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Volumn 50, Issue , 1999, Pages 111-127

Mitochondrial disorders: Clinical and genetic features

Author keywords

Mitochondria; Mitochondrial DNA; Mutation; Oxidative phosphorylation

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0032980279     PISSN: 00664219     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.med.50.1.111     Document Type: Review
Times cited : (140)

References (96)
  • 2
    • 78651121728 scopus 로고
    • Intramitochondrial fibers with DNA characteristics
    • 2. Nass S, Naas MMK. 1963. Intramitochondrial fibers with DNA characteristics. J. Cell Biol. 19:613-29
    • (1963) J. Cell Biol. , vol.19 , pp. 613-629
    • Nass, S.1    Naas, M.M.K.2
  • 4
    • 0019423856 scopus 로고
    • Sequence and organization of the human mitochondrial genome
    • 4. Anderson S, Bankier AT, Barrell BG, et al. 1981. Sequence and organization of the human mitochondrial genome. Nature 290:457-65
    • (1981) Nature , vol.290 , pp. 457-465
    • Anderson, S.1    Bankier, A.T.2    Barrell, B.G.3
  • 5
    • 0029997198 scopus 로고    scopus 로고
    • Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanow establishes the authenticity of the remains of Tsar Nicholas II
    • 5. Ivanov PL, Wadhams MJ, Roby RK, et al. 1996. Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanow establishes the authenticity of the remains of Tsar Nicholas II. Nat. Genet.. 12:417-20
    • (1996) Nat. Genet. , vol.12 , pp. 417-420
    • Ivanov, P.L.1    Wadhams, M.J.2    Roby, R.K.3
  • 6
    • 0024601360 scopus 로고
    • An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
    • 6. Zeviani M, Servidei S, Gellera C, et al. 1989. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 339:309-11
    • (1989) Nature , vol.339 , pp. 309-311
    • Zeviani, M.1    Servidei, S.2    Gellera, C.3
  • 7
    • 0031882208 scopus 로고    scopus 로고
    • Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogenesis
    • 7. Carrozzo R, Hirano M, Fromenty B, et al. 1998. Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogenesis. Neurology 50:99-106
    • (1998) Neurology , vol.50 , pp. 99-106
    • Carrozzo, R.1    Hirano, M.2    Fromenty, B.3
  • 8
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • 8. Wallace DC, Singh G, Lott MT, et al. 1988. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242:1427-30
    • (1988) Science , vol.242 , pp. 1427-1430
    • Wallace, D.C.1    Singh, G.2    Lott, M.T.3
  • 9
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • 9. Holt IJ, Harding AE, Morgan-Hughes JA. 1988. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331:717-19
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 10
    • 0023877476 scopus 로고
    • Kearnes-Sayre syndrome with muscle mitochondrial DNA deletion
    • 10. Lestienne P, Ponsot G. 1988. Kearnes-Sayre syndrome with muscle mitochondrial DNA deletion. Lancet 1:885
    • (1988) Lancet , vol.1 , pp. 885
    • Lestienne, P.1    Ponsot, G.2
  • 11
    • 0023813744 scopus 로고
    • Deletions of mitochondrial DNA in Kearns-Sayre syndrome
    • 11. Zeviani M, Morales CT, DiMauro S, et al. 1988. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38: 1339-46
    • (1988) Neurology , vol.38 , pp. 1339-1346
    • Zeviani, M.1    Morales, C.T.2    DiMauro, S.3
  • 12
    • 0024499802 scopus 로고
    • Duplications of mitochondrial DNA in mitochondrial myopathy
    • 12. Poulton J, Deadman ME, Gardiner RM. 1989. Duplications of mitochondrial DNA in mitochondrial myopathy. Lancet 1:236-40
    • (1989) Lancet , vol.1 , pp. 236-240
    • Poulton, J.1    Deadman, M.E.2    Gardiner, R.M.3
  • 13
    • 0028558576 scopus 로고
    • The development of mitochondrial medicine
    • 13. Luft R. 1994. The development of mitochondrial medicine. Proc. Natl. Acad. Sci. USA 91:8731-38
    • (1994) Proc. Natl. Acad. Sci. USA , vol.91 , pp. 8731-8738
    • Luft, R.1
  • 14
    • 0029638664 scopus 로고
    • Mitochondrial DNA and disease
    • 14. Johns DR. 1995. Mitochondrial DNA and disease. N. Engl. J. Med. 333: 638-44
    • (1995) N. Engl. J. Med. , vol.333 , pp. 638-644
    • Johns, D.R.1
  • 15
    • 0026587335 scopus 로고
    • 15. Wallace DC. 1992. Mitochondrial genetics: a paradigm for aging and degenerative diseases? Science 256:628-32
    • (1992) Science , vol.256 , pp. 628-632
    • Wallace, D.C.1
  • 16
    • 0000996534 scopus 로고
    • Genotype-specific phenotypes in Leber hereditary optic neuropathy
