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Volumn 105, Issue 6, 1999, Pages 560-563

Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; TYROSINE;

EID: 0033372003     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004399900191     Document Type: Article
Times cited : (39)

References (10)
  • 2
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    • Conservation of the organization of five tightly clustered genes over 600 million years of divergent evolution
    • Colombo P, Yon J, Carson K, Fried M (1992) Conservation of the organization of five tightly clustered genes over 600 million years of divergent evolution. Proc Natl Acad Sci USA 89: 6358-6362
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 6358-6362
    • Colombo, P.1    Yon, J.2    Carson, K.3    Fried, M.4
  • 3
    • 0029891215 scopus 로고    scopus 로고
    • Genetic heterogeneity in Leigh syndrome
    • DiMauro S, De Vivo DC (1996) Genetic heterogeneity in Leigh syndrome. Ann Neurol 40:5-7
    • (1996) Ann Neurol , vol.40 , pp. 5-7
    • DiMauro, S.1    De Vivo, D.C.2
  • 4
    • 0031004868 scopus 로고    scopus 로고
    • Nuclear genes for cytochrome c oxidase
    • Grossman LI, Lomax MI (1997) Nuclear genes for cytochrome c oxidase. Biochim Biophys Acta 1352:174-192
    • (1997) Biochim Biophys Acta , vol.1352 , pp. 174-192
    • Grossman, L.I.1    Lomax, M.I.2
  • 5
    • 0031788095 scopus 로고    scopus 로고
    • A systematic screen of ten nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNAser(UCN) mutations in a subgroup with syndromal encephalopathy
    • Jaksch M, Hofmann S, Kleinle S, Liechti-Gallati S, Pongratz DE, Mueller-Hoecker J, Jedele KB, Meitinger T, Gerbitz KD (1998) A systematic screen of ten nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNAser(UCN) mutations in a subgroup with syndromal encephalopathy. J Med Genet 35:895-900
    • (1998) J Med Genet , vol.35 , pp. 895-900
    • Jaksch, M.1    Hofmann, S.2    Kleinle, S.3    Liechti-Gallati, S.4    Pongratz, D.E.5    Mueller-Hoecker, J.6    Jedele, K.B.7    Meitinger, T.8    Gerbitz, K.D.9
  • 6
    • 0031009910 scopus 로고    scopus 로고
    • SHYI, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration
    • Mashkevich G, Repetto B, Glerum M, Jin C, Tzagoloff (1997) SHYI, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration. J Biol Chem 272:14356-14364
    • (1997) J Biol Chem , vol.272 , pp. 14356-14364
    • Mashkevich, G.1    Repetto, B.2    Glerum, M.3    Jin, C.4
  • 7
    • 0029984584 scopus 로고    scopus 로고
    • Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome c oxidase subunits in chronic progressive external ophthalmoplegia
    • Taanman J-W, Burton M, Marusich M, Kennaway NG, Capaldi RA (1996) Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome c oxidase subunits in chronic progressive external ophthalmoplegia. Biochem Biophys Acta 1315:199-207
    • (1996) Biochem Biophys Acta , vol.1315 , pp. 199-207
    • Taanman, J.-W.1    Burton, M.2    Marusich, M.3    Kennaway, N.G.4    Capaldi, R.A.5
  • 9
    • 0344145471 scopus 로고
    • The mouse surfeit locus contains a very tight cluster of four "housekeeping" genes that is conserved through evolution
    • Williams T, Yon J, Huxley C, Fried M (1988) The mouse surfeit locus contains a very tight cluster of four "housekeeping" genes that is conserved through evolution. Proc Natl Acad Sci USA 85:3527-3530
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 3527-3530
    • Williams, T.1    Yon, J.2    Huxley, C.3    Fried, M.4
  • 10
    • 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, Fu K, De Bie I, Macmillan C, Cuthbert AP (1998) SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 20:337-343
    • (1998) Nat Genet , vol.20 , pp. 337-343
    • Zhu, Z.1    Yao, J.2    Johns, T.3    Fu, K.4    De Bie, I.5    Macmillan, C.6    Cuthbert, A.P.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.