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Volumn 1787, Issue 5, 2009, Pages 518-528

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders

Author keywords

Complex I; DOA; LHON; Mitochondrial DNA; Neurodegeneration; OPA1; Optic nerve; Optic neuropathy; Retinal ganglion cell

Indexed keywords

GLUTAMIC ACID; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN;

EID: 65449154775     PISSN: 00052728     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbabio.2009.02.024     Document Type: Review
Times cited : (208)

References (143)
  • 1
    • 0006160557 scopus 로고    scopus 로고
    • Chapter 4, anatomy of the visual sensory system
    • Glaser J.S. (Ed), Lippincott Williams and Wilkins, Philadelphia
    • Sadun A.A., and Glaser J.S. Chapter 4, anatomy of the visual sensory system. In: Glaser J.S. (Ed). Neuro-ophthalmology. 3rd Ed (1999), Lippincott Williams and Wilkins, Philadelphia 75-94
    • (1999) Neuro-ophthalmology. 3rd Ed , pp. 75-94
    • Sadun, A.A.1    Glaser, J.S.2
  • 4
    • 26444437758 scopus 로고    scopus 로고
    • Optic neuropathies-importance of spatial distribution of mitochondria as well as function
    • Yu-Wai-Man P., Chinnery P.F., and Griffiths P.G. Optic neuropathies-importance of spatial distribution of mitochondria as well as function. Med. Hypotheses 65 (2005) 1038-1042
    • (2005) Med. Hypotheses , vol.65 , pp. 1038-1042
    • Yu-Wai-Man, P.1    Chinnery, P.F.2    Griffiths, P.G.3
  • 5
    • 33748044052 scopus 로고    scopus 로고
    • Chapter 5. Mitochondrial ophthalmology
    • Di Mauro S., Hirano M., and Schon E. (Eds), Informa Healthcare Abingdon, Oxon, UK
    • Carelli V., Barboni P., and Sadun A.A. Chapter 5. Mitochondrial ophthalmology. In: Di Mauro S., Hirano M., and Schon E. (Eds). Mitochondrial medicine (2006), Informa Healthcare Abingdon, Oxon, UK 105-142
    • (2006) Mitochondrial medicine , pp. 105-142
    • Carelli, V.1    Barboni, P.2    Sadun, A.A.3
  • 6
    • 34447600937 scopus 로고
    • Uber hereditare und congenital-angelegte Sehnervenleiden
    • Leber T. Uber hereditare und congenital-angelegte Sehnervenleiden. Arch. Ophthalmol. 17 (1871) 249-291
    • (1871) Arch. Ophthalmol. , vol.17 , pp. 249-291
    • Leber, T.1
  • 8
    • 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. Scand. 37 (1959) 1-146
    • (1959) Acta Ophthalmol. Scand. , vol.37 , pp. 1-146
    • Kjer, P.1
  • 12
    • 33846301708 scopus 로고    scopus 로고
    • The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White
    • Ruiter E.M., Siers M.H., van den Elzen C., van Engelen B.G., Smeitink J.A., Rodenburg R.J., and Hol F.A. The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White. Eur. J. Hum. Genet. 15 (2007) 155-161
    • (2007) Eur. J. Hum. Genet. , vol.15 , pp. 155-161
    • Ruiter, E.M.1    Siers, M.H.2    van den Elzen, C.3    van Engelen, B.G.4    Smeitink, J.A.5    Rodenburg, R.J.6    Hol, F.A.7
  • 13
    • 0032707838 scopus 로고    scopus 로고
    • The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS
    • Pulkes T., Eunson L., Patterson V., Siddiqui A., Wood N.W., Nelson I.P., Morgan-Hughes J.A., and 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
    • (1999) Ann. Neurol. , vol.46 , pp. 916-919
    • Pulkes, T.1    Eunson, L.2    Patterson, V.3    Siddiqui, A.4    Wood, N.W.5    Nelson, I.P.6    Morgan-Hughes, J.A.7    Hanna, M.G.8
  • 25
    • 0024582283 scopus 로고
    • A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia
    • Costeff H., Gadoth N., Apter N., Prialnic M., and Savir H. A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology 39 (1989) 595-597
    • (1989) Neurology , vol.39 , pp. 595-597
    • Costeff, H.1    Gadoth, N.2    Apter, N.3    Prialnic, M.4    Savir, H.5
  • 26
    • 0035205389 scopus 로고    scopus 로고
    • Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews
    • Anikster Y., Kleta R., Shaag A., Gahl W.A., and Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am. J. Hum. Genet. 69 (2001) 1218-1224
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 1218-1224
    • Anikster, Y.1    Kleta, R.2    Shaag, A.3    Gahl, W.A.4    Elpeleg, O.5
  • 28
    • 17644393817 scopus 로고    scopus 로고
    • An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs
    • Verny C., Amati-Bonneau P., Dubas F., Malthiéry Y., Reynier P., and Bonneau D. An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs. Rev. Neurol. (Paris) 161 (2005) 451-454
    • (2005) Rev. Neurol. (Paris) , vol.161 , pp. 451-454
    • Verny, C.1    Amati-Bonneau, P.2    Dubas, F.3    Malthiéry, Y.4    Reynier, P.5    Bonneau, D.6
  • 30
    • 0026757115 scopus 로고
    • An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
    • Johns D.R., Neufeld M.J., and Park R.D. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem. Biophys. Res. Comm. 187 (1992) 1551-1557
    • (1992) Biochem. Biophys. Res. Comm. , vol.187 , pp. 1551-1557
    • Johns, D.R.1    Neufeld, M.J.2    Park, R.D.3
  • 32
    • 0015815660 scopus 로고
    • Ocular fundus in acute Leber optic neuropathy
    • Smith J.L., Hoyt W.F., and Susac J.O. Ocular fundus in acute Leber optic neuropathy. Arch. Ophthalmol. 90 (1973) 349-354
    • (1973) Arch. Ophthalmol. , vol.90 , pp. 349-354
    • Smith, J.L.1    Hoyt, W.F.2    Susac, J.O.3
  • 33
    • 0020602931 scopus 로고
    • Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in affected family members
    • Nikoskelainen E., Hoyt W.F., and Nummelin K. Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in affected family members. Arch. Ophthalmol. 101 (1983) 1059-1068
    • (1983) Arch. Ophthalmol. , vol.101 , pp. 1059-1068
    • Nikoskelainen, E.1    Hoyt, W.F.2    Nummelin, K.3
  • 34
    • 0021255222 scopus 로고
    • Fundus findings in Leber's hereditary optic neuropathy. III. Fluorescein angiographic studies
    • Nikoskelainen E., Hoyt W.F., Nummelin K., and Schatz H. Fundus findings in Leber's hereditary optic neuropathy. III. Fluorescein angiographic studies. Arch. Ophthalmol. 102 (1984) 981-989
    • (1984) Arch. Ophthalmol. , vol.102 , pp. 981-989
    • Nikoskelainen, E.1    Hoyt, W.F.2    Nummelin, K.3    Schatz, H.4
  • 35
    • 0019989454 scopus 로고
    • Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members
    • Nikoskelainen E., Hoyt W.F., and Nummelin K. Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members. Arch. Ophthalmol. 100 (1982) 1597-1602
    • (1982) Arch. Ophthalmol. , vol.100 , pp. 1597-1602
    • Nikoskelainen, E.1    Hoyt, W.F.2    Nummelin, K.3
  • 37
    • 31144477018 scopus 로고    scopus 로고
    • Relative post-mortem sparing of afferent pupil fibers in a patient with 3460 Leber's hereditary optic neuropathy
    • Bose S., Dhillon N., Ross-Cisneros F.N., and Carelli V. Relative post-mortem sparing of afferent pupil fibers in a patient with 3460 Leber's hereditary optic neuropathy. Graefes Arch. Clin. Exp. Ophthalmol. 243 (2005) 1175-1179
    • (2005) Graefes Arch. Clin. Exp. Ophthalmol. , vol.243 , pp. 1175-1179
    • Bose, S.1    Dhillon, N.2    Ross-Cisneros, F.N.3    Carelli, V.4
  • 39
    • 0026746739 scopus 로고
    • A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology
    • Mackey D., and 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
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 1218-1228
    • Mackey, D.1    Howell, N.2
  • 40
    • 0032192258 scopus 로고    scopus 로고
    • Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery
    • Pezzi P.P., De Negri A.M., Sadun F., Carelli V., and Leuzzi V. Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery. Pediatr. Neurol. 19 (1998) 308-312