    • 16. Johns DR. 1994. Genotype-specific phenotypes in Leber hereditary optic neuropathy. Clin. Neurosci. 2:146-50
    • (1994) Clin. Neurosci. , vol.2 , pp. 146-150
    • Johns, D.R.1
  • 17
    • 0029029478 scopus 로고
    • MtDNA mutations in Leber's hereditary optic neuropathy
    • 17. Savontaus ML. 1995. MtDNA mutations in Leber's hereditary optic neuropathy. Biochim. Biophys. Acta 1271:261-63
    • (1995) Biochim. Biophys. Acta , vol.1271 , pp. 261-263
    • Savontaus, M.L.1
  • 18
    • 0026036025 scopus 로고
    • Alternative, simultaneous mutations in Leber's hereditary optic neuropathy
    • 18. Johns DR, Berman J. 1991. Alternative, simultaneous mutations in Leber's hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 174:1324-30
    • (1991) Biochem. Biophys. Res. Commun. , vol.174 , pp. 1324-1330
    • Johns, D.R.1    Berman, J.2
  • 19
    • 0031034482 scopus 로고    scopus 로고
    • Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage
    • 19. Brown MD, Sun F, Wallace DC. 1997. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am. J. Hum. Genet. 60:381-87
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 381-387
    • Brown, M.D.1    Sun, F.2    Wallace, D.C.3
  • 20
    • 0026034238 scopus 로고
    • Optic atrophy in Leber hereditary optic neuropathy is probably determined by an X-chromosomal gene closely linked to DXS7
    • 20. Vilkki J, Ott J, Savontaus ML, et al. 1991. Optic atrophy in Leber hereditary optic neuropathy is probably determined by an X-chromosomal gene closely linked to DXS7. Am. J. Hum. Genet. 48:486-91
    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 486-491
    • Vilkki, J.1    Ott, J.2    Savontaus, M.L.3
  • 21
    • 0027493447 scopus 로고
    • Identical twins who are discordant for Leber's hereditary optic neuropathy
    • 21. Johns DR, Smith KH, Miller NR, et al. 1993. Identical twins who are discordant for Leber's hereditary optic neuropathy. Arch. Ophthalmol. 111:1491-94
    • (1993) Arch. Ophthalmol. , vol.111 , pp. 1491-1494
    • Johns, D.R.1    Smith, K.H.2    Miller, N.R.3
  • 22
    • 0027520465 scopus 로고
    • Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia
    • 22. Cullom ME, Heher KL, Mille NR, et al. 1993. Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia. Arch. Ophthalmol. 111: 1482-85
    • (1993) Arch. Ophthalmol. , vol.111 , pp. 1482-1485
    • Cullom, M.E.1    Heher, K.L.2    Mille, N.R.3
  • 23
    • 0021143782 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: A distinctive clinical syndrome
    • 23. Pavlakis SG, Phillips PC, DiMauro S, et al. 1984. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome. Ann. Neurol. 16:481-88
    • (1984) Ann. Neurol. , vol.16 , pp. 481-488
    • Pavlakis, S.G.1    Phillips, P.C.2    DiMauro, S.3
  • 24
    • 0027190874 scopus 로고
    • Clinical features associated with the A - G transition at nucleotide 8344 of mtDNA ("MERRF mutation")
    • 24. Silvestri G, Ciafaloni E, Santorelli FM, et al. 1993. Clinical features associated with the A - G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). Neurology 43:1200-6
    • (1993) Neurology , vol.43 , pp. 1200-1206
    • Silvestri, G.1    Ciafaloni, E.2    Santorelli, F.M.3
  • 25
    • 0026688649 scopus 로고
    • A new mtDNA mutation in the rRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)
    • 25. Silvestri G, Moraes CT, Shanske S, et al. 1992. A new mtDNA mutation in the rRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am. J. Hum. Genet. 51: 1213-17
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 1213-1217
    • Silvestri, G.1    Moraes, C.T.2    Shanske, S.3
  • 26
    • 0031026069 scopus 로고    scopus 로고
    • Myoclonus epilepsy associated with ragged-red fibers: A G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families
    • 26. Ozawa M, Nishino I, Horai S, et al. 1997. Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families. Muscle Nerve 20:271-78
    • (1997) Muscle Nerve , vol.20 , pp. 271-278
    • Ozawa, M.1    Nishino, I.2    Horai, S.3
  • 27
    • 0027865639 scopus 로고
    • A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA (Lys) gene
    • 27. Zeviani M, Muntoni F, Savarese N, et al. 1993. A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA (Lys) gene. Eur. J. Hum. Genet. 1:80-87
    • (1993) Eur. J. Hum. Genet. , vol.1 , pp. 80-87
    • Zeviani, M.1    Muntoni, F.2    Savarese, N.3
  • 28
    • 0027145131 scopus 로고
    • Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR) gene an etiologic hot spot?
