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Volumn 348, Issue 26, 2003, Pages 2656-2668

Mitochondrial respiratory-chain diseases

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; MITOCHONDRIAL DNA; RIBOSOME RNA; TRANSFER RNA;

EID: 0037972522     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJMra022567     Document Type: Review
Times cited : (1378)

References (84)
  • 1
    • 0032576724 scopus 로고    scopus 로고
    • Energy transduction in ATP synthase
    • Elston T, Wang H, Oster G. Energy transduction in ATP synthase. Nature 1998;391:510-3.
    • (1998) Nature , vol.391 , pp. 510-513
    • Elston, T.1    Wang, H.2    Oster, G.3
  • 2
    • 0035910414 scopus 로고    scopus 로고
    • The rotary machine of the cell, ATP synthase
    • Noji H, Yoshida M. The rotary machine of the cell, ATP synthase. J Biol Chem 2001;276:1665-8.
    • (2001) J Biol Chem , vol.276 , pp. 1665-1668
    • Noji, H.1    Yoshida, M.2
  • 3
    • 0034956801 scopus 로고    scopus 로고
    • Epidemiology and treatment of mitochondrial disorders
    • Chinnery PF, Turnbull DM. Epidemiology and treatment of mitochondrial disorders. Am J Med Genet 2001;106:94-101.
    • (2001) Am J Med Genet , vol.106 , pp. 94-101
    • Chinnery, P.F.1    Turnbull, D.M.2
  • 4
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717-9.
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 5
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:1427-30.
    • (1988) Science , vol.242 , pp. 1427-1430
    • Wallace, D.C.1    Singh, G.2    Lott, M.T.3
  • 6
    • 0037158599 scopus 로고    scopus 로고
    • Paternal inheritance of mitochondrial DNA
    • Schwartz M, Vissing J. Paternal inheritance of mitochondrial DNA. N Engl J Med 2002;347:576-80.
    • (2002) N Engl J Med , vol.347 , pp. 576-580
    • Schwartz, M.1    Vissing, J.2
  • 7
    • 0036132915 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathies: Gene mutation
    • Servidei S. Mitochondrial encephalomyopathies: gene mutation. Neuromuscul Disord 2002;12:101-10.
    • (2002) Neuromuscul Disord , vol.12 , pp. 101-110
    • Servidei, S.1
  • 8
    • 0002629236 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathies
    • Rosenberg RN, Prusiner S, DiMauro S, Barchi RL, eds. Boston: Butterworth-Heinemann
    • DiMauro S, Bonilla E. Mitochondrial encephalomyopathies. In: Rosenberg RN, Prusiner S, DiMauro S, Barchi RL, eds. The molecular and genetic basis of neurological disease. 2nd ed. Boston: Butterworth-Heinemann, 1996:201-35.
    • (1996) The Molecular and Genetic Basis of Neurological Disease. 2nd Ed. , pp. 201-235
    • DiMauro, S.1    Bonilla, E.2
  • 9
    • 0036372802 scopus 로고    scopus 로고
    • Clinical features and genetics of myoclonic epilepsy with ragged red fibers
    • Fahn S, Frucht SJ, eds. Philadelphia: Lippincott Williams & Wilkins
    • DiMauro S, Hirano M, Kaufmann P, et al. Clinical features and genetics of myoclonic epilepsy with ragged red fibers. In: Fahn S, Frucht SJ, eds. Myoclonus and paroxysmal dyskinesia. Philadelphia: Lippincott Williams & Wilkins, 2002:217-29.
    • (2002) Myoclonus and Paroxysmal Dyskinesia , pp. 217-229
    • DiMauro, S.1    Hirano, M.2    Kaufmann, P.3
  • 10
    • 77957170634 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy
    • Schapira AHV, DiMauro S, eds. Boston: Butterworth-Heinemann
    • Carelli V. Leber's hereditary optic neuropathy. In: Schapira AHV, DiMauro S, eds. Mitochondrial disorders in neurology. 2nd ed. Boston: Butterworth-Heinemann, 2002:115-42.
    • (2002) Mitochondrial Disorders in Neurology. 2nd Ed. , pp. 115-142
    • Carelli, V.1
  • 11
    • 0033619147 scopus 로고    scopus 로고
    • Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
    • Andreu AL, Hanna MG, Reichmann H, et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med 1999;341:1037-44.