    • (1998) Pediatr. Neurol. , vol.19 , pp. 308-312
    • Pezzi, P.P.1    De Negri, A.M.2    Sadun, F.3    Carelli, V.4    Leuzzi, V.5
  • 41
    • 0001626214 scopus 로고
    • Morphological findings in the visual system in a case of Leber's hereditary optic neuropathy
    • Sadun A.A., Kashima Y., Wurdeman A.E., Dao J., Heller K., and Sherman J. Morphological findings in the visual system in a case of Leber's hereditary optic neuropathy. Clin. Neurosci. 2 (1994) 165-172
    • (1994) Clin. Neurosci. , vol.2 , pp. 165-172
    • Sadun, A.A.1    Kashima, Y.2    Wurdeman, A.E.3    Dao, J.4    Heller, K.5    Sherman, J.6
  • 44
    • 16244413197 scopus 로고    scopus 로고
    • Correlation between retinal nerve fibre layer thickness and optic nerve head size: an optical coherence tomography study
    • Savini G., Zanini M., Carelli V., Sadun A.A., Ross-Cisneros F.N., and Barboni P. Correlation between retinal nerve fibre layer thickness and optic nerve head size: an optical coherence tomography study. Br. J. Ophthalmol. 89 (2005) 489-492
    • (2005) Br. J. Ophthalmol. , vol.89 , pp. 489-492
    • Savini, G.1    Zanini, M.2    Carelli, V.3    Sadun, A.A.4    Ross-Cisneros, F.N.5    Barboni, P.6
  • 48
    • 0037406049 scopus 로고    scopus 로고
    • Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction
    • Carelli V., Giordano C., and d'Amati G. Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction. Trends Genet. 19 (2003) 257-262
    • (2003) Trends Genet. , vol.19 , pp. 257-262
    • Carelli, V.1    Giordano, C.2    d'Amati, G.3
  • 49
    • 0025820109 scopus 로고
    • X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation
    • Bu X.D., and 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. U. S. A. 88 (1991) 8198-8202
    • (1991) Proc. Natl. Acad. Sci. U. S. A. , vol.88 , pp. 8198-8202
    • Bu, X.D.1    Rotter, J.I.2
  • 52
    • 37548999745 scopus 로고    scopus 로고
    • X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy
    • Hudson G., Carelli V., Horvath R., Zeviani M., Smeets H.J., and Chinnery P.F. X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy. Mol. Vis. 13 (2007) 2339-2343
    • (2007) Mol. Vis. , vol.13 , pp. 2339-2343
    • Hudson, G.1    Carelli, V.2    Horvath, R.3    Zeviani, M.4    Smeets, H.J.5    Chinnery, P.F.6
  • 55
    • 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 A.M., Schapira A.H., Martinuzzi A., Carelli V., and 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
    • (2003) J. Biol. Chem. , vol.278 , pp. 4145-4150
    • Ghelli, A.1    Zanna, C.2    Porcelli, A.M.3    Schapira, A.H.4    Martinuzzi, A.5    Carelli, V.6    Rugolo, M.7
  • 56
    • 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 A.M., Martinuzzi A., Carelli V., and 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 10 (2005) 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
  • 60
    • 0037235396 scopus 로고    scopus 로고
    • Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy
    • Votruba M., Thiselton D., and Bhattacharya S.S. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. Br. J. Ophthalmol. 87 (2003) 48-53
    • (2003) Br. J. Ophthalmol. , vol.87 , pp. 48-53
    • Votruba, M.1    Thiselton, D.2    Bhattacharya, S.S.3
  • 62
    • 0020691778 scopus 로고
    • Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy
    • Kjer P., Jensen O.A., and Klinken L. Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. Acta Ophthalmol. (Copenh) 61 (1983) 300-312
    • (1983) Acta Ophthalmol. (Copenh) , vol.61 , pp. 300-312
    • Kjer, P.1    Jensen, O.A.2    Klinken, L.3
  • 67
    • 0742288598 scopus 로고    scopus 로고
    • The dynamin superfamily: universal membrane tubulation and fission molecules?