    • 28. Moraes CT, Ciacci F, Bonilla E, et al. 1993. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? J. Clin, Invest 92:2906-15
    • (1993) J. Clin. Invest , vol.92 , pp. 2906-2915
    • Moraes, C.T.1    Ciacci, F.2    Bonilla, E.3
  • 29
  • 30
    • 0029145589 scopus 로고
    • A novel point mutation in the mitochondrial tRNA(Ser(UCN) gene detected in a family with MERRF/MELAS overlap syndrome
    • 30. Nakamura M, Nakano S, Goto Y, et al. 1995. A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. Biochem. Biophys. Res. Commun. 214:86-93
    • (1995) Biochem. Biophys. Res. Commun. , vol.214 , pp. 86-93
    • Nakamura, M.1    Nakano, S.2    Goto, Y.3
  • 31
    • 0027525492 scopus 로고
    • Mitochondrial encephalomyopathies
    • 31. DiMauro S, Moraes CT. 1993. Mitochondrial encephalomyopathies. Arch. Neurol. 50:1197-208
    • (1993) Arch. Neurol. , vol.50 , pp. 1197-1208
    • DiMauro, S.1    Moraes, C.T.2
  • 32
    • 0027335882 scopus 로고
    • Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA
    • 32. Moraes CT, Ciacci F, Silvestri G, et al. 1993. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromuscul. Disord. 3:43-50
    • (1993) Neuromuscul. Disord. , vol.3 , pp. 43-50
    • Moraes, C.T.1    Ciacci, F.2    Silvestri, G.3
  • 33
    • 0024596946 scopus 로고
    • A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA
    • 33. Schon EA, Rizzuto R, Moraes CT, et al. 1989. A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science 244:346-49
    • (1989) Science , vol.244 , pp. 346-349
    • Schon, E.A.1    Rizzuto, R.2    Moraes, C.T.3
  • 34
    • 0026765439 scopus 로고
    • Duplications of mitochondrial DNA: Implications for pathogenesis
    • 34. Poulton J. 1992. Duplications of mitochondrial DNA: implications for pathogenesis. J. Inherit. Metab. Dis. 15:487-98
    • (1992) J. Inherit. Metab. Dis. , vol.15 , pp. 487-498
    • Poulton, J.1
  • 36
    • 0027451284 scopus 로고
    • The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
    • 36. Santorelli FM, Shanske S, Macaya A, et al. 1993. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann. Neurol. 34: 827-34
    • (1993) Ann. Neurol. , vol.34 , pp. 827-834
    • Santorelli, F.M.1    Shanske, S.2    Macaya, A.3
  • 37
    • 0028810803 scopus 로고
    • Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene
    • 37. De Meirleir L, Seneca S, Lissens W, et al. 1995. Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. Pediatr. Neurol. 13: 242-46
    • (1995) Pediatr. Neurol. , vol.13 , pp. 242-246
    • De Meirleir, L.1    Seneca, S.2    Lissens, W.3
  • 38
    • 0029122341 scopus 로고
    • A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis
    • 38. Thyagarajan D, Shanske S, Vasquez-Memije M, et al. 1995. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann. Neurol. 38:468-72
    • (1995) Ann. Neurol. , vol.38 , pp. 468-472
    • Thyagarajan, D.1    Shanske, S.2    Vasquez-Memije, M.3
  • 39
    • 0028288558 scopus 로고
    • A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
    • 39. Reid FM, Vernham GA, Jacobs HT. 1994. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum. Mutat. 3:243-47
    • (1994) Hum. Mutat. , vol.3 , pp. 243-247
    • Reid, F.M.1    Vernham, G.A.2    Jacobs, H.T.3
  • 40
    • 0029119782 scopus 로고
    • Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA Ser(UCN) gene
    • 40. Tiranti V, Chariot P, Carella F, et al. 1995. Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA Ser(UCN) gene. Hum. Molec. Genet. 4:1421-27
    • (1995) Hum. Molec. Genet. , vol.4 , pp. 1421-1427
