메뉴 건너뛰기




Volumn 48, Issue 5, 1997, Pages 1238-1243

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency

Author keywords

[No Author keywords available]

Indexed keywords

UBIDECARENONE;

EID: 0030975555     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.48.5.1238     Document Type: Article
Times cited : (187)

References (21)
  • 2
  • 4
    • 0027234508 scopus 로고
    • Ubiquinol: An endogenous antioxidant in aerobic organisms
    • Ernster L, Forsmark-Andrée P. Ubiquinol: an endogenous antioxidant in aerobic organisms. Clin Investig 1993;71:S60-65.
    • (1993) Clin Investig , vol.71
    • Ernster, L.1    Forsmark-Andrée, P.2
  • 5
    • 0141610413 scopus 로고
    • Muscle coenzme Q deficiency in familial mitochondrial encephalomyopathy
    • Ogasahara S, Engel AG, Frens D, Mack D. Muscle coenzme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci USA 1989;86:2379-2382.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2379-2382
    • Ogasahara, S.1    Engel, A.G.2    Frens, D.3    Mack, D.4
  • 6
    • 0016654844 scopus 로고
    • The nasal fundus ectasia
    • Copenh
    • Riise D. The nasal fundus ectasia. Acta Ophthalmol (Copenh) 1975;126(suppl):5-108.
    • (1975) Acta Ophthalmol , vol.126 , Issue.SUPPL. , pp. 5-108
    • Riise, D.1
  • 7
    • 0025951154 scopus 로고
    • Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect
    • Haller RG, Henriksson KG, Jorfeldt L, et al. Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect. J Clin Invest 1991;88:1197-1206.
    • (1991) J Clin Invest , vol.88 , pp. 1197-1206
    • Haller, R.G.1    Henriksson, K.G.2    Jorfeldt, L.3
  • 8
    • 0024334848 scopus 로고
    • Exercise intolerance, latic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency
    • Haller RG, Lewis SF, Estabrook RW, et al. Exercise intolerance, latic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency. J Clin Invest 1989;84:155-161.
    • (1989) J Clin Invest , vol.84 , pp. 155-161
    • Haller, R.G.1    Lewis, S.F.2    Estabrook, R.W.3
  • 9
    • 0023865632 scopus 로고
    • Characterization of the near-infrared absorption spectra of cytochrome aa3 and haemoglobin for the non-invasive monitoring of cerebral oxygenation
    • Wray S, Cope M, Delpy DT, Wyatt JS, Reynolds EOR. Characterization of the near-infrared absorption spectra of cytochrome aa3 and haemoglobin for the non-invasive monitoring of cerebral oxygenation. Biochim Biophys Acta 1988;933:184-192.
    • (1988) Biochim Biophys Acta , vol.933 , pp. 184-192
    • Wray, S.1    Cope, M.2    Delpy, D.T.3    Wyatt, J.S.4    Reynolds, E.O.R.5
  • 10
    • 0023429777 scopus 로고
    • Cytochrome c oxidase deficiency in Leigh syndrome
    • DiMauro S, Servidei S, Zeviani M, et al. Cytochrome c oxidase deficiency in 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
  • 11
    • 33845261493 scopus 로고
    • A rapid method of total lipid extraction and purification
    • Bligh EG, Dyer WJ. A rapid method of total lipid extraction and purification. Can J Biochem Physiol 1959;37:912-917.
    • (1959) Can J Biochem Physiol , vol.37 , pp. 912-917
    • Bligh, E.G.1    Dyer, W.J.2
  • 12
    • 0027931039 scopus 로고
    • Biochemical and molecular investigations in respiratory chain deficiencies
    • Rustin P, Chretien D, Bourgeron T, et al. Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 1994;228:35-51.
    • (1994) Clin Chim Acta , vol.228 , pp. 35-51
    • Rustin, P.1    Chretien, D.2    Bourgeron, T.3
  • 13
    • 0014302977 scopus 로고
    • Kinetic studies of temperature changes and oxygen uptake concominant with substrate oxidation by mitochondria: The enthalpy of succinate oxidation during ATP formation by mitochondria
