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Volumn 45, Issue 6, 1999, Pages 693-694

Mitochondrial encephalomyopathies: Back to Mendelian genetics

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

EID: 0032975892     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199906)45:6<693::aid-ana2>3.0.co;2-%23     Document Type: Editorial
Times cited : (32)

References (20)
  • 1
    • 78651128209 scopus 로고
    • Intramitochondrial fibers with DNA characteristics
    • Nass S, Nass MMK. Intramitochondrial fibers with DNA characteristics. J Cell Biol 1963;19:593-629
    • (1963) J Cell Biol , vol.19 , pp. 593-629
    • Nass, S.1    Nass, M.M.K.2
  • 2
    • 85080541508 scopus 로고
    • Sequence and organization of the human mitochondrial genome
    • Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Science 1981; 290:447-465
    • (1981) Science , vol.290 , pp. 447-465
    • Anderson, S.1    Bankier, A.T.2    Barrell, B.G.3
  • 3
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717-719
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 4
    • 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;242:1427-1430
    • (1988) Science , vol.242 , pp. 1427-1430
    • Wallace, D.C.1    Singh, G.2    Lott, M.T.3
  • 5
    • 0028558576 scopus 로고
    • The development of mitochondrial medicine
    • Luft R. The development of mitochondrial medicine. Proc Natl Acad Sci U S A 1994;91:8731-8738
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 8731-8738
    • Luft, R.1
  • 6
    • 0031814491 scopus 로고    scopus 로고
    • Mitochondrial DNA and diseases of the nervous system: The spectrum
    • DiMauro S, Schon EA. Mitochondrial DNA and diseases of the nervous system: the spectrum. The Neuroscientist 1998;4: 53-63
    • (1998) The Neuroscientist , vol.4 , pp. 53-63
    • DiMauro, S.1    Schon, E.A.2
  • 7
    • 0033013692 scopus 로고    scopus 로고
    • Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene
    • Andreu AL, Tanji K, Bruno C, et al. Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene. Ann Neurol 1999;45:820-823
    • (1999) Ann Neurol , vol.45 , pp. 820-823
    • Andreu, A.L.1    Tanji, K.2    Bruno, C.3
  • 8
    • 0027451284 scopus 로고
    • The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
    • Santorelli FM, Shanske S, Macaya A, et al. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 1993;34:827-834
    • (1993) Ann Neurol , vol.34 , pp. 827-834
    • Santorelli, F.M.1    Shanske, S.2    Macaya, A.3
  • 9
    • 0029891215 scopus 로고    scopus 로고
    • Genetic heterogeneity of Leigh syndrome
    • DiMauro S, De Vivo DC. Genetic heterogeneity of Leigh syndrome. Ann Neurol 1996;40:5-7
    • (1996) Ann Neurol , vol.40 , pp. 5-7
    • DiMauro, S.1    De Vivo, D.C.2
  • 10
    • 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;11:144-149
    • (1995) Nat Genet , vol.11 , pp. 144-149
    • Bourgeron, T.1    Rustin, P.2    Chretien, D.3
  • 11
    • 0033050180 scopus 로고    scopus 로고
    • Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
    • Triepels RH, van den Heuvel LP, Loeffen JLCM, et al. Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann Neurol 1999;45: 787-790
    • (1999) Ann Neurol , vol.45 , pp. 787-790
    • Triepels, R.H.1    Van Den Heuvel, L.P.2    Loeffen, J.L.C.M.3
  • 12
    • 0032471351 scopus 로고    scopus 로고
    • The first nuclear-encoded complex I mutation in a patient with Leigh syndrome
    • Loeffen J, Smeitink J, Triepels R, et al. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet 1998;63:1598-1608
    • (1998) Am J Hum Genet , vol.63 , pp. 1598-1608
    • Loeffen, J.1    Smeitink, J.2    Triepels, R.3
  • 13
    • 17344365132 scopus 로고    scopus 로고
    • Demonstration of a new pathogenic mutation in human complex I deficiency: A 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit
    • van den Heuvel L, Ruitenbeek W, Smeets R, et al. Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. Am J Hum Genet 1998;62:262-268
    • (1998) Am J Hum Genet , vol.62 , pp. 262-268
    • Van Den Heuvel, L.1    Ruitenbeek, W.2    Smeets, R.3
  • 14
    • 17344362021 scopus 로고    scopus 로고
    • SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
    • Zhu Z, Yao J, Johns T, et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 1998;20:337-343
    • (1998) Nat Genet , vol.20 , pp. 337-343
    • Zhu, Z.1    Yao, J.2    Johns, T.3
  • 15
    • 0032470811 scopus 로고    scopus 로고
    • Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
    • Tiranti V, Hoertnagel K, Carrozzo R, et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. AmJ Hum Genet 1998;63:1609-1621
    • (1998) AmJ Hum Genet , vol.63 , pp. 1609-1621
    • Tiranti, V.1    Hoertnagel, K.2    Carrozzo, R.3
  • 16
    • 0030813487 scopus 로고    scopus 로고
    • Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
    • Koutnikova H, Campuzano V, Foury F, et al. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet 1997;16:345-351
    • (1997) Nat Genet , vol.16 , pp. 345-351
    • Koutnikova, H.1    Campuzano, V.2    Foury, F.3
  • 17
    • 0031253821 scopus 로고    scopus 로고
    • Aconitase and mitochondrial iron-sulfur protein deficiency in Friedreich's ataxia
    • Rötig A, de Lonlay P, Chretien D, et al. Aconitase and mitochondrial iron-sulfur protein deficiency in Friedreich's ataxia. Nat Genet 1997;17:215-217
    • (1997) Nat Genet , vol.17 , pp. 215-217
    • Rötig, A.1    De Lonlay, P.2    Chretien, D.3
  • 18
    • 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 USA 1998;95:6004-6009
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 6004-6009
    • Lutsenko, S.1    Cooper, M.J.2
  • 19
    • 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: 973-983
    • (1998) Cell , vol.93 , pp. 973-983
    • Casari, G.1    De Fusco, M.2    Ciarmatori, S.3
  • 20
    • 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;283:689-692
    • (1999) Science , vol.283 , pp. 689-692
    • Nishino, I.1    Spinazzola, A.2    Hirano, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.