. 296:2002;1860-1864.
96. Goldberg J.L., Espinosa J.S., Xu Y., Davidson N., Kovacs G.T., Barres B.A. Retinal ganglion cells do not extend axons by default. promotion by neurotrophic signaling and electrical activity Neuron. 33:2002;689-702.
97. Goldblum D., Mittag T. Prospects for relevant glaucoma models with retinal ganglion cell damage in the rodent eye. Vision Res. 42:2002;471-478.
98. Grafstein B. Axonal transport. function and mechanisms Waxman S.G., Kocsis J.D., Stys P.K. The Axon: Structure, Function and Pathophysiology. 1995;185-199 Oxford University Press, Oxford.
99. Graham B.H., Waymire K.G., Cottrell B., Trounce I.A., MacGregor G.R., Wallace D.C. A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart muscle isoform of the adenine nucleotide translocator. Nat. Genet. 16:1997;226-234.
100. Green D.R., Reed J.C. Mitochondria and apoptosis. Science. 281:1998;1309-1312.
101. Griffiths I., Klugmann M., Anderson T., Yool D., Thomson C., Schwab M.H., Schneider A., Zimmermann F., McCulloch M., Nadon N., Nave K.A. Axonal swellings and degeneration in mice lacking the major proteolipid of myelin. Science. 280:1998;1610-1613.
102. Guy J. New therapies for optic neuropathies. development in experimental models Curr. Opin. Ophthalmol. 11:2000;421-429.
103. Guy J., Qi X., Muzyczka N., Hauswirth W.W. Reporter expression persists 1 year after adeno-associated virus-mediated transfer to the optic nerve. Arch. Ophthalmol. 117:1999;929-937.
104. Guy J., Qi X., Pallotti F., Schon E.A., Manfredi G., Carelli V., Martinuzzi A., Hauswirth W.W., Lewin A.S. Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy. Ann. Neurol. 52:2002;534-542.
105. Harley R.D., Huang N.N., Macri C.H., Green W.R. Optic neuritis and optic atrophy following chloramphenicol in cystic fibrosis patients. Trans. Am. Acad. Ophthalmol. Otolaryngol. 74:1970;1011-1031.
106. Hasegawa H., Matsuoka T., Goto Y., Nonaka I. Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Ann. Neurol. 29:1991;601-605.
107. Hayashi N., Geraghty M.T., Green W.R. Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome. Ophthalmology. 107:2000;1397-1402.
108. Hermann G.J., Thatcher J.W., Mills J.P., Hales K.G., Fuller M.T., Nunnari J., Shaw J.M. Mitochondrial fusion in yeast requires the transmembrane GTPase Fzo1p. J. Cell. Biol. 143:1998;359-373.
109. Hirano M. Transmitochondrial mice. proof of principle and promises Proc. Natl. Acad. Sci. USA. 98:2001;401-403.
110. Hofhaus G., Attardi G. Lack of assembly of mitochondrial DNA-encoded subunits of respiratory NADH dehydrogenase and loss of enzyme activity in a human cell mutant lacking the mitochondrial ND4 gene product. EMBO J. 12:1993;3043-3048.
111. Hofhaus G., Johns D.R., Hurko O., Attardi G., Chomyn A. Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy. J. Biol. Chem. 271:1996;13155-13161.
112. Hofman P., Hoyng P., vanderWerf F., Vrensen G.F.J.M., Schlingemann R.O. Lack of blood-brain barrier properties in microvessels of the prelaminar optic nerve head. Invest. Ophthalmol. Vis. Sci. 42:2001;895-901.
113. Hofmann S., Jaksch M., Bezold R., Mertens S., Aholt S., Paprotta A., Gerbitz K.D. 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. 6:1997;1835-1846.
114. Hollenbeck P.J. The pattern and mechanism of mitochondrial transport in axons. Front. Biosci. 1:1996;d91-d102.
115. Horner P.J., Gage F.H. Regeneration in the adult and aging brain. Arch. Neurol. 59:2002;1717-1720.
116. Horvath J., Horvath R., Karcagi V., Komoly S., Johns D.R. Sequence analysis of Hungarian LHON patients not carrying the common primary mutations. J. Inherit. Metab. Dis. 25:2002;323-324.
117. Howell N. Human mitochondrial diseases answering questions and questioning answers. Int. Rev. Cytol. 186:1999;49-116.
118. Howell N., Kubacka I., Xu M., McCullough D.A. Leber hereditary optic neuropathy. involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation Am. J. Hum. Genet. 48:1991;935-942.
119. Howell N., Bindoff L.A., McCullough D.A., Kubacka I., Poulton J., Mackey D., Taylor L., Turnbull D.M. Leber hereditary optic neuropathy. identification of the same mitochondrial ND1 mutation in six pedigrees Am. J. Hum. Genet. 49:1991;939-950.
120. Howell N., Halvorson S., Burns J., McCullough D.A., Poulton J. When does bilateral optic atrophy become Leber hereditary optic neuropathy? Am. J. Hum. Genet. 53:1993;959-963.
121. Howell N., Bogolin C., Jamieson R., Marenda D.R., Mackey D.A. mtDNA mutations that cause optic neuropathy. how do we know? Am. J. Hum. Genet. 62:1998;196-202.
122. Howell N., Oostra R.J., Bolhuis P.A., Spruijt L., Clarke L.A., Mackey D.A., Preston G., Herrnstadt C. Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy. Am. J. Hum. Genet. 72:2003;1460-1469.
123. Howell N., Herrnstadt C., Shults C., Mackey D.A. Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background. Am. J. Med. Genet. 119A:2003;147-151.
124. Hoyt W.F., Luis O. Visual fiber anatomy in the infrageniculate pathway of the primate. Arch. Ophthalmol. 68:1962;94-106.
125. Huoponen K., Vilkki J., Aula P., Nikoskelainen E.K., Savontaus M.-L. A new mtDNA mutation associated with Leber hereditary optic neuropathy. Am. J. Hum. Genet. 48:1991;1147-1153.
126. Huoponen K., Lamminen T., Juvonen V., Aula P., Nikoskelainen E., Savontaus M.L. The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy. Hum. Genet. 92:1993;379-384.
127. Inoue K., Nakada K., Ogura A., Isobe K., Goto Y., Nonaka I., Hayashi J.-I. Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nat. Genet. 26:2000;176-181.
128. Isashiki Y., Ohba N., Izumo S. Optic neuropathy and cerebellar ataxia associated with a rare missense variation (A14510G) of mitochondrial DNA. Br. J. Ophthalmol. 85:2001;1009-1010.