    • (1999) N Engl J Med , vol.341 , pp. 1037-1044
    • Andreu, A.L.1    Hanna, M.G.2    Reichmann, H.3
  • 12
    • 0028328317 scopus 로고
    • A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA
    • Kadowaki T, Kadowaki H, Mori Y, et al. A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. N Engl J Med 1994;330:962-8.
    • (1994) N Engl J Med , vol.330 , pp. 962-968
    • Kadowaki, T.1    Kadowaki, H.2    Mori, Y.3
  • 14
    • 0031917201 scopus 로고    scopus 로고
    • Mitochondrial murations and hearing loss: Paradigm for mitochondrial genetics
    • Fischel-Ghodsian N. Mitochondrial murations and hearing loss: paradigm for mitochondrial genetics. Am J Hum Genet 1998;62:15-9.
    • (1998) Am J Hum Genet , vol.62 , pp. 15-19
    • Fischel-Ghodsian, N.1
  • 16
    • 0024448458 scopus 로고
    • Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
    • King MP, Attardi G. Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 1989;246:500-3.
    • (1989) Science , vol.246 , pp. 500-503
    • King, M.P.1    Attardi, G.2
  • 17
    • 0026566850 scopus 로고
    • Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
    • Tatuch Y, Christodoulou J, Feigenbaum A, et al. Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992;50:852-8.
    • (1992) Am J Hum Genet , vol.50 , pp. 852-858
    • Tatuch, Y.1    Christodoulou, J.2    Feigenbaum, A.3
  • 18
    • 0031892853 scopus 로고    scopus 로고
    • Pancreatic beta-cell glucokinase: Closing the gap between theoretical concepts and experimental realities
    • Matschinsky FM, Glaser B, Magnuson MA. Pancreatic beta-cell glucokinase: closing the gap between theoretical concepts and experimental realities. Diabetes 1998;47:307-15.
    • (1998) Diabetes , vol.47 , pp. 307-315
    • Matschinsky, F.M.1    Glaser, B.2    Magnuson, M.A.3
  • 19
    • 0033548138 scopus 로고    scopus 로고
    • Role of NADH shuttle system in glucose-induced activation of mitochondrial metabolism and insulin secretion
    • Eto K, Tsubamoto Y, Terauchi Y, et al. Role of NADH shuttle system in glucose-induced activation of mitochondrial metabolism and insulin secretion. Science 1999;283:981-5.
    • (1999) Science , vol.283 , pp. 981-985
    • Eto, K.1    Tsubamoto, Y.2    Terauchi, Y.3
  • 20
    • 0035857151 scopus 로고    scopus 로고
    • Diabetes, insulin secretion, and the pancreatic beta-cell mitochondrion
    • Erratum, N Engl J Med 2002;346:634
    • Langin D. Diabetes, insulin secretion, and the pancreatic beta-cell mitochondrion. N Engl J Med 2001;345:1772-4. [Erratum, N Engl J Med 2002;346:634.]
    • (2001) N Engl J Med , vol.345 , pp. 1772-1774
    • Langin, D.1
  • 21
    • 0033772263 scopus 로고    scopus 로고
    • Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion in zygotes
    • Inoue K, Nakada K, Ogura A, et al. Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion in zygotes. Nat Genet 2000;26:176-81.
    • (2000) Nat Genet , vol.26 , pp. 176-181
    • Inoue, K.1    Nakada, K.2    Ogura, A.3
  • 22
    • 0034687797 scopus 로고    scopus 로고
    • Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice
    • Sligh JE, Levy SE, Waymire KG, et al. Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice. Proc Natl Acad Sci U S A 2000;97:14461-6.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 14461-14466
    • Sligh, J.E.1    Levy, S.E.2    Waymire, K.G.3
  • 23
    • 0034774689 scopus 로고    scopus 로고
    • Nuclear gene defects in respiratory chain disorders
    • Shoubridge EA. Nuclear gene defects in respiratory chain disorders. Semin Neurol 2001;21:261-7.
    • (2001) Semin Neurol , vol.21 , pp. 261-267
    • Shoubridge, E.A.1
  • 25
    • 0029159804 scopus 로고
    • Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
    • Bourgeron T, Rustin P, Chretien D, et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 1995;11:144-9.