    • Praefcke G.J.K., and McMahon H.T. The dynamin superfamily: universal membrane tubulation and fission molecules?. Nat. Rev. 5 (2004) 133-147
    • (2004) Nat. Rev. , vol.5 , pp. 133-147
    • Praefcke, G.J.K.1    McMahon, H.T.2
  • 68
    • 34250204271 scopus 로고    scopus 로고
    • The machine that divide and fuse mitochondria
    • Hoppins S., Lackner L., and Nunnari J. The machine that divide and fuse mitochondria. Ann. Rev. Biochem. 76 (2007) 751-780
    • (2007) Ann. Rev. Biochem. , vol.76 , pp. 751-780
    • Hoppins, S.1    Lackner, L.2    Nunnari, J.3
  • 70
    • 0037424239 scopus 로고    scopus 로고
    • Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis
    • Olichon A., Baricault L., Gas N., Guillou E., Valette A., Belenguer P., and 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
    • (2003) J. Biol. Chem. , vol.278 , pp. 7743-7746
    • Olichon, A.1    Baricault, L.2    Gas, N.3    Guillou, E.4    Valette, A.5    Belenguer, P.6    Lenaers, G.7
  • 75
    • 0030791665 scopus 로고    scopus 로고
    • Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes
    • Chinnery P.F., Howell N., Lightowlers R.N., and Turnbull D.M. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 120 (1997) 1713-1721
    • (1997) Brain , vol.120 , pp. 1713-1721
    • Chinnery, P.F.1    Howell, N.2    Lightowlers, R.N.3    Turnbull, D.M.4
  • 77
    • 0028566729 scopus 로고
    • Pathogenic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences
    • Cavanagh J.B., and 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
    • (1994) Brain , vol.117 , pp. 1357-1376
    • Cavanagh, J.B.1    Harding, B.N.2
  • 78
    • 48249156188 scopus 로고    scopus 로고
    • Mitochondrial disorders in the nervous system
    • DiMauro S., and Schon E.A. Mitochondrial disorders in the nervous system. Annu. Rev. Neurosci. 31 (2008) 91-123
    • (2008) Annu. Rev. Neurosci. , vol.31 , pp. 91-123
    • DiMauro, S.1    Schon, E.A.2
  • 79
    • 0028342847 scopus 로고
    • 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
    • Jun A.S., Brown M.D., and 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. U. S. A. 91 (1994) 6206-6210
    • (1994) Proc. Natl. Acad. Sci. U. S. A. , vol.91 , pp. 6206-6210
    • Jun, A.S.1    Brown, M.D.2    Wallace, D.C.3
  • 80
    • 0033623822 scopus 로고    scopus 로고
    • Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families
    • Kirby D.M., Kahler S.G., Freckmann M.-L., Reddihough D., and Thorburn D.R. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Ann. Neurol. 48 (2000) 102-104
    • (2000) Ann. Neurol. , vol.48 , pp. 102-104
    • Kirby, D.M.1    Kahler, S.G.2    Freckmann, M.-L.3    Reddihough, D.4    Thorburn, D.R.5
  • 84
    • 0001476920 scopus 로고
    • Clinical picture of LHON
    • Nikoskelainen E.K. Clinical picture of LHON. Clin. Neurosci. 2 (1994) 115-120
    • (1994) Clin. Neurosci. , vol.2 , pp. 115-120
    • Nikoskelainen, E.K.1
  • 85
    • 0024343409 scopus 로고
    • Vascular involvement in mitochondrial myopathy
    • Sakuta R., and Nonaka I. Vascular involvement in mitochondrial myopathy. Ann. Neurol. 25 (1989) 594-601
    • (1989) Ann. Neurol. , vol.25 , pp. 594-601
    • Sakuta, R.1    Nonaka, I.2
  • 86
    • 0025825012 scopus 로고
    • Strongly succinate dehydrogenase reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
    • Hasegawa H., Matsuoka T., Goto Y., and 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
    • (1991) Ann. Neurol. , vol.29 , pp. 601-605
    • Hasegawa, H.1    Matsuoka, T.2    Goto, Y.3    Nonaka, I.4
  • 87
    • 54049142098 scopus 로고    scopus 로고
    • Friedreich ataxia
    • Pandolfo M. Friedreich ataxia. Arch. Neurol. 65 (2008) 1296-1303
    • (2008) Arch. Neurol. , vol.65 , pp. 1296-1303
    • Pandolfo, M.1
  • 92
    • 0018956881 scopus 로고