    • Poe M, Estabrook RW. Kinetic studies of temperature changes and oxygen uptake concominant with substrate oxidation by mitochondria: the enthalpy of succinate oxidation during ATP formation by mitochondria. Arch Biochem Biophys 1968;126: 320-330.
    • (1968) Arch Biochem Biophys , vol.126 , pp. 320-330
    • Poe, M.1    Estabrook, R.W.2
  • 14
    • 0027145130 scopus 로고
    • Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins
    • Hall RE, Henriksson KG, Lewis SF, Haller RG, Kennaway NG. Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins. J Clin Invest 1993;92:2660-2666.
    • (1993) J Clin Invest , vol.92 , pp. 2660-2666
    • Hall, R.E.1    Henriksson, K.G.2    Lewis, S.F.3    Haller, R.G.4    Kennaway, N.G.5
  • 15
    • 0030003760 scopus 로고
    • A microdeletion in cytochrome c oxidase (COX) subunit II associated with COX deficiency and recurrent myoglobinuria
    • Keightley J, Hoffbuhr KC, Burton MD, et al. A microdeletion in cytochrome c oxidase (COX) subunit II associated with COX deficiency and recurrent myoglobinuria. Nat Genet 1995;12: 410-416.
    • (1995) Nat Genet , vol.12 , pp. 410-416
    • Keightley, J.1    Hoffbuhr, K.C.2    Burton, M.D.3
  • 16
    • 0000576457 scopus 로고
    • Mitochondrial fatty acid oxidation disorders
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
    • Roe CR, Coates PM. Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and molecular bases of inherited diseases. New York: McGraw-Hill, 1995:1501-1533.
    • (1995) Metabolic and Molecular Bases of Inherited Diseases , pp. 1501-1533
    • Roe, C.R.1    Coates, P.M.2
  • 17
    • 0026612942 scopus 로고
    • 31P NMR spectroscopy and ergometer exercise test as evidence for muscle oxidative performance improvement with coenzyme Q in mitochondrial myopathies
    • Bendahan D, Desnuelle C, Vanuxem D, et al. 31P NMR spectroscopy and ergometer exercise test as evidence for muscle oxidative performance improvement with coenzyme Q in mitochondrial myopathies. Neurology 1992;42:1203-1208.
    • (1992) Neurology , vol.42 , pp. 1203-1208
    • Bendahan, D.1    Desnuelle, C.2    Vanuxem, D.3
  • 18
    • 0343486069 scopus 로고
    • Coenzyme Q and vitamin therapy in mitochondrial disease
    • Ford B, Matthews PM, Karpati G, et al. Coenzyme Q and vitamin therapy in mitochondrial disease [abstract]. Neurology 1992;42(suppl 3):418.
    • (1992) Neurology , vol.42 , Issue.3 SUPPL. , pp. 418
    • Ford, B.1    Matthews, P.M.2    Karpati, G.3
  • 19
    • 0020988620 scopus 로고
    • Biosynthesis of ubiquinone
    • Olson RE, Rudney H. Biosynthesis of ubiquinone. Vitam Horm 1983;40:1-43.
    • (1983) Vitam Horm , vol.40 , pp. 1-43
    • Olson, R.E.1    Rudney, H.2
  • 20
    • 0025806423 scopus 로고
    • Evidence that the decarboxylation reaction occurs before the first methylation in ubiquinone biosynthesis in rat liver mitochondria
    • Kang D, Takeshige K, Isobe R, Minakami S. Evidence that the decarboxylation reaction occurs before the first methylation in ubiquinone biosynthesis in rat liver mitochondria. Eur J Biochem 1991;196:599-605.
    • (1991) Eur J Biochem , vol.196 , pp. 599-605
    • Kang, D.1    Takeshige, K.2    Isobe, R.3    Minakami, S.4
  • 21
    • 0025364138 scopus 로고
    • Elucidation of the deficiency in two yeast coenzyme Q mutants. Characterization of the structural gene encoding hexaprenyl pyrophosphate synthetase
    • Ashby MN, Edwards PA. Elucidation of the deficiency in two yeast coenzyme Q mutants. Characterization of the structural gene encoding hexaprenyl pyrophosphate synthetase. J Biol Chem 1990;265:13157-13164.
    • (1990) J Biol Chem , vol.265 , pp. 13157-13164
    • Ashby, M.N.1    Edwards, P.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.