129. Jacobi F.K., Leo-Kottler B., Mittelviefhaus K., Zrenner E., Meyer J., Pusch C.M., Wissinger B. Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy. Invest. Ophthalmol. Vis. Sci. 42:2001;1208-1214.
130. Jacobson D.M., Stone E.M. Difficulty differentiating Leber's from dominant optic neuropathy in a patient with remote visual loss. J. Clin. Neuroophthalmol. 11:1991;152-157.
131. Johns D.R., Berman J. Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 174:1991;1324-1330.
132. Johns D.R., Neufeld M.J. Cytochrome b mutations in Leber hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 181:1991;1551-1557.
133. Johns D.R., Neufeld M.J. Cytochrome c oxidase mutations in Leber hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 196:1993;810-815.
134. Johns D.R., Neufeld M.J., Park R.D. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 187:1992;1551-1557.
135. Johnston P.B., Gaster R.N., Smith V.C., Tripathi R.C. A clinicopathologic study of autosomal dominant optic atrophy. Am. J. Ophthalmol. 88:1979;868-875.
136. Jun A.S., Brown M.D., Wallace D.C. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc. Natl. Acad. Sci. USA. 91:1994;6206-6210.
137. Jun A.S., Trounce I.A., Brown M.D., Shoffner J.M., Wallace D.C. Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH deydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. Mol. Cell. Biol. 16:1996;771-777.
138. Karu T. Primary and secondary mechanisms of action of visible to near-IR radiation on cells. J. Photochem. Photobiol. B. 49:1999;1-17.
139. Kaukonen J., Juselius J.K., Tiranti V., Kyttala A., Zeviani M., Comi G.P., Keranen S., Peltonen L., Suomalainen A. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science. 289:2000;782-785.
140. Kayser E.B., Hoppel C.L., Morgan P.G., Sedensky M.M. A mutation in mitochondrial complex I increases ethanol sensitivity in Caenorhabditis elegans. Alcohol Clin. Exp. Res. 27:2003;584-592.
141. Kerrigan L.A., Zack D.J., Quigley H.A., Smith S.D., Pease M.E. TUNEL-positive ganglion cells in human primary open-angle glaucoma. Arch. Ophthalmol. 115:1997;1031-1035.
142. Kerrison J.B., Howell N., Miller N.R., Hirst L., Green W.R. Leber hereditary optic neuropathy. Electron microscopy and molecular genetic analysis of a case. Ophthalmology. 102:1995;1509-1516.
143. Kerrison J.B., Arnould V.J., Ferraz Sallum J.M., Vagefi M.R., Barmada M.M., Li Y., Zhu D., Maumenee I.H. Genetic heterogeneity of dominant optic atrophy, Kjer type. identification of a second locus on chromosome 18q12.2-12.3 Arch. Ophthalmol. 117:1999;805-810.
144. Kerrison J.B., Miller N.R., Hsu F., Beaty T.H., Maumenee I.H., Smith K.H., Savino P.J., Stone E.M., Newman N.J. A case-control study of tobacco and alcohol consumption in Leber's hereditary optic neuropathy. Am. J. Ophthalmol. 130:2000;803-812.
145. Kim J.Y., Hwang J.M., Park S.S. Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis. Ann. Neurol. 51(5):2002;630-634.
146. King M.P., Attardi G. Human cells lacking mtDNA. repopulation with exogenous mitochondria by complementation Science. 246:1989;500-503.
147. Kirby D.M., Kahler S.G., Freckmann M.-L., Reddihough D., Thorburn D.R. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Ann. Neurol. 48:2000;102-104.
148. Kirby D.M., Boneh A., Chow C.W., Ohtake A., Ryan M.T., Thyagarajan D., Thorburn D.R. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh disease. Ann. Neurol. 54(4):2003;473-478.
149. Kjer P. Infantile optic atrophy with dominant mode of inheritance. a clinical and genetic study of 19 Danish families Acta Ophthalmol. Scand. 37(Suppl. 54):1959;1-146.
150. Kjer P., Jensen O.A., Klinken L. Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. Acta Ophthalmol. (Copenh). 61:1983;300-312.
151. Klein J.A., Longo-Guess C.M., Rossmann M.P., Seburn K.L., Hurd R.E.,
152. Klivenyi P., Karg E., Rozsa C., Horvath R., Komoly S., Nemeth I., Turi S., Vecsei L. α-Tocopherol/lipid ratio in blood is decreased in patients with Leber's hereditary optic neuropathy and asymptomatic carriers of the 11778 mtDNA mutation. J. Neurol. Neurosurg. Psychiatry. 70:2001;359-362.
153. Kluck R.M., Bossy-Wetzel E., Green D.R., Newmeyer D.D. The release of cytochrome c from mitochondria. a primary site for Bcl-2 regulation of apoptosis Science. 275:1997;1132-1136.
154. Kokoszka J.E., Coskun P., Esposito L., Wallace D.C. Increased mitochondrial oxidative stress in the Sod2+/- mouse results in the age-related decline of mitochondrial function culminating in increased apoptosis. Proc. Natl. Acad. Sci. USA. 98:2001;2278-2283.
155. Komaki H., Akanuma J., Iwata H., Takahashi T., Mashima Y., Nonaka I., Goto Y.-I. A novel mtDNA C11777A mutation in Leigh syndrome. Mitochondrion. 2:2003;293-304.
156. Kroemer G., Reed J.C. Mitochondrial control of cell death. Nat. Med. 6:2000;513-519.
157. Kupfer C., Chumbley L., Downer J. Quantitative histology of optic nerve optic tract and lateral geniculate nucleus of man. J. Anat. 101:1967;393-404.
158. Lamminen T., Majander A., Juvonen V., Wikstrom M., Aula P., Nikoskelainen E., Savontous M.L. A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy. Am. J. Hum. Genet. 56:1995;1238-1240.
159. Lamminen T., Huoponen K., Sistonen P., Juvonen V., Lahermo P., Aula P., Nikoskelainen E., Savontaus M.L. mtDNA haplotype analysis in Finnish families with Leber hereditary optic neuropathy. Eur. J. Hum. Genet. 5:1997;271-279.
160. Larsson N.-G. Leber hereditary optic neuropathy. a nuclear solution of a mitochondrial problem Ann. Neurol. 52:2002;529-530.
161. Larsson N.-G., Andersen O., Holme E., Oldfors A., Wahlstrom J. Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann. Neurol. 30:1991;701-708.
162. Larsson N.-G., Wang J., Wilhelmsson H., Oldfors A., Rustin P., Lewandoski M., Barsh G.S., Clayton D.A. Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice. Nat. Genet. 18:1998;231-236.