    • The incidence and nature of visual pathway involvement in Friedreich's ataxia, a clinical and visual evoked potential study of 22 patients
    • Carroll W.M., Kriss A., Baraitser M., Barrett G., and Halliday A.M. The incidence and nature of visual pathway involvement in Friedreich's ataxia, a clinical and visual evoked potential study of 22 patients. Brain 103 (1980) 413-434
    • (1980) Brain , vol.103 , pp. 413-434
    • Carroll, W.M.1    Kriss, A.2    Baraitser, M.3    Barrett, G.4    Halliday, A.M.5
  • 93
    • 84975519745 scopus 로고    scopus 로고
    • Visual loss and recovery in a patient with Friedreich ataxia
    • Givre S.J., Wall M., and Kardon R.H. Visual loss and recovery in a patient with Friedreich ataxia. J. Neuro-Ophthalmol. 20 (2000) 229-233
    • (2000) J. Neuro-Ophthalmol. , vol.20 , pp. 229-233
    • Givre, S.J.1    Wall, M.2    Kardon, R.H.3
  • 95
    • 0002923628 scopus 로고
    • Sex-linked deafness of a possibly new type
    • Mohr J., and Mageroy K. Sex-linked deafness of a possibly new type. Acta Genet. Stat. Med. 10 (1960) 54-62
    • (1960) Acta Genet. Stat. Med. , vol.10 , pp. 54-62
    • Mohr, J.1    Mageroy, K.2
  • 99
    • 34249873947 scopus 로고    scopus 로고
    • Translocation of proteins into mitochondria
    • Neupert W., and Herrmann J.M. Translocation of proteins into mitochondria. Annu. Rev. Biochem. 76 (2007) 723-749
    • (2007) Annu. Rev. Biochem. , vol.76 , pp. 723-749
    • Neupert, W.1    Herrmann, J.M.2
  • 101
    • 0036501592 scopus 로고    scopus 로고
    • Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex
    • Roesch K., Curran S.P., Tranebjaerg L., and Koehler C.M. Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. Hum. Mol. Genet. 11 (2002) 477-486
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 477-486
    • Roesch, K.1    Curran, S.P.2    Tranebjaerg, L.3    Koehler, C.M.4
  • 102
    • 0034795004 scopus 로고    scopus 로고
    • A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome
    • Swerdlow R.H., and Wooten G.F. A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome. Ann. Neurol. 50 (2001) 537-540
    • (2001) Ann. Neurol. , vol.50 , pp. 537-540
    • Swerdlow, R.H.1    Wooten, G.F.2
  • 103
    • 0042767609 scopus 로고    scopus 로고
    • Clinical and molecular findings in a patient with a novel mutation in the deafness dystonia peptide (DDP1) gene
    • Binder J., Hofmann S., Kreisel S., Wöhrle J.C., Bäzner H., Krauss J.K., Hennerici M.G., and Bauer M.F. Clinical and molecular findings in a patient with a novel mutation in the deafness dystonia peptide (DDP1) gene. Brain 126 (2003) 1814-1820
    • (2003) Brain , vol.126 , pp. 1814-1820
    • Binder, J.1    Hofmann, S.2    Kreisel, S.3    Wöhrle, J.C.4    Bäzner, H.5    Krauss, J.K.6    Hennerici, M.G.7    Bauer, M.F.8
  • 105
  • 106
    • 55549094109 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms
    • Salinas S., Proukakis C., Crosby A., and Warner T.T. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol. 7 (2008) 1127-1138
    • (2008) Lancet Neurol. , vol.7 , pp. 1127-1138
    • Salinas, S.1    Proukakis, C.2    Crosby, A.3    Warner, T.T.4
  • 107
    • 0036984851 scopus 로고    scopus 로고
    • Optic neuropathy in Strumpell-Lorrain disease: presentation of a clinical case and literature review
    • Makhoul J., Cordonnier M., and Van Nechel C. Optic neuropathy in Strumpell-Lorrain disease: presentation of a clinical case and literature review. Bull. Soc. Belge. Ophtalmol. 286 (2002) 9-14
    • (2002) Bull. Soc. Belge. Ophtalmol. , vol.286 , pp. 9-14
    • Makhoul, J.1    Cordonnier, M.2    Van Nechel, C.3
  • 110
    • 0344736798 scopus 로고    scopus 로고
    • Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia
    • Atorino L., Silvestri L., Koppen M., Cassina L., Ballabio A., Marconi R., Langer T., and Casari G. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J. Cell. Biol. 163 (2003) 777-787