    • (1995) Nat Genet , vol.11 , pp. 144-149
    • Bourgeron, T.1    Rustin, P.2    Chretien, D.3
  • 26
    • 0034059135 scopus 로고    scopus 로고
    • Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome
    • Parfait B, Chretien D, Rotig A, Marsac C, Munnich A, Rustin P. Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. Hum Genet 2000;106:236-43.
    • (2000) Hum Genet , vol.106 , pp. 236-243
    • Parfait, B.1    Chretien, D.2    Rotig, A.3    Marsac, C.4    Munnich, A.5    Rustin, P.6
  • 27
    • 0033840193 scopus 로고    scopus 로고
    • Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene
    • Birch-Machin MA, Taylor RW, Cochran B, Ackrell BA, Turnbull DM. Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene. Ann Neurol 2000;48:330-5.
    • (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
  • 28
    • 0035474099 scopus 로고    scopus 로고
    • Nuclear genetic defects of oxidative phosphorylation
    • Shoubridge EA. Nuclear genetic defects of oxidative phosphorylation. Hum Mol Genet 2001;10;2277-84.
    • (2001) Hum Mol Genet , vol.10 , pp. 2277-2284
    • Shoubridge, E.A.1
  • 29
    • 0034602950 scopus 로고    scopus 로고
    • Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
    • Baysal BE, Ferrell RE, Willett-Brozick JE, et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000;287:848-51.
    • (2000) Science , vol.287 , pp. 848-851
    • Baysal, B.E.1    Ferrell, R.E.2    Willett-Brozick, J.E.3
  • 30
    • 0033767445 scopus 로고    scopus 로고
    • Mutations in SDHC cause autosomal dominant paraganglioma, type 3
    • Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 2000;26:268-70.
    • (2000) Nat Genet , vol.26 , pp. 268-270
    • Niemann, S.1    Muller, U.2
  • 31
    • 0034671551 scopus 로고    scopus 로고
    • Somatic and occult germline mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma
    • Gimm O, Armanios M, Dziema H, Neumann HP, Eng C. Somatic and occult germline mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res 2000;60:6822-5.
    • (2000) Cancer Res , vol.60 , pp. 6822-6825
    • Gimm, O.1    Armanios, M.2    Dziema, H.3    Neumann, H.P.4    Eng, C.5
  • 32
    • 0035836740 scopus 로고    scopus 로고
    • Familial cerebellar ataxia with muscle coenzyme Q10 deficiency
    • Musumeci O, Naini A, Slonim AE, et al. Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology 2001;56:849-55.
    • (2001) Neurology , vol.56 , pp. 849-855
    • Musumeci, O.1    Naini, A.2    Slonim, A.E.3
  • 33
    • 17944381521 scopus 로고    scopus 로고
    • A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure
    • de Lonlay Valnot I, Barrientos A, et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 2001;29:57-60.
    • (2001) Nat Genet , vol.29 , pp. 57-60
    • De Lonlay Valnot, I.1    Barrientos, A.2
  • 34
    • 19044365959 scopus 로고    scopus 로고
    • GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
    • Visapaa I, Fellman V, Vesa J, et al. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet 2002;71:863-76.
    • (2002) Am J Hum Genet , vol.71 , pp. 863-876
    • Visapaa, I.1    Fellman, V.2    Vesa, J.3
  • 35
    • 0034951707 scopus 로고    scopus 로고
    • Cytochrome c oxidase deficiency
    • Shoubridge EA. Cytochrome c oxidase deficiency. Am J Med Genet 2001;106:46-52.
    • (2001) Am J Med Genet , vol.106 , pp. 46-52
    • Shoubridge, E.A.1
  • 36
    • 0035782927 scopus 로고    scopus 로고
    • The expanding spectrum of nuclear gene mutations in mitochondrial disorders
    • Zeviani M. The expanding spectrum of nuclear gene mutations in mitochondrial disorders. Semin Cell Dev Biol 2001;12:407-16.
    • (2001) Semin Cell Dev Biol , vol.12 , pp. 407-416
    • Zeviani, M.1
  • 37
    • 0037221950 scopus 로고    scopus 로고
    • Mutations in COX15 produce a defectin the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy
    • Antonicka H, Mattman A, Carlson CG, et al. Mutations in COX15 produce a defectin the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am J Hum Genet 2003;72:101-14.
