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Volumn 95, Issue 9, 1996, Pages 709-711

Cytochrome C oxidase deficiency in fibroblasts of a patient with mitochondrial encephalomyopathy

Author keywords

cardiac arrhythmia; cytochrome c oxidase; encephalomyopathy; mitochondria; optic atrophy

Indexed keywords

CYTOCHROME C OXIDASE; THIAMINE; UBIQUINONE;

EID: 0030444312     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (9)

References (21)
  • 1
    • 0021345994 scopus 로고
    • Mitochondrial myopathy: Clinical, morphological and biochemical aspects
    • Sengers RCA, Stadhouders AM, Trijbels JMF. Mitochondrial myopathy: clinical, morphological and biochemical aspects. Eur J Pediatr 1984,141:192-207.
    • (1984) Eur J Pediatr , vol.141 , pp. 192-207
    • Sengers, R.C.A.1    Stadhouders, A.M.2    Trijbels, J.M.F.3
  • 2
    • 0025131092 scopus 로고
    • Cytochrome c oxidase deficiency
    • DiMauro S, Lombes A, Nakase H, et al: Cytochrome c oxidase deficiency Pediatr Res 1990;28:536-41.
    • (1990) Pediatr Res , vol.28 , pp. 536-541
    • DiMauro, S.1    Lombes, A.2    Nakase, H.3
  • 3
    • 0026539971 scopus 로고
    • Variable presentation of cytochrome c oxidase deficiency
    • Keppler K, Cunniff C: Variable presentation of cytochrome c oxidase deficiency. Am J Dis Child 1992;146:1349-52.
    • (1992) Am J Dis Child , vol.146 , pp. 1349-1352
    • Keppler, K.1    Cunniff, C.2
  • 4
    • 0026508114 scopus 로고
    • Cytochrome c oxidase-deficient mitochondria in mitochondrial myopathy
    • Haginoya K, Miyabayashi S, Iinuma K, et al: Cytochrome c oxidase-deficient mitochondria in mitochondrial myopathy. Pediatr Neurol 1992,8:13-8.
    • (1992) Pediatr Neurol , vol.8 , pp. 13-18
    • Haginoya, K.1    Miyabayashi, S.2    Iinuma, K.3
  • 5
    • 0024470348 scopus 로고
    • Tissue specificity in cytochrome c oxidase c deficient myopathy
    • Nonaka I, Koga Y, Ohtaki E, et al: Tissue specificity in cytochrome c oxidase c deficient myopathy. J Neurol Sci 1989;92:193-203.
    • (1989) J Neurol Sci , vol.92 , pp. 193-203
    • Nonaka, I.1    Koga, Y.2    Ohtaki, E.3
  • 6
    • 0025130052 scopus 로고
    • Mosaicism of mitochondrial myopathy: An electron microscopic analysis of cytochrome c oxidase
    • Haginoya K, Miyabayashi S, Iinuma K, et al: Mosaicism of mitochondrial myopathy: an electron microscopic analysis of cytochrome c oxidase. Acta Neuropathol 1990;80:642-8.
    • (1990) Acta Neuropathol , vol.80 , pp. 642-648
    • Haginoya, K.1    Miyabayashi, S.2    Iinuma, K.3
  • 7
    • 0014311556 scopus 로고
    • Non-droplet ultrastructural demonstration of cytochrome oxidase activity with a polimerising osmiophilic reagent diaminobenzidine (DAB)
    • Seligman AM, Karnovsky MJ, Wasserkrug HL, et al: Non-droplet ultrastructural demonstration of cytochrome oxidase activity with a polimerising osmiophilic reagent diaminobenzidine (DAB). J Cell Biol 1968;38:1-14.
    • (1968) J Cell Biol , vol.38 , pp. 1-14
    • Seligman, A.M.1    Karnovsky, M.J.2    Wasserkrug, H.L.3
  • 8
    • 0024814593 scopus 로고
    • Defective pattern of mitochondrial respiratory enzymes in mitochondrial myopathy
    • Miyabayashi S, Hagionoya K, Hanamizu H, et al: Defective pattern of mitochondrial respiratory enzymes in mitochondrial myopathy. J Inher Metab Dis 1989;12:373-7.
    • (1989) J Inher Metab Dis , vol.12 , pp. 373-377
    • Miyabayashi, S.1    Hagionoya, K.2    Hanamizu, H.3
  • 9
    • 0025123850 scopus 로고
    • The use of skin fibroblast cultures m the detection of respiratory chain defects in patients with lactic acidemia
    • Robinson BH, Glerum DM, Chow W, et al: The use of skin fibroblast cultures m the detection of respiratory chain defects in patients with lactic acidemia. Pediatr Res 1990;28:549-55.
    • (1990) Pediatr Res , vol.28 , pp. 549-555
    • Robinson, B.H.1    Glerum, D.M.2    Chow, W.3
  • 10
    • 0028314245 scopus 로고
    • Absence of cytochrome c oxidase activity in a boy with dysfunction of renal tubules, brain and muscle
    • Das AM, Schweitzer-Kfantz S, Byrd DJ, et al: Absence of cytochrome c oxidase activity in a boy with dysfunction of renal tubules, brain and muscle. Eur J Pediatr 1994;153:267-70.
    • (1994) Eur J Pediatr , vol.153 , pp. 267-270
    • Das, A.M.1    Schweitzer-Kfantz, S.2    Byrd, D.J.3
  • 11
    • 0022471112 scopus 로고