    • (2003) J. Cell. Biol. , vol.163 , pp. 777-787
    • Atorino, L.1    Silvestri, L.2    Koppen, M.3    Cassina, L.4    Ballabio, A.5    Marconi, R.6    Langer, T.7    Casari, G.8
  • 112
    • 33744970020 scopus 로고    scopus 로고
    • Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia
    • Rugarli E.I., and Langer T. Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia. Trends Mol. Med. 12 (2006) 262-269
    • (2006) Trends Mol. Med. , vol.12 , pp. 262-269
    • Rugarli, E.I.1    Langer, T.2
  • 113
    • 33746299692 scopus 로고    scopus 로고
    • Regulation of mitochondrial morphology through proteolytic cleavage of OPA1
    • Ishihara N., Fujita Y., Oka T., and Mihara K. Regulation of mitochondrial morphology through proteolytic cleavage of OPA1. EMBO J. 25 (2006) 2966-2977
    • (2006) EMBO J. , vol.25 , pp. 2966-2977
    • Ishihara, N.1    Fujita, Y.2    Oka, T.3    Mihara, K.4
  • 117
    • 0034943967 scopus 로고    scopus 로고
    • Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA Deletions
    • Van Goethem G., Dermaut B., Lofgren A., Martin J.J., and Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA Deletions. Nat. Genet. 28 (2001) 211-212
    • (2001) Nat. Genet. , vol.28 , pp. 211-212
    • Van Goethem, G.1    Dermaut, B.2    Lofgren, A.3    Martin, J.J.4    Van Broeckhoven, C.5
  • 121
    • 0033613865 scopus 로고    scopus 로고
    • Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
    • Nishino I., Spinazzola A., and Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283 (1999) 689-692
    • (1999) Science , vol.283 , pp. 689-692
    • Nishino, I.1    Spinazzola, A.2    Hirano, M.3
  • 122
    • 33749001168 scopus 로고    scopus 로고
    • Mitochondrial DNA polymerase-gamma and human disease
    • Hudson G., and Chinnery P.F. Mitochondrial DNA polymerase-gamma and human disease. Hum. Mol. Genet. 15 Spec No 2 (2006) R244-R252
    • (2006) Hum. Mol. Genet. , vol.15 , Issue.Spec No 2
    • Hudson, G.1    Chinnery, P.F.2
  • 123
    • 23644432014 scopus 로고    scopus 로고
    • Thymidine phosphorylase mutations cause instability of mitochondrial DNA
    • Hirano M., Lagier-Tourenne C., Valentino M.L., Martí R., and Nishigaki Y. Thymidine phosphorylase mutations cause instability of mitochondrial DNA. Gene 354 (2005) 152-156
    • (2005) Gene , vol.354 , pp. 152-156
    • Hirano, M.1    Lagier-Tourenne, C.2    Valentino, M.L.3    Martí, R.4    Nishigaki, Y.5
  • 124
    • 0021223404 scopus 로고
    • Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome
    • Treft R.L., Sanborn G.E., Carey J., Swartz M., Crisp D., Wester D.C., and Creel D. Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome. Ophthalmology 91 (1984) 908-915
    • (1984) Ophthalmology , vol.91 , pp. 908-915
    • Treft, R.L.1    Sanborn, G.E.2    Carey, J.3    Swartz, M.4    Crisp, D.5    Wester, D.C.6    Creel, D.7
  • 125
    • 0021920508 scopus 로고
    • Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO)
    • Meire F., De Laey J.J., de Bie S., van Staey M., and Matton M.T. Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO). Ophthalmic. Paediatr. Genet. 5 (1985) 91-97
    • (1985) Ophthalmic. Paediatr. Genet. , vol.5 , pp. 91-97
    • Meire, F.1    De Laey, J.J.2    de Bie, S.3    van Staey, M.4    Matton, M.T.5
  • 127
    • 38849092044 scopus 로고    scopus 로고
    • OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape
    • Zeviani M. OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape. Brain 131 (2008) 314-317
    • (2008) Brain , vol.131 , pp. 314-317
    • Zeviani, M.1
  • 132
    • 33846224191 scopus 로고    scopus 로고
    • Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations
    • Baloh R.H., Schmidt R.E., Pestronk A., and Milbrandt J. Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. J. Neurosci. 27 (2007) 422-430