    • (2003) Am J Hum Genet , vol.72 , pp. 101-114
    • Antonicka, H.1    Mattman, A.2    Carlson, C.G.3
  • 38
    • 0033916718 scopus 로고    scopus 로고
    • Mitochondrial respiratory chain diseases and mutations in nuclear DNA: A promising start?
    • Sue CM, Schon EA. Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start? Brain Pathol 2000;10:442-50.
    • (2000) Brain Pathol , vol.10 , pp. 442-450
    • Sue, C.M.1    Schon, E.A.2
  • 39
    • 0035782695 scopus 로고    scopus 로고
    • Defects of intergenomic communication: Autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA
    • Hirano M, Marti P, Ferreiro-Barros C, et al. Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA. Semin Cell Dev Biol 2001;12:417-27.
    • (2001) Semin Cell Dev Biol , vol.12 , pp. 417-427
    • Hirano, M.1    Marti, P.2    Ferreiro-Barros, C.3
  • 40
    • 0035956482 scopus 로고    scopus 로고
    • ANT1, Twinkle POLG TP: New genes open our eyes to ophthalmoplegia
    • Hirano M, DiMauro S. ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. Neurology 2001;57:2163-5.
    • (2001) Neurology , vol.57 , pp. 2163-2165
    • Hirano, M.1    DiMauro, S.2
  • 41
    • 0026002054 scopus 로고
    • Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: Clinical, morphologic, and biochemical studies
    • Servidei S, Zeviani M, Manfredi G, et al. Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology 1991;41:1053-9.
    • (1991) Neurology , vol.41 , pp. 1053-1059
    • Servidei, S.1    Zeviani, M.2    Manfredi, G.3
  • 42
    • 0030898772 scopus 로고    scopus 로고
    • Autosomal dominant progressive extemal ophthalmoplegia with multiple deletions of mtDNA: Clinical, biochemical, and molecular genetic features of the 10q-linked disease
    • Suomalainen A, Majander A, Wallin M, et al. Autosomal dominant progressive extemal ophthalmoplegia with multiple deletions ofmtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. Neurology 1997;48:1244-53.
    • (1997) Neurology , vol.48 , pp. 1244-1253
    • Suomalainen, A.1    Majander, A.2    Wallin, M.3
  • 43
    • 0029996721 scopus 로고    scopus 로고
    • Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy
    • Bohlega S, Tanji K, Santorelli FM, Hirano M, al-Jishi A, DiMauro S. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 1996;46:1329-34.
    • (1996) Neurology , vol.46 , pp. 1329-1334
    • Bohlega, S.1    Tanji, K.2    Santorelli, F.M.3    Hirano, M.4    Al-Jishi, A.5    DiMauro, S.6
  • 44
    • 0034096975 scopus 로고    scopus 로고
    • Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
    • Nishino I, Spinazzola A, Papadimitfiou A, et al. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 2000;47:792-800.
    • (2000) Ann Neurol , vol.47 , pp. 792-800
    • Nishino, I.1    Spinazzola, A.2    Papadimitfiou, A.3
  • 45
    • 0034604506 scopus 로고    scopus 로고
    • Role of adenine nucleotide translocator 1 in mtDNA maintenance
    • Kaukonen J, Juselius JK, Tiranti V, et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000;289:782-5.
    • (2000) Science , vol.289 , pp. 782-785
    • Kaukonen, J.1    Juselius, J.K.2    Tiranti, V.3
  • 46
    • 0034938364 scopus 로고    scopus 로고
    • Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
    • Erratum, Nat Genet 2001;29:100
    • Spelbrink JN, Li FY, Tiranti V, et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 2001;28:223-31. [Erratum, Nat Genet 2001;29:100.]
    • (2001) Nat Genet , vol.28 , pp. 223-231
    • Spelbrink, J.N.1    Li, F.Y.2    Tiranti, V.3
  • 47
    • 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 JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001;28:211-2.
    • (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
  • 48
    • 0033613865 scopus 로고    scopus 로고
    • Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
    • Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689-92.
