메뉴 건너뛰기




Volumn 20, Issue 6, 1999, Pages 401-408

Nuclear gene defects in mitochondrial disorders

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; DNA; FUNGAL PROTEIN; MEMBRANE PROTEIN; MITOCHONDRIAL PROTEIN; PROTEIN; SACCHAROMYCES CEREVISIAE PROTEIN; SHY1 PROTEIN, S CEREVISIAE; SURF 1 PROTEIN; SURF-1 PROTEIN;

EID: 0033290413     PISSN: 03920461     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100720050059     Document Type: Article
Times cited : (21)

References (26)
  • 5
    • 0033365348 scopus 로고    scopus 로고
    • A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia
    • Kaukonen J, Zeviani M, Comi GP, Piscaglia MG, Peltonen L, Suomalainen A. (1999) A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. Am J Hum Genet 65:256-261
    • (1999) Am J Hum Genet , vol.65 , pp. 256-261
    • Kaukonen, J.1    Zeviani, M.2    Comi, G.P.3    Piscaglia, M.G.4    Peltonen, L.5    Suomalainen, A.6
  • 6
    • 0033613865 scopus 로고    scopus 로고
    • Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
    • Nishino I, Spinazzola A, Hirano M (1999) Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283:689-692
    • (1999) Science , vol.283 , pp. 689-692
    • Nishino, I.1    Spinazzola, A.2    Hirano, M.3
  • 7
    • 0032471513 scopus 로고    scopus 로고
    • Getting to the nucleus of mitochondrial disorders: Identification of respiratory chain-enzyme genes causing Leigh syndrome
    • Dahl HH (1998) Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome. Am J Hum Genet. 63:1594-1597
    • (1998) Am J Hum Genet. , vol.63 , pp. 1594-1597
    • Dahl, H.H.1
  • 11
    • 0032534869 scopus 로고    scopus 로고
    • Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain
    • Petruzzella V, Tiranti V, Fernandez P, lanna P, Carrozzo R, Zeviani M (1998) Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. Genomics 54:494-504
    • (1998) Genomics , vol.54 , pp. 494-504
    • Petruzzella, V.1    Tiranti, V.2    Fernandez, P.3    Lanna, P.4    Carrozzo, R.5    Zeviani, M.6
  • 13
    • 0033054177 scopus 로고    scopus 로고
    • The Friedreich's ataxia mutation con-fers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis
    • Wong A, Yang J, Cavadini P, Gellera C, Lonnerdal B, Taroni F, Cortopassi G (1999) The Friedreich's ataxia mutation con-fers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis. Hum Mol Genet 8:425-430
    • (1999) Hum Mol Genet , vol.8 , pp. 425-430
    • Wong, A.1    Yang, J.2    Cavadini, P.3    Gellera, C.4    Lonnerdal, B.5    Taroni, F.6    Cortopassi, G.7
  • 15
    • 0000376151 scopus 로고
    • Subacute necrotizing encephalomyelopathy in an infant
    • Leigh D ( 1951) Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 14:216-221
    • (1951) J Neurol Neurosurg Psychiatry , vol.14 , pp. 216-221
    • Leigh, D.1
  • 16
    • 0029748322 scopus 로고    scopus 로고
    • Neurological presentations of mitochondrial diseases
    • Zeviani M, Bertagnolio B, Uziel G (1996) Neurological presentations of mitochondrial diseases. J Inherit Metab Dis 19:504-520
    • (1996) J Inherit Metab Dis , vol.19 , pp. 504-520
    • Zeviani, M.1    Bertagnolio, B.2    Uziel, G.3
  • 18
    • 0031058265 scopus 로고    scopus 로고
    • A single cell complementation class is common to several cases of cytochrome c oxidase defective Leigh's syndrome
    • Munaro M, Tiranti V, Sandonà D, Lamantea E, Uziel G, Bisson R, Zeviani M (1997) A single cell complementation class is common to several cases of cytochrome c oxidase defective Leigh's syndrome. Hum Mol Genet 6:221-228
    • (1997) Hum Mol Genet , vol.6 , pp. 221-228
    • Munaro, M.1    Tiranti, V.2    Sandonà, D.3    Lamantea, E.4    Uziel, G.5    Bisson, R.6    Zeviani, M.7
  • 19
    • 0029805243 scopus 로고    scopus 로고
    • Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome
    • Brown RM, Brown GK (1996) Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome. J Inherit Metab Dis 19:752-760
    • (1996) J Inherit Metab Dis , vol.19 , pp. 752-760
    • Brown, R.M.1    Brown, G.K.2
  • 21
    • 0031009910 scopus 로고    scopus 로고
    • SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration
    • Mashkevich G, Repetto B, Glerum DM, Jin C, Tzagoloff A (1997) SHY1, 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, D.M.3    Jin, C.4    Tzagoloff, A.5
  • 23
    • 0026409298 scopus 로고
    • Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form
    • Schagger H, von Jagow G (1991) Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form. Anal Biochem 199:223-231
    • (1991) Anal Biochem , vol.199 , pp. 223-231
    • Schagger, H.1    Von Jagow, G.2
  • 25
    • 0028038276 scopus 로고
    • Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox 10 mutant
    • Glerum DM, Tzagoloff A ( 1994) Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox 10 mutant. Proc Natl Acad Sei USA 91:8452-8456
    • (1994) Proc Natl Acad Sei USA , vol.91 , pp. 8452-8456
    • Glerum, D.M.1    Tzagoloff, A.2
  • 26
    • 15844421373 scopus 로고    scopus 로고
    • Characterization of COX 17, a yeast gene involved in copper metabolism and assembly of cytochrome oxidase
    • Glerum DM, Shtanko A, Tzagaloff A ( 1996) Characterization of COX 17, a yeast gene involved in copper metabolism and assembly of cytochrome oxidase. J Biol Chem 271:14504-14509
    • (1996) J Biol Chem , vol.271 , pp. 14504-14509
    • Glerum, D.M.1    Shtanko, A.2    Tzagaloff, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.