    • Tiranti, V.1    Chariot, P.2    Carella, F.3
  • 41
    • 0029962873 scopus 로고    scopus 로고
    • Maternally inherited cardiomyopathy and hearing loss associated with a novel point mutation in the mitochondrial tRNA(Lys) gene (G8363A)
    • 41. Santorelli FM, Mak S-C, El-Schahawi M, et al. 1996. Maternally inherited cardiomyopathy and hearing loss associated with a novel point mutation in the mitochondrial tRNA(Lys) gene (G8363A). Am. J. Hum. Genet. 58:933-39
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 933-939
    • Santorelli, F.M.1    Mak, S.-C.2    El-Schahawi, M.3
  • 42
    • 0027226069 scopus 로고
    • Mitochondial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
    • 42. Prezant TR, Agapian JV, Bohlman MC, et al. 1993. Mitochondial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet. 4:289-94
    • (1993) Nat. Genet. , vol.4 , pp. 289-294
    • Prezant, T.R.1    Agapian, J.V.2    Bohlman, M.C.3
  • 43
    • 0027218979 scopus 로고
    • A molecular basis for human hypersensitivity to aminoglycoside antibiotics
    • 43. Hutchin T, Haworth I, Higashi K, et al. 1993. A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucl. Acids Res. 21:4174-79
    • (1993) Nucl. Acids Res. , vol.21 , pp. 4174-4179
    • Hutchin, T.1    Haworth, I.2    Higashi, K.3
  • 44
    • 0030601096 scopus 로고    scopus 로고
    • Mutant mtDNA at 1555 A to G in 12S rRNA gene and hypersusceptibility of mitochondrial translation to streptomycin can be cotransferred to rho 0 HeLa cells
    • 44. Inoue K, Takai D, Soejima A, et al. 1996. Mutant mtDNA at 1555 A to G in 12S rRNA gene and hypersusceptibility of mitochondrial translation to streptomycin can be cotransferred to rho 0 HeLa cells. Biochem. Biophys. Res. Commun. 223: 496-501
    • (1996) Biochem. Biophys. Res. Commun. , vol.223 , pp. 496-501
    • Inoue, K.1    Takai, D.2    Soejima, A.3
  • 45
    • 0018712317 scopus 로고
    • A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction
    • 45. Pearson HA, Lobel JS, Kocoshis SA, et al. 1979. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J. Pediatr. 95: 976-84
    • (1979) J. Pediatr. , vol.95 , pp. 976-984
    • Pearson, H.A.1    Lobel, J.S.2    Kocoshis, S.A.3
  • 46
    • 0024590185 scopus 로고
    • Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome
    • 46. Rotig A, Colonna M, Bonnefont JP, et al. 1989. Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet 1 :902-3
    • (1989) Lancet , vol.1 , pp. 902-903
    • Rotig, A.1    Colonna, M.2    Bonnefont, J.P.3
  • 47
    • 0025968682 scopus 로고
    • Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mitochondrial DNA
    • 47. McShane MA, Hammans SR, Sweeney M, et al. 1991. Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mitochondrial DNA. Am. J. Hum. Genet. 48:39-42
    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 39-42
    • McShane, M.A.1    Hammans, S.R.2    Sweeney, M.3
  • 48
    • 0027447027 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and diabetes mellitus: Molecular genetic analysis and family study
    • 48. Onishi H, Inoue K, Osaka H, et al. 1993. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and diabetes mellitus: molecular genetic analysis and family study. J. Neurol. Sci. 114:205-8
    • (1993) J. Neurol. Sci. , vol.114 , pp. 205-208
    • Onishi, H.1    Inoue, K.2    Osaka, H.3
  • 49
    • 0026462744 scopus 로고
    • Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
    • 49. Reardon W, Ross RJ, Sweeney MG, et al. 1992. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 340:1376-79