    • (1999) Science , vol.283 , pp. 689-692
    • Nishino, I.1    Spinazzola, A.2    Hirano, M.3
  • 49
    • 0035179561 scopus 로고    scopus 로고
    • Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
    • Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001;29:342-4.
    • (2001) Nat Genet , vol.29 , pp. 342-344
    • Saada, A.1    Shaag, A.2    Mandel, H.3    Nevo, Y.4    Eriksson, S.5    Elpeleg, O.6
  • 50
    • 0037159255 scopus 로고    scopus 로고
    • Mitochondrial DNA depletion: Mutations in thymidine kinase gene with myopathy and SMA
    • Mancuso M, Salviati L, Sacconi S, et al. Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. Neuropathy 2002;59:1197-202.
    • (2002) Neuropathy , vol.59 , pp. 1197-1202
    • Mancuso, M.1    Salviati, L.2    Sacconi, S.3
  • 51
    • 0035183256 scopus 로고    scopus 로고
    • The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
    • Erratum, Nat Genet 2001;29:491
    • Mandel H, Szargel R, Labay V, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001;29:337-41. [Erratum, Nat Genet 2001;29:491.]
    • (2001) Nat Genet , vol.29 , pp. 337-341
    • Mandel, H.1    Szargel, R.2    Labay, V.3
  • 52
    • 0036714964 scopus 로고    scopus 로고
    • Mitochondrial DNA depletion and dGK gene mutations
    • Salviati L, Sacconi S, Mancuso M, et al. Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol 2002;52:311-7.
    • (2002) Ann Neurol , vol.52 , pp. 311-317
    • Salviati, L.1    Sacconi, S.2    Mancuso, M.3
  • 53
    • 0034193996 scopus 로고    scopus 로고
    • The biosynthesis and functional role of cardiolipin
    • Schlame M, Rua D, Greenberg ML. The biosynthesis and functional role of cardiolipin. Prog Lipid Res 2000;39:257-88.
    • (2000) Prog Lipid Res , vol.39 , pp. 257-288
    • Schlame, M.1    Rua, D.2    Greenberg, M.L.3
  • 56
    • 0037099608 scopus 로고    scopus 로고
    • The protein import motor of mitochondria: A targeted molecular ratchet driving unfolding and translocation
    • Okamoto K, Brinker A, Paschen SA, et al. The protein import motor of mitochondria: a targeted molecular ratchet driving unfolding and translocation. EMBO J 2002;21:3659-71.
    • (2002) EMBO J , vol.21 , pp. 3659-3671
    • Okamoto, K.1    Brinker, A.2    Paschen, S.A.3
  • 57
    • 0029075554 scopus 로고
    • Mitochondrial protein transport - A system in search of mutations
    • Fenton WA. Mitochondrial protein transport - a system in search of mutations. Am J Hum Genet 1995;57:235-8.
    • (1995) Am J Hum Genet , vol.57 , pp. 235-238
    • Fenton, W.A.1
  • 58
    • 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 SP, Tranebjaerg L, Koehler CM. Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. Hum Mol Genet 2002;11:477-86.
    • (2002) Hum Mol Genet , vol.11 , pp. 477-486
    • Roesch, K.1    Curran, S.P.2    Tranebjaerg, L.3    Koehler, C.M.4
  • 59
    • 0036241765 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60
    • Hansen JJ, Durr A, Cournu-Rebeix I, et al. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet 2002;70:1328-32.
    • (2002) Am J Hum Genet , vol.70 , pp. 1328-1332
    • Hansen, J.J.1    Durr, A.2    Cournu-Rebeix, I.3
  • 60
    • 0035853076 scopus 로고    scopus 로고
    • Arp2/3 complex and actin dynamics are required for actin-based mitochondrial motility in yeast
    • Boldogh IR, Yang HC, Nowakowski WD, et al. Arp2/3 complex and actin dynamics are required for actin-based mitochondrial motility in yeast. Proc Natl Acad Sci U S A 2001;98:3162-7.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , pp. 3162-3167
    • Boldogh, I.R.1    Yang, H.C.2    Nowakowski, W.D.3
  • 61
    • 0033772264 scopus 로고    scopus 로고
    • OPA1, eneoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
    • Alexander C, Votruba M, Pesch UE, et al. OPA1, eneoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 2000;26:211-5.