163. Leber T. Uber hereditare und congenital-angelegte Sehnervenleiden. Arch. Ophthalmol. 17:1871;249-291.
164. Lebovitz R.M., Zhang H., Vogel H., Cartwright J. Jr., Dionne L., Lu N., Huang S., Matzuk M.M. Neurodegeneration, myocardial injury, and perinatal death in mitochondrial superoxide dismutase-deficient mice. Proc. Natl. Acad. Sci. USA. 93:1996;9782-9787.
165. Leo-Kottler B., Luberichs J., Besch D., Christ-Adler M., Fauser S. Leber's hereditary optic neuropathy. clinical and molecular genetic results in a patient with a point mutation at npT11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery Graefes Arch. Clin. Exp. Opthalmol. 240(9):2002;758-764.
166. Levin L.A., Louhab A. Apoptosis of retinal ganglion cells in anterior ischemic optic neuropathy. Arch. Ophthalmol. 114:1996;488-491.
167. Li H., Wang J., Wilhelmsson H., Hansson A., Thoren P., Duffy J., Rustin P., Larsson N.-G. Genetic modification of survival in tissue-specific knockout mice with mitochondrial cardiomyopathy. Proc. Natl. Acad. Sci. USA. 97:2000;3467-3472.
168. Li P., Nijhawan D., Budihardjo I., Srinivasula S.M., Ahmad M., Alnemri E.S., Wang X. Cytochrome c and dATP-dependent formation of Apaf-1/caspase-9 complex initiate an apoptotic protease cascade. Cell. 91:1997;479-489.
169. Li Y., Huang T.-T., Carlson E.J., Melov S., Ursell P.C., Olson J.L., Noble L.J., Yoshimura M.P., Berger C., Chan P.H., Wallace D.C., Epstein C.J. Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase. Nat. Genet. 11:1995;376-381.
170. Lin X.H., Kashima Y., Kahn M., Heller K.B., Gu X.Z., Sadun A.A. An immunohistochemical study of TNF alpha in optic nerves from AIDS patients. Curr. Eye Res. 16:1997;1064-1068.
171. Liolitsa D., Rahman S., Benton S., Carr L.J., Hanna M.G. Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? Ann. Neurol. 53:2003;128-132.
172. Liu B., Neufeld A.H. Expression of nitric oxide synthase-2 (NOS-2) in reactive astrocytes of the human glaucomatous optic nerve head. Glia. 30:2000;178-186.
173. Liu X., Kim C.N., Yang J., Jemmerson R., Wang X. Induction of apoptotic program in cell-free extracts. requirement for dATP and cytochrome c Cell. 86:1996;147-157.
174. Livingstone M.S., Hubel D.H. Psychophysical evidence for separate channels for the perception of form, color movement, and depth. J. Neurosci. 7:1987;3416-3468.
175. Lodi R., Taylor D.J., Tabrizi S.J., Kumar S., Sweeney M., Wood N.W., Styles P., Radda G.K., Schapira A.H. In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by 31P magnetic resonance spectroscopy. Ann. Neurol. 42:1997;573-579.
176. Lodi R., Montagna P., Cortelli P., Iotti S., Cevoli S., Carelli V., Barbiroli B. "Secondary" 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation. Brain. 123:2000;1896-1902.
177. Luberichs J., Leo-Kottler B., Besch D., Fauser S. A mutational hot spot in the mitochondrial ND6 gene in patients with Leber's hereditary optic neuropathy. Graefes Arch. Clin. Exp. Ophthalmol. 240:2002;96-100.
178. Ludwin S.K. Pathology of the myelin sheath. Waxman S.G., Kocsis J.D., Stys P.K. The Axon: Structure, Function and Pathophysiology. 1995;412-437 Oxford University Press, Oxford.
179. 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. 51:1992;1218-1228.
180. Mackey D.A. Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy. Eye. 8:1994;431-436.
181. Mackey D.A., Fingert J.H., Luzhansky J.Z., McCluskey P.J., Howell N., Hall A.J., Pierce A.B., Hoy J.F. Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus. Eye. 17:2003;312-317.
182. Macmillan C., Johns T.A., Fu K., Shoubridge E.A. Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect. Am. J. Hum. Genet. 66:2000;332-335.
183. Madigan M.C., Sadun A.A., Rao N.S., Dugel P.U., Tenhula W.N., Gill P.S. Tumor necrosis factor-alpha (TNF)-induced optic neuropathy in rabbits. Neurol. Res. 18:1996;176-184.
184. Majander A., Huoponen K., Savontaus M.-L., Nikoskelainen E., Wikstrom M. 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. 292:1991;289-292.
185. Majander A., Finel M., Savontaus M.-L., Nikoskelainen E., Wikstrom M. Catalytic activity of complex I in cell lines that possess replacement mutations in the ND genes in Leber's hereditary optic neuropathy. Eur. J. Biochem. 239:1996;201-207.
186. Man P.Y., Brown D.T., Wehnert M.S., Zeviani M., Carrara F., Turnbull D.M., Chinnery P.F. NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy. Neurology. 58:2002;1861-1862.
187. Man P.Y., Griffiths P.G., Brown D.T., Howell N., Turnbull D.M., Chinnery P.F. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am. J. Hum. Genet. 72:2003;333-339.
188. Manfredi G., Fu J., Ojaimi J., Sadlock J.E., Kwong J.Q., Guy J., Schon E.A. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Nat. Genet. 30:2002;394-399.
189. Manfredi G., Kwong J.Q., Oca-Cossio J.A., Woischnik M., Gajewski C.D., Martushova K., D'Aurelio M., Friedlich A L., Moraes C.T. BCL-2 improves oxidative phosphorylation and modulates adenine nucleotide translocation in mitochondria of cells harboring mutant mtDNA. J. Biol. Chem. 278:2003;5639-5645.
190. Mashima Y., Kigasawa K., Wakakura M., Oguchi Y. Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy? J. Neuroophthalmol. 20:2000;166-170.
191. Mashima Y., Kimura I., Yamamoto Y., Ohde H., Ohtake Y., Tanino T., Tomita G., Oguchi Y. Optic disc excavation in the atrophic stage of Leber's hereditary optic neuropathy. comparison with normal tension glaucoma Graefes Arch. Clin. Exp. Ophthalmol. 241:2003;75-80.
192. Matsumoto M., Hayasaka S., Kadoi C., Hotta Y., Fujiki K., Fujimaki T., Takeda M., Ishida N., Endo S., Kanai A. Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy. Ophthalmol. Genet. 20:1999;153-160.
193. Mattiazzi M., D'Aurelio M., Gajewski C.D., Martushova K., Kiaei M., Beal M.F., Manfredi G. Mutated human SOD1 causes dysfunction of oxidative phosphorylation in mitochondria of transgenic mice. J. Biol. Chem. 277:2002;29626-92633.