    • Mitochondrial myopathy : Tissue specific expression of a defect in ubiquinal cytochrome c reductase
    • Darley-Usmar VM, Watanabe M, Uchiyama Y, et al: Mitochondrial myopathy : tissue specific expression of a defect in ubiquinal cytochrome c reductase. Clin Chim Acta 1986;158 253-61.
    • (1986) Clin Chim Acta , vol.158 , pp. 253-261
    • Darley-Usmar, V.M.1    Watanabe, M.2    Uchiyama, Y.3
  • 12
    • 0023319097 scopus 로고
    • Variation in the levels of Complex I subunits among tissues in a patient with mitochondrial encephalomyopathy and renal dysfunction
    • Tanaka M, Nishikimi M, Wasserkrug HL, et al: Variation in the levels of Complex I subunits among tissues in a patient with mitochondrial encephalomyopathy and renal dysfunction. Biochem Int 1987;14:735-9.
    • (1987) Biochem Int , vol.14 , pp. 735-739
    • Tanaka, M.1    Nishikimi, M.2    Wasserkrug, H.L.3
  • 13
    • 0027955658 scopus 로고
    • Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure
    • Edery P, Geraed B, Chretien D, et al: Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure. Eur J Pediatr 1994;153:190-4.
    • (1994) Eur J Pediatr , vol.153 , pp. 190-194
    • Edery, P.1    Geraed, B.2    Chretien, D.3
  • 14
    • 0023429777 scopus 로고
    • Cytochrome c oxidase deficiency m Leigh syndrome
    • DiMauro S, Servidei S, Zeviani M, et al: Cytochrome c oxidase deficiency m Leigh syndrome. Ann Neurol 1987;22:498-506.
    • (1987) Ann Neurol , vol.22 , pp. 498-506
    • DiMauro, S.1    Servidei, S.2    Zeviani, M.3
  • 15
    • 0021869356 scopus 로고
    • Isolation and properties of cytochrome c oxidase from rat liver and quantification of immunological differences between isozymes from various rat tissues with subunit-specific antisera
    • Kuhn-Nentwig L, Kadenbach B: Isolation and properties of cytochrome c oxidase from rat liver and quantification of immunological differences between isozymes from various rat tissues with subunit-specific antisera. Eur J Biochem 1985;149:147-58.
    • (1985) Eur J Biochem , vol.149 , pp. 147-158
    • Kuhn-Nentwig, L.1    Kadenbach, B.2
  • 16
    • 0029014248 scopus 로고
    • Ile 4269 mutation): Histochernical, immunohistochemical and ultrastructural study
    • Ile 4269 mutation): histochernical, immunohistochemical and ultrastructural study. J Neurol Sci 1995;131:170-6.
    • (1995) J Neurol Sci , vol.131 , pp. 170-176
    • Kaido, M.1    Fujimura, H.2    Taniike, M.3
  • 17
    • 0023692817 scopus 로고
    • Familial mitochondrial myopathy associated with peripheral neuropathy: Partial deficiencies of complex I and complex IV
    • Mizusawa H, Watanabe M, Kanazawa I, et al: Familial mitochondrial myopathy associated with peripheral neuropathy: partial deficiencies of complex I and complex IV. J Neurol Sci 1988;86:171-84.
    • (1988) J Neurol Sci , vol.86 , pp. 171-184
    • Mizusawa, H.1    Watanabe, M.2    Kanazawa, I.3
  • 18
    • 0023074512 scopus 로고
    • Peripheral neuropathy m mitochondrial disease
    • Pezeshkpour C, Krarup C, Buchthal KF, et al: Peripheral neuropathy m mitochondrial disease. J Neurol Sci 1987;77: 285-304.
    • (1987) J Neurol Sci , vol.77 , pp. 285-304
    • Pezeshkpour, C.1    Krarup, C.2    Buchthal, K.F.3
  • 19
    • 0017191458 scopus 로고
    • A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency
    • Reynolds SF, Blass JP: A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency. Neurology 1976;26:625-8.
    • (1976) Neurology , vol.26 , pp. 625-628
    • Reynolds, S.F.1    Blass, J.P.2
  • 20
    • 0028918471 scopus 로고
    • Cardiac involvement in mitochondrial diseases: A study on 17 patients with documented mitochondrial DNA defects
    • Anan R, Nakagawa M, Miyata M, et al: Cardiac involvement in mitochondrial diseases: a study on 17 patients with documented mitochondrial DNA defects. Circulation 1995;91: 955-61
    • (1995) Circulation , vol.91 , pp. 955-961
    • Anan, R.1    Nakagawa, M.2    Miyata, M.3
  • 21
    • 0022975558 scopus 로고
    • Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency
    • Zaviani M, VanDvke DH, Servidei S, et al: Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency. Arch Neurol 1986,43:1198-202.
    • (1986) Arch Neurol , vol.43 , pp. 1198-1202
    • Zaviani, M.1    Vandvke, D.H.2    Servidei, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.