    • (1992) Lancet , vol.340 , pp. 1376-1379
    • Reardon, W.1    Ross, R.J.2    Sweeney, M.G.3
  • 50
    • 0027511591 scopus 로고
    • Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene
    • 50. Gerbitz KD, Paprotta A, Jaksch M, et al. 1993. Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene. FEBS Lett. 321: 194-96
    • (1993) FEBS Lett. , vol.321 , pp. 194-196
    • Gerbitz, K.D.1    Paprotta, A.2    Jaksch, M.3
  • 51
    • 0027474253 scopus 로고
    • Mitochondrial gene mutation and insulin-deficient type of diabetes mellitus
    • 51. Kadowaki H, Tobe K, Mori Y, et al. 1993. Mitochondrial gene mutation and insulin-deficient type of diabetes mellitus. Lancet 341:893-94
    • (1993) Lancet , vol.341 , pp. 893-894
    • Kadowaki, H.1    Tobe, K.2    Mori, Y.3
  • 52
    • 0028918471 scopus 로고
    • Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects
    • 52. Anan R, Nakagawa M, Miyata M, et al. 1995. Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation 91:955-61
    • (1995) Circulation , vol.91 , pp. 955-961
    • Anan, R.1    Nakagawa, M.2    Miyata, M.3
  • 54
    • 0023615870 scopus 로고
    • Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder
    • 54. Bardosi A, Creutzfeldt W, DiMauro S, et al. 1987. Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol. 74-. 248-58
    • (1987) Acta Neuropathol. , vol.74 , pp. 248-258
    • Bardosi, A.1    Creutzfeldt, W.2    DiMauro, S.3
  • 55
    • 0028301915 scopus 로고
    • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
    • 55. Hirano M, Silvestri G, Blake DM, et al. 1994. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 44:721-27
    • (1994) Neurology , vol.44 , pp. 721-727
    • Hirano, M.1    Silvestri, G.2    Blake, D.M.3
  • 57
    • 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
    • 57. Jun AS, Brown MD, Wallace DC. 1994. 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 91:6206-10
    • (1994) Proc. Natl. Acad. Sci. USA , vol.91 , pp. 6206-6210
    • Jun, A.S.1    Brown, M.D.2    Wallace, D.C.3
  • 58
    • 0029967483 scopus 로고    scopus 로고
    • Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
    • 58. De Vries DD, Went LN, Bruyn GW, et al. 1996. 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. 58:703-11
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 703-711
    • De Vries, D.D.1    Went, L.N.2    Bruyn, G.W.3
  • 59
    • 0028900387 scopus 로고
    • A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological, and molecular genetic study
    • 59. Nelson I, Hanna MG, Alsanjari N, et al. 1995. A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study. Ann. Neurol. 37: 400-3
    • (1995) Ann. Neurol. , vol.37 , pp. 400-403
    • Nelson, I.1    Hanna, M.G.2    Alsanjari, N.3
  • 60
    • 0031253821 scopus 로고    scopus 로고
    • Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
    • 60. Rotig A, De Lonlay P, Chretien D, et al. 1997. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat. Genet. 17:215-17
    • (1997) Nat. Genet. , vol.17 , pp. 215-217
    • Rotig, A.1    De Lonlay, P.2    Chretien, D.3
  • 61
    • 0025274663 scopus 로고
    • Mitochondrial myopathy caused by long-term zidovudine therapy
    • 61. Dalakas MC, Illa I, Pezeshkpour GH, et al. 1990. Mitochondrial myopathy caused by long-term zidovudine therapy. N. Engl. J. Med 322:1098-105
    • (1990) N. Engl. J. Med , vol.322 , pp. 1098-1105
    • Dalakas, M.C.1    Illa, I.2    Pezeshkpour, G.H.3
  • 62
    • 0000787687 scopus 로고
    • Nuclear-encoded defects of the mitochondrial respiratory chain, including glutaric acidemia type II