    • (2007) J. Neurosci. , vol.27 , pp. 422-430
    • Baloh, R.H.1    Schmidt, R.E.2    Pestronk, A.3    Milbrandt, J.4
  • 133
    • 0036375019 scopus 로고    scopus 로고
    • 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings
    • Kleta R., Skovby F., Christensen E., Rosenberg T., Gahl W.A., and Anikster Y. 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. Mol. Genet. Metab. 76 (2002) 201-206
    • (2002) Mol. Genet. Metab. , vol.76 , pp. 201-206
    • Kleta, R.1    Skovby, F.2    Christensen, E.3    Rosenberg, T.4    Gahl, W.A.5    Anikster, Y.6
  • 135
    • 0033840193 scopus 로고    scopus 로고
    • Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene
    • Birch-Machin M.A., Taylor R.W., Cochran B., Ackrell B.A., and Turnbull D.M. Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene. Ann. Neurol. 48 (2000) 330-335
    • (2000) Ann. Neurol. , vol.48 , pp. 330-335
    • Birch-Machin, M.A.1    Taylor, R.W.2    Cochran, B.3    Ackrell, B.A.4    Turnbull, D.M.5
  • 137
    • 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 A.M., Angelin A., Ghelli A., Mariani E., Martinuzzi A., Carelli V., Petronilli V., Bernardi P., and Rugolo M. 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. 284 (2009) 2045-2052
    • (2009) J. Biol. Chem. , vol.284 , pp. 2045-2052
    • Porcelli, A.M.1    Angelin, A.2    Ghelli, A.3    Mariani, E.4    Martinuzzi, A.5    Carelli, V.6    Petronilli, V.7    Bernardi, P.8    Rugolo, M.9
  • 138
    • 45349094984 scopus 로고    scopus 로고
    • Mitochondrial dynamics and apoptosis
    • Suen D.F., Norris K.L., and Youle R.J. Mitochondrial dynamics and apoptosis. Genes Dev. 22 (2008) 1577-1590
    • (2008) Genes Dev. , vol.22 , pp. 1577-1590
    • Suen, D.F.1    Norris, K.L.2    Youle, R.J.3
  • 139
    • 0036724369 scopus 로고    scopus 로고
    • Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutation
    • Yen M.Y., Chen C.S., Wang A.G., and Wei Y.H. Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutation. Br. J. Ophthalmol. 86 (2002) 1027-1030
    • (2002) Br. J. Ophthalmol. , vol.86 , pp. 1027-1030
    • Yen, M.Y.1    Chen, C.S.2    Wang, A.G.3    Wei, Y.H.4
  • 140
    • 15244364005 scopus 로고    scopus 로고
    • Mitochondrial DNA content is decreased in autosomal dominant optic atrophy
    • Kim J.Y., Hwang J.M., Ko H.S., Seong M.W., Park B.J., and Park S.S. Mitochondrial DNA content is decreased in autosomal dominant optic atrophy. Neurology 64 (2005) 966-972
    • (2005) Neurology , vol.64 , pp. 966-972
    • Kim, J.Y.1    Hwang, J.M.2    Ko, H.S.3    Seong, M.W.4    Park, B.J.5    Park, S.S.6
  • 141
    • 33745757783 scopus 로고    scopus 로고
    • Critical dependence of neurons on mitochondrial dynamics
    • Chen H., and Chan D.C. Critical dependence of neurons on mitochondrial dynamics. Curr. Opin. Cell. Biol. 18 (2006) 453-459
    • (2006) Curr. Opin. Cell. Biol. , vol.18 , pp. 453-459
    • Chen, H.1    Chan, D.C.2
  • 142
    • 10944269186 scopus 로고    scopus 로고
    • The importance of dendritic mitochondria in the morphogenesis and plasticity of spines and synapses
    • Li Z., Okamoto K., Hayashi Y., and Sheng M. The importance of dendritic mitochondria in the morphogenesis and plasticity of spines and synapses. Cell 119 (2004) 873-887
    • (2004) Cell , vol.119 , pp. 873-887
    • Li, Z.1    Okamoto, K.2    Hayashi, Y.3    Sheng, M.4
  • 143
    • 50049118173 scopus 로고    scopus 로고
    • C.T. Moraes. Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype
    • Wenz T., Diaz F., and Spiegelman B.M. C.T. Moraes. Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype. Cell. Metab. 8 (2008) 249-256
    • (2008) Cell. Metab. , vol.8 , pp. 249-256
    • Wenz, T.1    Diaz, F.2    Spiegelman, B.M.3


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