194. May C.A., Lutjen-Drecoll E. Morphology of the murine optic nerve. Invest. Ophthalmol. Vis. Sci. 43:2002;2206-2212.
195. Mayer B., Oberbauer R. Mitochondrial regulation of apoptosis. News Physiol. Sci. 18:2003;89-94.
196. McKechnie N.M., King M., Lee W.R. Retinal pathology in the Kearns-Sayre syndrome. Br. J. Ophthalmol. 69:1985;63-75.
197. Melov S. Therapeutics against mitochondrial oxidative stress in animal models of aging. Ann. NY Acad. Sci. 959:2002;330-340.
198. Melov S., Schneider J.A., Day B.J., Hinerfeld D., Coskun P., Mirra S.S., Crapo J.D., Wallace D.C. A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase. Nat. Genet. 18:1998;159-163.
199. Melov S., Coskun P., Patel M., Tuinstra R., Cottrell B., Jun A.S., Zastawny T.H., Dizdaroglu M., Goodman S.I., Huang T.T., Miziorko H., Epstein C.J., Wallace D.C. Mitochondrial disease in superoxide dismutase 2 mutant mice. Proc. Natl. Acad. Sci. USA. 96:1999;846-851.
200. Minckler D.S., McLean I.W., Tso M.O. Distribution of axonal and glial elements in the rhesus optic nerve head studied by electron microscopy. Am. J. Ophthalmol. 82:1976;179-187.
201. Miramar M.D., Costantini P., Ravagnan L., Saraiva L.M., Haouzi D., Brothers G., Penninger J.M., Peleato M.L., Kroemer G., Susin S.A. NADH-oxidase activity of mitochondrial apoptosis-inducing factor. J. Biol. Chem. 276:2001;16391-16398.
202. Misaka T., Miyashita T., Kubo Y. Primary structure of a dynamin-related mouse mitochondrial GTPase and its distribution in brain, subcellular localization and effect on mitochondrial morphology. J. Biol. Chem. 277:2002;15834-15842.
203. Mitchell P. Coupling of phosphorylation to electron and hydrogen transfer by chemiosomotic type of mechanism. Nature. 191:1961;144-148.
204. Morris R.L., Hollenbeck P.J. Axonal transport of mitochondria along microtubules and F-actin in living vertebrate neurons. J. Cell Biol. 131:1995;1315-1326.
205. Mutsaers S.E., Carroll W.M. Focal accumulation of intra-axonal mitochondria in demyelination of the cat optic nerve. Acta Neuropathol. (Berlin). 96:1998;139-143.
206. Nakada K., Inoue K., Ono T., Isobe K., Ogura A., Goto Y., Nonaka I., Hayashi J.-I. Inter-mitochondrial complementation. mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA Nat. Med. 7:2001;934-940.
207. Napoli L., Bordoni A., Zeviani M., Hadjigeorgiou G.M., Sciacco M., Tiranti V., Terentiou A., Moggio M., Papadimitriou A., Scarlato G., Comi G.P. A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. Neurology. 57:2001;2295-2298.
208. Nass S., Nass M.M.K. Ultramitochondrial fibers with DNA characteristics. J. Cell. Biol. 19:1963;593-629.
209. Neufeld A.H., Sawada A., Becker B. Inhibition of nitric-oxide synthase 2 by aminoguanidine provides neuroprotection of retinal ganglion cells in a rat model of chronic glaucoma. Proc. Natl. Acad. Sci. USA. 96:1999;9944-9948.
210. Newman N.J. Leber's optic neuropathy. Miller N.R., Newman N.J. Walsh and Hoyt's Clinical Neuro-Ophthalmology. 1998;742-753 Williams & Wilkins, Baltimore.
211. Newman N.J. Dominant optic atrophy. Miller N.R., Newman N.J. Walsh and Hoyt's Clinical Neuro-Ophthalmology. 1998;753-756 Williams & Wilkins, Baltimore.
212. Newman N.J., Lott M.T., Wallace D.C. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am. J. Ophthalmol. 111:1991;750-762.
213. Newman-Toker D.E., Horton J.C., Lessell S. Recurrent visual loss in Leber hereditary optic neuropathy. Arch. Ophthalmol. 121:2003;288-291.
214. Nicholls P. Formate as an inhibitor of cytochrome c oxidase. Biochem. Biophys. Res. Commun. 67:1975;610-616.
215. Nicholls P. The effect of formate on cytochrome aa3 and on electron transport in the intact respiratory chain. Biochem. Biophys. Acta. 430:1976;13-29.
216. Nikoskelainen E.K. Clinical picture of LHON. Clin. Neurosci. 2:1994;115-120.
217. Nikoskelainen E., Hoyt W.F., Nummelin K. Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members. Arch. Ophthalmol. 100:1982;1597-1602.
218. Nikoskelainen E., Hoyt W.F., Nummelin K. Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in affected family members. Arch. Ophthalmol. 101:1983;1059-1068.
219. Nikoskelainen E., Hoyt W.F., Nummelin K., Schatz H. Fundus findings in Leber's hereditary optic neuropathy. III. Fluorescein angiographic studies. Arch. Ophthalmol. 102:1984;981-989.
220. Nikoskelainen E.K., Savontaus M.-L., Wanne O.P., Katila M.J., Nummelin K.U. Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study of four pedigrees. Arch. Ophthalmol. 105:1987;665-671.
221. Nikoskelainen E.K., Marttila R.J., Huoponen K., Juvonen V., Lamminen T., Sonninen P., Savontaus M.L. Leber's "plus" neurological abnormalities in patients with Leber's hereditary optic neuropathy J. Neurol. Neurosurg. Psychiatry. 59:1995;160-164.
222. Nikoskelainen E.K., Huoponen K., Juvonen V., Lamminen T., Nummelin K., Savontaus M.L. Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology. 103:1996;504-514.
223. Nishino I., Spinazzola A., Papadimitriou A., Hammans S., Steiner I., Hahn C.D., Connolly A.M., Verloes A., Guimaraes J., Maillard I., Hamano H., Donati M.A., Semrad C.E., Russell J.A., Andreu A.L., Hadjigeorgiou G.M., Vu T.H., Tadesse S., Nygaard T.G., Nonaka I., Hirano I., Bonilla E., Rowland L.P., DiMauro S., Hirano M. Mitochondrial neurogastrointestinal encephalomyopathy. an autosomal recessive disorder due to thymidine phosphorylase mutations Ann. Neurol. 47:2000;792-800.
224. Nishino I., Spinazzola A., Hirano M. MNGIE. from nuclear DNA to mitochondrial DNA Neuromuscul. Disord. 11:2001;7-10.