    • ed. CR Scriver, WS Sly, D Valle, New York: McGraw-Hill
    • 62. Frerman FE, Goodman SI. 1995. Nuclear-encoded defects of the mitochondrial respiratory chain, including glutaric acidemia type II. In The Metabolic and Molecular Basis of Inherited Diseases, ed. CR Scriver, WS Sly, D Valle, 1:1611-29. New York: McGraw-Hill
    • (1995) The Metabolic and Molecular Basis of Inherited Diseases , vol.1 , pp. 1611-1629
    • Frerman, F.E.1    Goodman, S.I.2
  • 63
    • 0029125857 scopus 로고
    • Aging, energy, and oxidative stress in neurodegenerative diseases
    • 63. Beal MF. 1995. Aging, energy, and oxidative stress in neurodegenerative diseases. Ann. Neurol. 38:357-66
    • (1995) Ann. Neurol. , vol.38 , pp. 357-366
    • Beal, M.F.1
  • 64
    • 0028353005 scopus 로고
    • Cortical glucose metabolism in Parkinson's disease without dementia
    • 64. Eberling JL, Richardson BC, Reed BR, et al. 1994. Cortical glucose metabolism in Parkinson's disease without dementia. Neurobiol. Aging 15:329-35
    • (1994) Neurobiol. Aging , vol.15 , pp. 329-335
    • Eberling, J.L.1    Richardson, B.C.2    Reed, B.R.3
  • 65
    • 0028837250 scopus 로고
    • Proton MR spectroscopy of the brain in 14 patients with Parkinson disease
    • 65. Bowen BC, Block RE, Sanchez-Ramos J, et al. 1995. Proton MR spectroscopy of the brain in 14 patients with Parkinson disease. Am. J. Neuroradiol. 16:61-68
    • (1995) Am. J. Neuroradiol. , vol.16 , pp. 61-68
    • Bowen, B.C.1    Block, R.E.2    Sanchez-Ramos, J.3
  • 66
    • 0028068781 scopus 로고
    • Mitochondrial dysfunction in movement disorders
    • 66. Schulz JB, Beal MF. 1994. Mitochondrial dysfunction in movement disorders. Curr. Opin. Neurol. 7:333
    • (1994) Curr. Opin. Neurol. , vol.7 , pp. 333
    • Schulz, J.B.1    Beal, M.F.2
  • 67
    • 0029029471 scopus 로고
    • Modelling the effects of age-related mitochondrial DNA mutation accumulation; complex I deficiency, superoxide and cell death
    • 67. Cortopassi G, Wang E. 1995. Modelling the effects of age-related mitochondrial DNA mutation accumulation; Complex I deficiency, Superoxide and cell death. Biochim. Biophys. Acta 1271:171-76
    • (1995) Biochim. Biophys. Acta , vol.1271 , pp. 171-176
    • Cortopassi, G.1    Wang, E.2
  • 68
    • 0029751104 scopus 로고    scopus 로고
    • Oxidative stress and the pathogenesis of Parkinson's disease
    • 68. Jenner P, Olanow CW. 1996. Oxidative stress and the pathogenesis of Parkinson's disease. Neurology 47:S161 (Suppl. 3)
    • (1996) Neurology , vol.47 , Issue.SUPPL. 3
    • Jenner, P.1    Olanow, C.W.2
  • 69
    • 0029751103 scopus 로고    scopus 로고
    • The etiology of Parkinson's disease with emphasis on the MPTP story
    • 69. Langston JW. 1996. The etiology of Parkinson's disease with emphasis on the MPTP story. Neurology 47:S153-60
    • (1996) Neurology , vol.47
    • Langston, J.W.1
  • 70
    • 0029908226 scopus 로고    scopus 로고
    • Origin and functional consequences of the complex I defect in Parkinson's disease
    • 70. Swerdlow RH, Parks JK, Miller SW, et al. 1996. Origin and functional consequences of the complex I defect in Parkinson's disease. Ann. Neurol. 40:663-71
    • (1996) Ann. Neurol. , vol.40 , pp. 663-671
    • Swerdlow, R.H.1    Parks, J.K.2    Miller, S.W.3
  • 71
  • 72
    • 0028152717 scopus 로고
    • Oxidative damage to mitochondrial DNA is increased in Alzheimer's disease
    • 72. Meccoci P, MacGarvey U, Beal MF. 1994. Oxidative damage to mitochondrial DNA is increased in Alzheimer's disease. Ann. Neurol. 36:747-51