    • (2000) Nat Genet , vol.26 , pp. 211-215
    • Alexander, C.1    Votruba, M.2    Pesch, U.E.3
  • 62
    • 20244381365 scopus 로고    scopus 로고
    • Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
    • Delettre C, Lenaers G, Griffoin JM, et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 2000;26:207-10.
    • (2000) Nat Genet , vol.26 , pp. 207-210
    • Delettre, C.1    Lenaers, G.2    Griffoin, J.M.3
  • 63
    • 0036472291 scopus 로고    scopus 로고
    • Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia
    • Cavadini P, O'Neill HA, Benada O, Isaya G. Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia. Hum Mol Genet 2002;11:217-27.
    • (2002) Hum Mol Genet , vol.11 , pp. 217-227
    • Cavadini, P.1    O'Neill, H.A.2    Benada, O.3    Isaya, G.4
  • 64
    • 0032511186 scopus 로고    scopus 로고
    • Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
    • Casari G, De Fusco M, Ciarmatori S, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998;93:973-83.
    • (1998) Cell , vol.93 , pp. 973-983
    • Casari, G.1    De Fusco, M.2    Ciarmatori, S.3
  • 65
    • 0032568610 scopus 로고    scopus 로고
    • Localization of the Wilson's disease protein product to mitochondria
    • Lutsenko S, Cooper MJ. Localization of the Wilson's disease protein product to mitochondria. Proc Natl Acad Sci U S A 1998;95:6004-9.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 6004-6009
    • Lutsenko, S.1    Cooper, M.J.2
  • 67
    • 0036843935 scopus 로고    scopus 로고
    • Mitochondrial abnormalities in muscle and other aging cells: Classification, causes, and effects
    • DiMauro S, Tanji K, Bonilla E, Pallotti F, Schon EA. Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects. Muscle Nerve 2002;26:597-607.
    • (2002) Muscle Nerve , vol.26 , pp. 597-607
    • DiMauro, S.1    Tanji, K.2    Bonilla, E.3    Pallotti, F.4    Schon, E.A.5
  • 68
    • 0037314215 scopus 로고    scopus 로고
    • Neuronal degeneration and mitochondrial dysfunction
    • Schon EA, Manfredi G. Neuronal degeneration and mitochondrial dysfunction. J Clin Invest 2003;111:303-12.
    • (2003) J Clin Invest , vol.111 , pp. 303-312
    • Schon, E.A.1    Manfredi, G.2
  • 69
    • 0034444472 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathies: Therapeutic approaches
    • DiMauro S, Hirano M, Schon EA. Mitochondrial encephalomyopathies: therapeutic approaches. Neurol Sci 2000;21:8901-8908.
    • (2000) Neurol Sci , vol.21 , pp. 8901-8908
    • DiMauro, S.1    Hirano, M.2    Schon, E.A.3
  • 71
    • 0033515548 scopus 로고    scopus 로고
    • Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene
    • Manfredi G, Gupta N, Vazquez-Memije ME, et al. Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene. J Biol Chem 1999;274:9386-91.
    • (1999) J Biol Chem , vol.274 , pp. 9386-9391
    • Manfredi, G.1    Gupta, N.2    Vazquez-Memije, M.E.3
  • 72
    • 0030926104 scopus 로고    scopus 로고
    • Reversal of a mitochondrial DNA defect in human skeletal muscle
    • Clark KM, Bindoff LA, Lightowlers RN, et al. Reversal of a mitochondrial DNA defect in human skeletal muscle. Nat Genet 1997;16:222-4.
    • (1997) Nat Genet , vol.16 , pp. 222-224
    • Clark, K.M.1    Bindoff, L.A.2    Lightowlers, R.N.3
  • 73
    • 0036420547 scopus 로고    scopus 로고
    • Gene therapy for mitochondrial disease by delivering restriction endonuclease Smal into mitochondria
    • Tanaka M, Borgeld HJ, Zhang J, et al. Gene therapy for mitochondrial disease by delivering restriction endonuclease Smal into mitochondria. J Biomed Sci 2002;9:534-41.
    • (2002) J Biomed Sci , vol.9 , pp. 534-541
    • Tanaka, M.1    Borgeld, H.J.2    Zhang, J.3
  • 74
    • 0036544631 scopus 로고    scopus 로고
    • Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus
    • Manfredi G, Fu J, Ojaimi J, et al. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Nat Genet 2002;30:394-9.