225. Nishioka T., Tasaki M., Soemantri A., Dyat M., Susanto J.C., Tamam M., Sudarmanto B., Ishida T. Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia. J. Hum. Genet. 48:2003;385-389.
226. Ochs S., Hollingsworth D. Dependence of fast axoplasmic transport in nerve on oxidative metabolism. J. Neurochem. 18:1971;107-114.
227. Oexle K., Zwirner A. Advanced telomere shortening in respiratory chain disorders. Hum. Mol. Genet. 6:1997;905-908.
228. Ogden T.E. Nerve fiber layer of the owl monkey retina. retinotopic organization Invest. Ophthalmol. Vis. Sci. 24:1983;265-269.
229. Olichon A., Emorine L.J., Descoins E., Pelloquin L., Brichese L., Gas N., Guillou E., Delettre C., Valette A., Hamel C.P., Ducommun B., Lenaers G., Belenguer P. The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inner-membrane space. FEBS Lett. 523:2002;171-176.
230. Olichon A., Baricault L., Gas N., Guillou E., Valette A., Belenguer P., Lenaers G. Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. J. Biol. Chem. 278:2003;7743-7746.
231. Oostra R.J., Bolhuis P.A., Wijburg F.A., Zorn-Ende G., Bleeker-Wagemakers E.M. Leber's hereditary optic neuropathy. correlations between mitochondrial genotype and visual outcome J. Med. Genet. 31:1994;280-286.
232. Oostra R.J., Kemp S., Bolhuis P.A., Bleeker-Wagemakers E.M. No evidence for "skewed" inactivation of the X chromosome as cause of Leber's hereditary optic neuropathy in female carriers. Hum. Genet. 97:1996;500-505.
233. Opial D., Boehnke M., Tadesse S., Lietz-Partzsch A., Flammer J., Munier F., Mermoud A., Hirano M., Fluckiger F., Mojon D.S. Leber's hereditary optic neuropathy mitochondrial DNA mutations in normal-tension glaucoma. Graefes Arch. Clin. Exp. Ophthalmol. 239:2001;437-440.
234. Ortiz R.G., Newman N.J., Manoukian S.V., Diesenhouse M.C., Lott M.J., Wallace D.C. Optic disk cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy. Am. J. Ophthalmol. 113:1992;561-566.
235. Owen R. IV, Lewin A.P., Peel A., Wang J., Guy J., Hauswirth W.W., Stacpoole P.W., Flotte T.R. Recombinant adeno-associated virus vector-based gene transfer for defects in oxidative metabolism. Hum. Gene Ther. 11:2000;2067-2078.
236. Ozden S., Duzcan F., Wollnik B., Cetin O.G., Sahiner T., Bayramoglu I., Yuksel-Apak M., Bagci H. Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family. Ophthalmic Genet. 23:2002;29-36.
237. Pardue, M.T., Barnett, T., Phillips, M.J., Biousse, V., Allard, P., Newman, N.J., Wallace, D.C., 2002. Ocular characteristics of a mouse model of mitochondrial disease [ARVO Abstract #1775]. Invest. Ophthalmol. Vis. Sci.
238. Pegoraro E., Carelli V., Zeviani M., Cortelli P., Montagna P., Barboni P., Angelini C., Hoffman E.P. X-inactivation pattern in female LHON (Leber's hereditary optic neuropathy) patients do not support a strong X-linked determinant. Am. J. Med. Genet. 61:1996;356-362.
239. Pegoraro E., Vettori A., Valentino M.L., Molon A., Mostacciuolo M.L., Howell N., Carelli V. X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patients. Am. J. Med. Genet. 119:2003;37-40.
240. Pelloquin L., Belenguer P., Menon Y., Ducommun B. Identification of a fission yeast dynamin-related protein involved in mitochondrial DNA maintenance. Biochem. Biophys. Res. Commun. 251:1998;720-726.
241. Pesch U.E.A., Leo-Kottler B., Mayer S., Jurklies B., Kellner U., Apfelstedt-Sylla E., Zrenner E., Alexander C., Wissinger B. OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Hum. Mol. Genet. 10:2001;1359-1368.
242. Pezzi P.P., De Negri A.M., Sadun F., Carelli V., Leuzzi V. Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery. Pediatr. Neurol. 19:1998;308-312.
243. Polyak S.L. The Retina. 1941;The University of Chicago Press, Chicago.
244. Pulkes T., Eunson L., Patterson V., Siddiqui A., Wood N.W., Nelson I.P., Morgan-Hughes J.A., Hanna M.G. The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS. Ann. Neurol. 46:1999;916-919.
245. Qi X., Lewin A.S., Hauswirth W.W., Guy J. Optic neuropathy induced by reductions in mitochondrial superoxide dismutase. Invest. Ophthalmol. Vis. Sci. 44:2003;1088-1096.
246. Qi X., Lewin A.S., Hauswirth W.W., Guy J. Suppression of complex I gene expression induces optic neuropathy. Ann. Neurol. 53:2003;198-205.
247. Raichle M.E., Gusnard D.A. Appraising the brain's energy budget. Proc. Natl. Acad. Sci. USA. 99:2002;10237-10239.
248. Ranger A.M., Malynn B.A., Korsmeyer S.J. Mouse models of cell death. Nat. Genet. 28:2001;113-118.
249. Ravagnan L., Roumier T., Kroemer G. Mitochondria, the killer organelles and their weapons. J. Cell. Physiol. 192:2002;131-137.
250. Rawanduzy A., Hansen A., Hansen T.W., Nedergaard M. Effective reduction of infarct volume by gap junction blockade in a rodent model of stroke. J. Neurosurg. 87:1997;916-920.
251. Redford E.J., Kapoor R., Smith K.J. Nitric oxide donors reversibly block axonal conduction. demyelinated axons are especially susceptible Brain. 120:1997;2149-2157.
252. Redmill B., Mutamba A., Tandon M. Leber's hereditary optic neuropathy following trauma. Eye. 15:2001;544-547.
253. Riobo N.A., Clementi E., Melani M., Boveris A., Cadenas E., Moncada S., Poderoso J.J. Nitric oxide inhibits mitochondrial NADH. ubiquinone reductase activity through peroxynitrite formation Biochem. J. 359:2001;139-145.
254. Riordan-Eva P., Sanders M.D., Govan G.G., Sweeney M.G., Da Costa J., Harding A.E. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain. 118:1995;319-337.
255. 2+ responses. Science. 280:1998;1763-1766.