    • (1994) Ann. Neurol. , vol.36 , pp. 747-751
    • Meccoci, P.1    MacGarvey, U.2    Beal, M.F.3
  • 74
    • 12644257598 scopus 로고    scopus 로고
    • Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease
    • 74. Davis RE, Miller S, Herrnstadt C, et al. 1997. Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease. Proc. Natl. Acad. Sci. USA 94:4526-31
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 4526-4531
    • Davis, R.E.1    Miller, S.2    Herrnstadt, C.3
  • 75
    • 0031449003 scopus 로고    scopus 로고
    • Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes
    • 75. Hirano M, Shtilbans A, Mayeux R, et al. 1997. Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes. Proc. Natl. Acad Sci. USA 94: 14894-99
    • (1997) Proc. Natl. Acad Sci. USA , vol.94 , pp. 14894-14899
    • Hirano, M.1    Shtilbans, A.2    Mayeux, R.3
  • 77
    • 0027527023 scopus 로고
    • Oxidative damage to mitochondria DNA shows marked age-dependent increases in human brain
    • 77. Meccoci P, MacGarvey U, Kaufman AE, et al. 1993. Oxidative damage to mitochondria DNA shows marked age-dependent increases in human brain. Ann. Neurol. 34:609-16
    • (1993) Ann. Neurol. , vol.34 , pp. 609-616
    • Meccoci, P.1    MacGarvey, U.2    Kaufman, A.E.3
  • 78
    • 0026732706 scopus 로고
    • A pattern of accumulation of a somatic deletion of mtDNA in aging human tissues
    • 78. Cortopassi G, Shibata D, Soong N-W, Arnheim N. 1992. A pattern of accumulation of a somatic deletion of mtDNA in aging human tissues. Proc. Natl. Acad. Sci. USA 89:7370-74
    • (1992) Proc. Natl. Acad. Sci. USA , vol.89 , pp. 7370-7374
    • Cortopassi, G.1    Shibata, D.2    Soong, N.-W.3    Arnheim, N.4
  • 79
    • 0026471872 scopus 로고
    • Accumulation of deletions in human mitochondrial DNA during normal aging: Analysis by quantitative PCR
    • 79. Siamonetta S, Chen X, DiMauro S, Schon EA. 1992. Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR. Biochim. Biophys. Acta 1180:113-22
    • (1992) Biochim. Biophys. Acta , vol.1180 , pp. 113-122
    • Siamonetta, S.1    Chen, X.2    DiMauro, S.3    Schon, E.A.4
  • 80
    • 0030577222 scopus 로고    scopus 로고
    • Maternal inheritance and the evaluation of oxidative phosphorylation diseases
    • 80. Shoffher JM. 1996. Maternal inheritance and the evaluation of oxidative phosphorylation diseases. Lancet 348:1283-88
    • (1996) Lancet , vol.348 , pp. 1283-1288
    • Shoffher, J.M.1
  • 81
    • 0028936222 scopus 로고
    • Ragged red fibers in normal aging and inflammatory myopathy
    • 81. Rifai Z, Welle S, Kamp C, Thornton CA. 1995. Ragged red fibers in normal aging and inflammatory myopathy. Ann. Neurol. 37:24-29
    • (1995) Ann. Neurol. , vol.37 , pp. 24-29
    • Rifai, Z.1    Welle, S.2    Kamp, C.3    Thornton, C.A.4
  • 82
    • 0002634482 scopus 로고    scopus 로고
    • Treatment of mitochondrial encephalomyopathies
    • ed. MF Beal, N Howell, I Bodis-Wollner, New York: Wiley-Liss
    • 82. Fadic R, Johns DR. 1997. Treatment of mitochondrial encephalomyopathies. In Mitochondria and Free Radicals in Neurodegenerative Diseases, ed. MF Beal, N Howell, I Bodis-Wollner, pp. 537-55. New York: Wiley-Liss
    • (1997) Mitochondria and Free Radicals in Neurodegenerative Diseases , pp. 537-555
    • Fadic, R.1    Johns, D.R.2
  • 83
    • 0030823103 scopus 로고    scopus 로고
    • The diversity of coenzyme Q function
    • 83. Crane FL, Navas P. 1997. The diversity of coenzyme Q function. Mol. Aspects Med. 18:S1 (Suppl.)
    • (1997) Mol. Aspects Med. , vol.18 , Issue.SUPPL.