    • (2002) Nat Genet , vol.30 , pp. 394-399
    • Manfredi, G.1    Fu, J.2    Ojaimi, J.3
  • 75
    • 0036830565 scopus 로고    scopus 로고
    • Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy
    • Guy J, Qi X, Pallotti F, et al. Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy. Ann Neurol 2002;52:534-42.
    • (2002) Ann Neurol , vol.52 , pp. 534-542
    • Guy, J.1    Qi, X.2    Pallotti, F.3
  • 76
    • 0036855408 scopus 로고    scopus 로고
    • An algal nucleus-encoded subunit of mitochondrial ATP synthase rescues a defect in the analogous human mitochondrial-encoded subunit
    • Ojaimi J, Pan J, Santra S, Snell WJ, Schon EA. An algal nucleus-encoded subunit of mitochondrial ATP synthase rescues a defect in the analogous human mitochondrial-encoded subunit. Mol Biol Cell 2002;13:3836-44.
    • (2002) Mol Biol Cell , vol.13 , pp. 3836-3844
    • Ojaimi, J.1    Pan, J.2    Santra, S.3    Snell, W.J.4    Schon, E.A.5
  • 77
    • 0035914437 scopus 로고    scopus 로고
    • Lack of complex I activity in human cells carrying a mutation in MtDNA-encoded ND4 subunit is corrected by the Saccharomyces cerevisiae NADH-quinone oxidoreductase (NDII) gene
    • Bai Y, Hajek P, Chomyn A, et al. Lack of complex I activity in human cells carrying a mutation in MtDNA-encoded ND4 subunit is corrected by the Saccharomyces cerevisiae NADH-quinone oxidoreductase (NDII) gene. J Biol Chem 2001;276:38808-13.
    • (2001) J Biol Chem , vol.276 , pp. 38808-38813
    • Bai, Y.1    Hajek, P.2    Chomyn, A.3
  • 79
    • 18544374728 scopus 로고    scopus 로고
    • Altered thymidine metabolism due to defects of thymidine phosphorylase
    • Spinazzola A, Marti R, Nishino I, et al. Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem 2002;277:4128-33.
    • (2002) J Biol Chem , vol.277 , pp. 4128-4133
    • Spinazzola, A.1    Marti, R.2    Nishino, I.3
  • 80
    • 0035894664 scopus 로고    scopus 로고
    • Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts
    • Jaksch M, Paret C, Stucka R, et al. Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Hum Mol Genet 2001;10:3025-35.
    • (2001) Hum Mol Genet , vol.10 , pp. 3025-3035
    • Jaksch, M.1    Paret, C.2    Stucka, R.3
  • 81
    • 0037090630 scopus 로고    scopus 로고
    • Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations
    • Salviati L, Hernandez-Rosa E, Walker WF, et al. Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations. Biochem J 2002;363:321-7.
    • (2002) Biochem J , vol.363 , pp. 321-327
    • Salviati, L.1    Hernandez-Rosa, E.2    Walker, W.F.3
  • 82
    • 78651126508 scopus 로고
    • A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical, and morphological study
    • Luft R, Ikkos D, Palmieri G, Ernster L, Afzelius B. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study. J Clin Invest 1962;41:1776-804.
    • (1962) J Clin Invest , vol.41 , pp. 1776-1804
    • Luft, R.1    Ikkos, D.2    Palmieri, G.3    Ernster, L.4    Afzelius, B.5
  • 83
    • 0016921885 scopus 로고
    • Luft's disease: Further biochemical and ultra-structural studies of skeletal muscle in the second case
    • DiMauro S, Bonilla E, Lee CP, et al. Luft's disease: further biochemical and ultra-structural studies of skeletal muscle in the second case. J Neurol Sci 1976;27:212-32.
    • (1976) J Neurol Sci , vol.27 , pp. 212-232
    • DiMauro, S.1    Bonilla, E.2    Lee, C.P.3
  • 84
    • 0028558576 scopus 로고
    • The development of mitochondrial medicine
    • Luft R. The development of mitochondrial medicine. Proc Natl Acad Sci U S A 1994;91:8731-8.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 8731-8738
    • Luft, R.1


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