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Volumn 21, Issue 3, 2001, Pages 261-267

Nuclear gene defects in respiratory chain disorders

Author keywords

Cardiomyopathy; Encephalopathy; Leigh syndrome; Mitochondrial disease; Respiratory chain

Indexed keywords

CELL NUCLEUS DNA; MITOCHONDRIAL DNA; MITOCHONDRIAL ENZYME;

EID: 0034774689     PISSN: 02718235     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2001-17943     Document Type: Review
Times cited : (17)

References (62)
  • 7
    • 0032490099 scopus 로고    scopus 로고
    • Human complex I deficiency: Clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect
    • (1998) Biochim Biophys Acta , vol.1364 , pp. 271-286
    • Robinson, B.H.1
  • 23
    • 0033362085 scopus 로고    scopus 로고
    • An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy
    • (1999) Am J Hum Genet , vol.64 , pp. 1330-1339
    • Clark, K.M.1    Taylor, R.W.2    Johnson, M.A.3
  • 28
    • 0031788095 scopus 로고    scopus 로고
    • A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy
    • (1998) J Med Genet , vol.35 , pp. 895-900
    • Jaksch, M.1    Hofmann, S.2    Kleinle, S.3
  • 33
    • 17344362021 scopus 로고    scopus 로고
    • SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
    • (1998) Nat Genet , vol.20 , pp. 337-343
    • Zhu, Z.1    Yao, J.2    Johns, T.3
  • 40
    • 0032760675 scopus 로고    scopus 로고
    • Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency
    • (1999) Hum Mol Genet , vol.8 , pp. 2541-2549
    • Yao, J.1    Shoubridge, E.A.2
  • 49
  • 62
    • 0032511186 scopus 로고    scopus 로고
    • Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
    • (1998) Cell , vol.93 , pp. 973-983
    • Casari, G.1    De Fusco, M.2    Ciarmatori, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.