    • Crane, F.L.1    Navas, P.2
  • 84
    • 0021744023 scopus 로고
    • Inhibition of lipid peroxidation by a novel compond (CV-2619) in brain mitochondria and mode of action of the inhibition
    • 84. Suno M, Nagoka A. 1984. Inhibition of lipid peroxidation by a novel compond (CV-2619) in brain mitochondria and mode of action of the inhibition. Biochem. Biophys. Res. Commun. 125:1046-52
    • (1984) Biochem. Biophys. Res. Commun. , vol.125 , pp. 1046-1052
    • Suno, M.1    Nagoka, A.2
  • 85
    • 0025236799 scopus 로고
    • Idebenone attenuates neuronal degeneration induced by intrastriatal injection of excitotoxins
    • 85. Miyamoto M, Coyle JT. 1990. Idebenone attenuates neuronal degeneration induced by intrastriatal injection of excitotoxins. Exp. Neurol. 108:38-45
    • (1990) Exp. Neurol. , vol.108 , pp. 38-45
    • Miyamoto, M.1    Coyle, J.T.2
  • 86
    • 0028173480 scopus 로고
    • Coenzyme Q10 and nicotinamide block striatal lesions produced by the mitochondrial toxin malonate
    • 86. Beal MF, Henshaw R, Jenkins BG, et al. 1994. Coenzyme Q10 and nicotinamide block striatal lesions produced by the mitochondrial toxin malonate. Ann. Neurol. 36:882-86
    • (1994) Ann. Neurol. , vol.36 , pp. 882-886
    • Beal, M.F.1    Henshaw, R.2    Jenkins, B.G.3
  • 87
    • 0016285850 scopus 로고
    • Mechanism of activation of pyruvate dehydrogenase by dichloracetate and other halogenated carboxylic acids
    • 87. Whitehouse S, Cooper RH, Randle PJ. 1974. Mechanism of activation of pyruvate dehydrogenase by dichloracetate and other halogenated carboxylic acids. Biochem J. 141:761-74
    • (1974) Biochem J. , vol.141 , pp. 761-774
    • Whitehouse, S.1    Cooper, R.H.2    Randle, P.J.3
  • 88
    • 0031964359 scopus 로고    scopus 로고
    • Neuroprotective effects of creatine and cyclocreatine in animal models of Huntington's disease
    • 88. Matthews RT, Yang L, Jenkins BG, et al. 1998. Neuroprotective effects of creatine and cyclocreatine in animal models of Huntington's disease. J. Neurosci. 18: 156-63
    • (1998) J. Neurosci. , vol.18 , pp. 156-163
    • Matthews, R.T.1    Yang, L.2    Jenkins, B.G.3
  • 90
    • 0020514803 scopus 로고
    • NADH-CoQ reductase deficient myopathy: Successful treatment with riboflavin
    • 90. Arts WF, Scholte HR, Bogaard JM, et al. 1983. NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin. Lancet 2:581-82
    • (1983) Lancet , vol.2 , pp. 581-582
    • Arts, W.F.1    Scholte, H.R.2    Bogaard, J.M.3
  • 92
    • 0030839661 scopus 로고    scopus 로고
    • Antioxidants and atherosclerotic heart disease
    • 92. Diaz MN, Frei B, Vita JA. 1997. Antioxidants and atherosclerotic heart disease. N. Engl. J. Med. 337:408-16
    • (1997) N. Engl. J. Med. , vol.337 , pp. 408-416
    • Diaz, M.N.1    Frei, B.2    Vita, J.A.3
  • 93
    • 0027530638 scopus 로고
    • Effects of tocopherol and deprenyl on the progression of disability in early Parkinson's disease
    • 93. Parkinson Study Group. 1993. Effects of tocopherol and deprenyl on the progression of disability in early Parkinson's disease. N. Engl. J. Med. 328:176-83
    • (1993) N. Engl. J. Med. , vol.328 , pp. 176-183
  • 94
    • 0029809527 scopus 로고    scopus 로고
    • Alpha-tocopherol in the ventricular cerebrospinal fluid of Parkinson's disease patients: Dose-response study and correlations with plasma levels
    • 94. Pappert EJ, Tagney CC, Goetz CG, et al. 1996. Alpha-tocopherol in the ventricular cerebrospinal fluid of Parkinson's disease patients: dose-response study and correlations with plasma levels. Neurology 47: 1037-42
    • (1996) Neurology , vol.47 , pp. 1037-1042
    • Pappert, E.J.1    Tagney, C.C.2    Goetz, C.G.3
  • 95
    • 0031038812 scopus 로고    scopus 로고
    • Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids
    • 95. Taylor RW, Chinnery PF, Turnbull DM, Lightowlers RN. 1997. Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. Nat. Genet. 15:212-15
    • (1997) Nat. Genet. , vol.15 , pp. 212-215
    • Taylor, R.W.1    Chinnery, P.F.2    Turnbull, D.M.3    Lightowlers, R.N.4
  • 96
    • 0030926104 scopus 로고    scopus 로고
    • Reversal of a mitochondrial DNA defect in human skeletal muscle
    • 96. Clark KM, Bindoff LA, Lightowlers RN, et al. 1997. Reversal of a mitochondrial DNA defect in human skeletal muscle. Nat. Genet. 16:222-2428
    • (1997) Nat. Genet. , vol.16 , pp. 222-2428
    • Clark, K.M.1    Bindoff, L.A.2    Lightowlers, R.N.3


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