256. Robinson B.H., Petrova-Benedict R., Buncic J.R., Wallace D.C. Nonviability of cells with oxidative defects in galactose medium. a screening test for affected patient fibroblasts Biochem. Med. Metab. Biol. 48:1992;122-126.
257. Rojo M., Legros F., Chateau D., Lombes A. Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo. J. Cell Sci. 115:2002;1663-1674.
258. Ross-Cisneros, F.N., Win, P.H., Carelli, V., Sadun, A.A., 2001. Vascular abnormalities in optic nerves from two cases of Leber's hereditary optic neuropathy [ARVO Abstract #3361]. Invest. Ophthalmol. Vis. Sci.
259. Ross-Cisneros, F.N., Aguirre, N., Manfredi, G., Walker, S.O., Cruz, M.M., Sadun, A.A., Carelli, V., 2002. Chloramphenicol-induced retinal degeneration mimics Kearn-Sayre and NARP syndromes in mice: a model for mitochondrial retinal disease [ARVO Abstract #232]. Invest. Ophthalmol. Vis. Sci.
260. Rotig A., de Lonlay P., Chretien D., Foury F., Koenig M., Sidi D., Munnich A., Rustin P. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat. Genet. 17:1997;215-217.
261. Rustin P., Rotig A. Inborn errors of complex II - unusual human mitochondrial diseases. Biochim. Biophys. Acta. 1553:2002;117-122.
262. Sabri M.I., Ochs S. Relation of ATP and creatine phosphate to fast axoplasmic transport in mammalian nerve. J. Neurochem. 19:1972;2821-2828.
263. Sadun A.A. Neuroanatomy of the human visual system: Part I. Retinal projections to the LGN and pretectum as demonstrated with a new stain. Neuroophthalmology. 6:1986;353-361.
264. Sadun A.A. Dyslexia at the New York Times. (mis)understanding of parallel visual processing Arch. Ophthalmol. 110:1992;933-934.
265. Sadun A.A. Acquired mitochondrial impairment as a cause of optic nerve disease. Trans. Am. Ophthalmol. Soc. 96:1998;881-923.
266. Sadun, A.A., 1998b. The Afferent Visual System: Anatomy and Physiology in Ophthalmology. Yanoff & Dukar, London, UK, pp. 11-2.1-11-2.4.
267. Sadun A.A. Optic neuropathies and retinal ganglion cell death. Neuroophthalmology. 24:2000;387-394.
268. Sadun A.A. Mitochondrial optic neuropathies. J. Neurol. Neurosurg. Psychiatry. 72:2002;423-425.
269. Sadun A.A., Bassi C.J. The visual system in Alzheimer's Disease. Publ. Assoc. Res. Nerv. Ment. Dis. 67:1990;331-347.
270. Sadun A.A., Johnson B.M., Smith L.E.H. Neuroanatomy of the human visual system: Part II. Retinal projections to the superior colliculus and pulvinar. Neuroophthalmology. 6:1986;363-370.
271. Sadun A.A., Johnson B.M., Schaechter J. Neuroanatomy of the human visual system: Part III. Three retinal projections to the hypothalamus. Neuroophthalmology. 6:1986;371-379.
272. Sadun A.A., Kashima Y., Wurdeman A.E., Dao J., Heller K., Sherman J. Morphological findings in the visual system in a case of Leber's hereditary optic neuropathy. Clin. Neurosci. 2:1994;165-172.
273. Sadun A.A., Win P.H., Ross-Cisneros F.N., Walker S.O., Carelli V. Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve. Trans. Am. Ophthalmol. Soc. 98:2000;223-232.
274. Sadun A.A., Carelli V., Bose S., Ross-Cisneros F.N., Barboni P., Ahrens E.T. First application of extremely high-resolution magnetic resonance imaging to study microscopic features of normal and LHON human optic nerve. Ophthalmology. 109:2002;1085-1091.
275. Sadun A.A., Carelli V., Salomao S.R., Berezovsky A., Quiros P.A., Sadun F., DeNegri A.-M., Andrade R., Moraes M., Passos A., Kjaer P., Pereira J., Valentino M.L., Schein S., Belfort R. Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy. Am. J. Ophthalmol. 136:2003;231-238.
276. Sakuta R., Nonaka I. Vascular involvement in mitochondrial myopathy. Ann. Neurol. 25:1989;594-601.
277. Salmaggi A., Carrara F., Zeviani M. Remarkable recovery of visual function in a patient with Leber's optic neuropathy and multiple mutations of mitochondrial DNA. Int. J. Neurosci. 77:1994;261-266.
278. Sanchez I., Hassinger L., Paskevich P.A., Shine H.D., Nixon R.A. Oligodendroglia regulate the regional expansion of axonal caliber and local accumulation of neurofilaments during development independently of myelin formation. J. Neurosci. 16:1996;5095-5105.
279. Sandbach J.M., Coscun P.E., Grossniklaus H.E., Kokoszka J.E., Newman N.J., Wallace D.C. Ocular pathology in mitochondrial superoxide dismutase (Sod2)-deficient mice. Invest. Ophthalmol. Vis. Sci. 42:2001;2173-2178.
280. Santel A., Fuller M.T. Control of mitochondrial morphology by a human mitofusin. J. Cell. Sci. 114:2001;867-874.
281. Santorelli F.M., Tanji K., Kulikova R., Shanske S., Vilarinho L., Hays A.P., DiMauro S. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem. Biophys. Res. Commun. 238:1997;326-328.
282. Satoh M., Hamamoto T., Seo N., Kagawa Y., Endo H. Differential sublocalization of the dynamin-related protein OPA1 isoforms in mitochondria. Biochem. Biophys. Res. Commun. 300:2003;482-493.
283. Schmidt M., Giessl A., Laufs T., Hankeln T., Wolfrum U., Burmester T. How does the eye breathe? Evidence for neuroglobin-mediated oxygen supply in the mammalian retina. J. Biol. Chem. 278:2003;1932-1935.
284. Seo B.B., Kitajima-Ihara T., Chan E.K.L., Scheffler I.E., Matsuno-Yagi A., Yagi T. Molecular remedy of complex I defects. rotenone-insensitive internal NADH-quinone oxidoreductase of Saccharomyces cervisiae mitochondria restores the NADH oxidase activity of complex I - deficient mammalian cells Proc. Natl. Acad. Sci. USA. 95:1998;9167-9171.
285. Shapley R., Perry V.H. Cat and monkey retinal ganglion cells and their visual functional roles. Trends Neurosci. 9:1986;229-235.
286. Shoffner J.M., Brown M.D., Stugard C., Jun A.S., Pollock S., Haas R.H., Kaufman A., Koontz D., Kim Y., Graham J.R., Smith E., Dixon J., Wallace D.C. Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. Ann. Neurol. 38:1995;163-169.
287. Shoubridge E.A. Cytochrome c oxidase deficiency. Am. J. Med. Genet. 106:2001;46-52.
288. Shulman R.G., Hyder F., Rothman D.L. Cerebral metabolism and consciousness. Crit. Rev. Biol. 326:2003;253-273.
289. Silva J.P., Kohler M., Graff C., Oldfors A., Magnuson M.A., Berggren P.-O., Larsson N.-G. Impaired insulin secretion and β-cell loss in tissue-specific knockout mice with mitochondrial diabetes. Nat. Genet. 26:2000;336-340.
290. Sligh J.E., Levy S.E., Waymire K.G., Allard P., Dillehay D.L., Nusinowitz S., Heckenlively J.R., MacGregor G.R., Wallace D.C. Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice. Proc. Natl. Acad. Sci. USA. 97:2000;14461-14466.
291. Smeitink J., van den Heuvel L., DiMauro S. The genetics and pathology of oxidative phosphorylation. Nat. Rev. Genet. 2:2001;342-352.
292. Smirnova E., Shurland D.-L., Ryazantsev S.N., van der Bliek A.M. A human dynamin-related protein controls the distribution of mitochondria. J. Cell. Biol. 143:1998;351-358.
293. Smith J.L., Hoyt W.F., Susac J.O. Ocular fundus in acute Leber optic neuropathy. Arch. Ophthalmol. 90:1973;349-354.
294. Smith K.J., Kapoor R., Felts P.A. Demyelination. the role of reactive oxygen and nitrogen species Brain Pathol. 9:1999;69-92.
295. Smith P.R., Cooper J.M., Govan G.G., Harding A.E., Schapira A.H.V. Platelet mitochondrial function in Leber' s hereditary optic neuropathy. J. Neurol. Sci. 122:1994;80-83.
296. Smith R.E., Sadun A.A. Clearing the cornea with nerve growth factor. N. Engl. J. Med. 338:1998;1222-1223.
297. Stewart V.C., Sharpe M.A., Clark .J.B., Heales S.J.R. Astrocyte-derived nitric oxide causes both reversible and irreversible damage to the neuronal mitochondrial respiratory chain. J. Neurochem. 75:2000;694-700.
298. Stokely M.E., Brady S.T., Yorio T. Effects of endothelin-1 on components of anterograde axonal transport in optic nerve. Invest. Ophthalmol. Vis. Sci. 43:2002;3223-3230.
299. Stone E.M., Newman N.J., Miller N.R., Johns D.R., Lott M.T., Wallace D.C. Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. J. Clin. Neuroophthalmol. 12:1992;10-14.
300. Stowers R.S., Megeath L.J., Gorska-Andrzejak J., Meinertzhagen I.A., Schwarz T.L. Axonal transport of mitochondria to synapses depends on Milton, a novel Drosophila protein. Neuron. 36:2002;1063-1077.
301. Tatton W.G., Chalmers-Redman R.M.E., Sud A., Podos S.M., Mittag T.W. Maintaining mitochondrial membrane impermeability. an opportunity for a new therapy in glaucoma? Surv. Ophthalmol. 45:2001;S277-S283.
302. Thiselton D.L., Alexander C., Taanman J.-W., Brooks S., Rosenberg T., Eiberg H., Andreasson S., Van Regemorter N., Munier F.L., Moore A.T., Bhattacharya S.S., Votruba M. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Invest. Ophthalmol. Vis. Sci. 43:2002;1715-1724.
303. Toomes C., Marchbank N.J., Mackey D.A., Craig J.E., Newbury-Ecob R.A., Bennett C.P., Vize C.J., Desai S.P., Black G.C.M., Patel N., Teimory M., Markham A.F., Inglehearn C.F., Churchill A.J. Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum. Mol. Genet. 10:2001;1369-1378.
304. Torroni A., Carelli V., Petrozzi M., Terracina M., Barboni P., Malpassi P., Wallace D.C., Scozzari R. Detection of the mtDNA 14484 mutation on an African-specific haplotype. implications about its role in causing Leber hereditary optic neuropathy Am. J. Hum. Genet. 59:1996;248-252.
305. Torroni A., Petrozzi M., D'Urbano 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 the primary mutations 11778 and 14484. Am. J. Hum. Genet. 60:1997;1107-1121.
306. Tsao K., Aitken P.A., Johns D.R. Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy. Br. J. Ophthalmol. 83:1999;577-581.
307. Valentino M.L., Avoni P., Barboni P., Pallotti F., Rengo C., Torroni A., Bellan M., Baruzzi A., 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.
308. van der Walt J.M., Nicodemus K.K., Martin E.R., Scott W.K., Nance M.A., Watts R.L., Hubble J.P., Haines J.L., Koller W.C., Lyons K., Pahwa R., Stern M.B., Colcher A., Hiner B.C., Jankovic J., Ondo W.G., Allen F.H. Jr., Goetz C.G., Small G.W., Mastaglia F., Stajich J.M., McLaurin A.C., Middleton L.T., Scott B.L., Schmechel D.E., Pericak-Vance M.A., Vance J.M. Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am. J. Hum. Genet. 72:2003;804-811.
309. Van Remmen H., Salvador C., Yang H., Huang T.T., Epstein C.J., Richardson A. Characterization of the antioxidant status of the heterozygous manganese superoxide dismutase mouse. Arch. Biochem. Biophys. 363:1999;91-97.
310. Vergani L., Martinuzzi A., Carelli V., Cortelli P., Montagna P., Schievano G., Carrozzo R., Angelini C., Lugaresi E. mtDNA mutations associated with Leber's hereditary optic neuropathy. studies on cytoplasmic hybrid (cybrid) cells Biochem. Biophys. Res. Commun. 210:1995;880-888.
311. Von Graefe A. Ein ungewõhnlicher Fall von hereditarer Amaurose. Arch. Ophthalmol. 4:1858;266-268.
312. Votruba M., Moore A.T., Bhattacharya S.S. Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. J. Med. Genet. 35:1998;793-800.
313. Votruba M., Thiselton D., Bhattacharya S.S. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. Br. J. Ophthalmol. 87:2003;48-53.
314. Vrabec J.P., Lieven C.J., Levin L.A. Cell-type-specific opening of the retinal ganglion cell mitochondrial permeability transition pore. Invest. Ophthalmol. Vis. Sci. 44:2003;2774-2782.
315. Waldmeier P.C. Prospects for antiapoptotic drug therapy of neurodegenerative diseases. Prog. Neuropsychopharmacol. Biol. Psychiatry. 27:2003;303-321.
316. Walker J.E. The NADH. ubiquinone oxidoreductase (complex I) of respiratory chain Q. Rev. Biophys. 25:1992;253-324.
317. Wall M., Sadun A.A. New Methods of Sensory Visual Testing. 1989;Springer, New York.
318. Wakakura M., Hayashi E., Toyo-oka Y., Yamabe H., Wada C., Ohtani H.,
319. Wallace D.C. A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance. Brain. 93:1970;121-132.
320. Wallace D.C. Mitochondrial diseases in man and mouse. Science. 283:1999;1482-1488.
321. Wallace D.C. Mouse models for mitochondrial disease. Am. J. Med. Genet. 106:2001;71-93.
322. Wallace D.C., Singh G., Lott M.T., Hodge J.A., Schurr T.G., Lezza A.M., Elsas L.J., Nikoskelainen E.K. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 242:1988;1427-1430.
323. Wallace D.C., Brown M.D., Lott M.T. Mitochondrial DNA variation in human evolution and disease. Gene. 238:1999;211-230.
324. Wang J., Wilhelmsson H., Graff C., Li H., Oldfors A., Rustin P., Bruning J.C., Kahn C.R., Clayton D.A., Barsh G.S., Thoren P., Larsson N.G. Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. Nat. Genet. 21:1999;133-137.
325. Wang L., Dong J., Cull G., Fortune B., Cioffi G.A. Varicosities of intraretinal ganglion cell axons in human and nonhuman primates. Invest. Ophthalmol. Vis. Sci. 44:2003;2-9.
326. Warner J.E., Ries K.M. Optic neuropathy in a patient with AIDS. J. Neuroophthalmol. 21:2001;92-94.
327. Waxman S.G. Prerequisites for conduction in demyelinated fibers. Neurology. 28:1978;27-33.
328. Weiner N.C., Newman N.J., Lessell S., Johns D.R., Lott M.T., Wallace D.C. Atypical Leber's hereditary optic neuropathy with molecular confirmation. Arch. Neurol. 50:1993;470-473.
329. Wheeler L., WoldeMussie E., Lai R. Role of alpha-2 agonists in neuroprotection. Surv. Ophthalmol. 48:2003;S47-S51.
330. Williams M.D., Van Remmen H., Conrad C.C., Huang T.T., Epstein C.J., Richardson A. Increased oxidative damage is correlated to altered mitochondrial function in heterozygous manganese superoxide dismutase knockout mice. J. Biol. Chem. 273:1998;28510-28515.
331. Wissinger B., Besch D., Baumann B., Fauser S., Christ-Adler M., Jurklies B., Zrenner E., Leo-Kottler B. Mutation analysis of the ND6 gene in patients with Leber's hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 234:1997;511-515.
332. Witt A., Brady S.T. Unwrapping new layers of complexity in axon/glial relationships. Glia. 29:2000;112-117.
333. Wong A., Cortopassi G. mtDNA mutations confer cellular sensitivity to oxidant stress that is partially rescued by calcium depletion and cyclosporin A. Biochem. Biophys. Res. Commun. 239:1997;139-145.
334. Wong A., Yang J., Cavadini P., Gellera C., Lonnerdal B., Taroni F., Cortopassi G. The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis. Hum. Mol. Genet. 8:1999;425-430.
335. Wong A., Cavelier .L., Collins-Schramm H.E., Seldin M.F., McGrogan M., Savontaus M.L., Cortopassi G.A. Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells. Hum. Mol. Genet. 11:2002;431-438.
336. Wong-Riley M.T., Bai X., Buchmann E., Whelan H.T. Light-emitting diode treatment reverses the effect of TTX on cytochrome oxidase in neurons. Neuroreport. 12:2001;3033-3037.
337. Wredenberg A., Wibom R., Wilhelmsson H., Graff C., Wiener H.H., Burden S.J., Oldfors A., Westerblad H., Larsson N.-G. Increased mitochondrial mass in mitochondrial myopathy mice. Proc. Natl. Acad. Sci. 99:2002;15066-15071.
338. Yamada K., Mashima Y., Kigasawa K., Miyashita K., Wakakura M., Oguchi Y. High incidence of visual recovery among four Japanese patients with Leber's hereditary optic neuropathy with the 14484 mutation. J. Neuroophthalmol. 17:1997;103-107.
339. Yamada K., Oguchi Y., Hotta Y., Nakamura M., Isashiki Y., Mashima Y. Multicenter study on the frequency of three primary mutations of mitochondial DNA in Japanese pedigrees with Leber's hereditary optic neuropathy. comparison with American and British counterparts Neuroophthalmology. 22:1999;187-193.
340. Yamakura F., Taka H., Fujimura T., Murayama K. Inactivation of human manganese-superoxide dismutase by peroxynitrite is caused by exclusive nitration of tyrosine 34 to 3-nitrotyrosine. J. Biol. Chem. 273:1998;14085- 14089.
341. Yamamoto T., Maruyama W., Kato Y., Yi H., Shamoto-Nagai M., Tanaka M., Sato Y., Naoi M. Selective nitration of mitochondrial complex I by peroxynitrite. involvement in mitochondria dysfunction and cell death of dopaminergic SH-SY5Y cells J. Neural. Trans. 109:2002;1-13.
342. Yang J., Liu X., Bhalla K., Kim C.N., Ibrado A.M., Cai J., Peng T.-I., Jones D.P., Wang X. Prevention of apoptosis by Bcl-2. release of cytochrome c from mitochondria blocked Science. 275:1997;1129-1132.
343. Yoles E., Wheeler L.A., Schwartz M. Alpha2-adrenoreceptor agonists are neuroprotective in a rat model of optic nerve degeneration. Invest. Ophthalmol. Vis. Sci. 40:1999;65-73.
344. Yu D.Y., Cringle S.J. Oxygen distribution and consumption within the retina in vascularised and avascular retinas and in animal models of retinal disease. Prog. Retin. Eye Res. 20:2001;175-208.
345. Zanna, C., Ghelli, A., Porcelli, A.M., Carelli, V., Martinuzzi, A., Rugolo, M., 2004. Apoptotic cell death of cybrids bearing LHON mutations is caspase-independent. Ann. NY Acad. Sci., in press.
346. Zeviani M., Spinazzola A., Carelli V. Nuclear genes in mitochondrial disorders. Curr. Opin. Genet. Dev. 13:2003;1-9.
347. Zhang X., Jones D., Gonzalez-Lima F. Mouse model of optic neuropathy caused by mitochondrial complex I dysfunction. Neurosci. Lett. 326:2002;97-100.
348. Zoratti M., Szabo I. The mitochondrial permeability transition. Biochim. Biophys. Acta. 1241:1995;139-176.