메뉴 건너뛰기




Volumn 21, Issue 1, 1998, Pages 9-16

Pyruvate dehydrogenase complex deficiency and absence of subunit X

Author keywords

[No Author keywords available]

Indexed keywords

MULTIENZYME COMPLEX; PROTEIN SUBUNIT; PYRUVATE DEHYDROGENASE COMPLEX;

EID: 6844260528     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005351012066     Document Type: Article
Times cited : (17)

References (18)
  • 1
    • 0025690824 scopus 로고
    • Isolation, characterization and chromosomal localization of cDNA clones for the E1β subunit of the pyruvate dehydrogenase complex
    • Chun K, MacKay N, Willard HF, Robinson BH (1990) Isolation, characterization and chromosomal localization of cDNA clones for the E1β subunit of the pyruvate dehydrogenase complex. Eur J Biochem 194: 587-592.
    • (1990) Eur J Biochem , vol.194 , pp. 587-592
    • Chun, K.1    MacKay, N.2    Willard, H.F.3    Robinson, B.H.4
  • 2
    • 0028986810 scopus 로고
    • Pyruvate dehydrogenase E1 alpha deficiency: Males and females differ yet again
    • Dahl H-HM (1995) Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again. Am J Hum Genet 56: 553-557.
    • (1995) Am J Hum Genet , vol.56 , pp. 553-557
    • Dahl, H.-H.M.1
  • 3
    • 0027013015 scopus 로고
    • Mutations and polymorphisms in the pyruvate dehydrogenase E1α gene
    • Dahl H-HM, Brown GK, Brown RM, et al (1992) Mutations and polymorphisms in the pyruvate dehydrogenase E1α gene. Hum Mutat 1: 97-102.
    • (1992) Hum Mutat , vol.1 , pp. 97-102
    • Dahl, H.-H.M.1    Brown, G.K.2    Brown, R.M.3
  • 4
    • 0022428441 scopus 로고
    • Component X. An immunologically distinct polypeptide associated with mammalian pyruvate dehydrogenase multi-enzyme complex
    • De Marcucci O, Lindsay JG (1985) Component X. An immunologically distinct polypeptide associated with mammalian pyruvate dehydrogenase multi-enzyme complex. Eur J Biochem 149: 641-648.
    • (1985) Eur J Biochem , vol.149 , pp. 641-648
    • De Marcucci, O.1    Lindsay, J.G.2
  • 5
    • 0030048761 scopus 로고    scopus 로고
    • Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemia
    • Geoffroy V, Fouque F, Benelli C, et al (1996) Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemia. Pediatrics 97: 267-272.
    • (1996) Pediatrics , vol.97 , pp. 267-272
    • Geoffroy, V.1    Fouque, F.2    Benelli, C.3
  • 6
    • 0022969384 scopus 로고
    • Properties of a newly characterized protein of the bovine kidney pyruvate dehydrogenase complex
    • Jilka JM, Rahmatullah M, Kazemi M, Roche TE (1986) Properties of a newly characterized protein of the bovine kidney pyruvate dehydrogenase complex. J Biol Chem 261: 1858-1867.
    • (1986) J Biol Chem , vol.261 , pp. 1858-1867
    • Jilka, J.M.1    Rahmatullah, M.2    Kazemi, M.3    Roche, T.E.4
  • 7
    • 0014949207 scopus 로고
    • Cleavage of structural proteins during the assembly of the head of bacteriophage T4
    • Laemmli UK (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227: 680-685.
    • (1970) Nature , vol.227 , pp. 680-685
    • Laemmli, U.K.1
  • 8
    • 19144362840 scopus 로고    scopus 로고
    • Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency
    • Lissens W, De Meirleir L, Seneca S, et al (1996) Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat 7: 46-51.
    • (1996) Hum Mutat , vol.7 , pp. 46-51
    • Lissens, W.1    De Meirleir, L.2    Seneca, S.3
  • 9
    • 0025770973 scopus 로고
    • Selective proteolysis of the protein X subunit of the bovine heart pyruvate dehydrogenase complex
    • Neagle JC, Lindsay JG (1991) Selective proteolysis of the protein X subunit of the bovine heart pyruvate dehydrogenase complex. Biochem J 278: 423-427.
    • (1991) Biochem J , vol.278 , pp. 423-427
    • Neagle, J.C.1    Lindsay, J.G.2
  • 10
    • 0024095046 scopus 로고
    • Cloning and nucleotide sequence of the gene for dihydrolipoamide acetyl-transferase from Saccharomyces cerevisiae
    • Niu XD, Browning KS, Behal RH, Reed LJ (1988) Cloning and nucleotide sequence of the gene for dihydrolipoamide acetyl-transferase from Saccharomyces cerevisiae. Proc Natl Acad Sci USA 85: 7546-7550.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 7546-7550
    • Niu, X.D.1    Browning, K.S.2    Behal, R.H.3    Reed, L.J.4
  • 11
    • 0027445938 scopus 로고
    • Defect in the lipoyl-bearing protein X subunit of the pyruvate dehydrogenase complex in two patients with encephalomyelopathy
    • Marsac C, Stansbie D, Bonne G, et al (1993) Defect in the lipoyl-bearing protein X subunit of the pyruvate dehydrogenase complex in two patients with encephalomyelopathy. J Pediatr 123: 915-920.
    • (1993) J Pediatr , vol.123 , pp. 915-920
    • Marsac, C.1    Stansbie, D.2    Bonne, G.3
  • 12
    • 0017588990 scopus 로고
    • A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b
    • Morgan-Hughes JA, Darveniza P, Kahn SN, et al (1977) A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b. Brain 100: 617-640.
    • (1977) Brain , vol.100 , pp. 617-640
    • Morgan-Hughes, J.A.1    Darveniza, P.2    Kahn, S.N.3
  • 13
    • 0024543468 scopus 로고
    • Domain structures of the dihydrolipoyl transacetylase and the protein X components of mammalian pyruvate dehydrogenase complex. Selective cleavage by protease Arg C
    • Rahmatullah M, Gopalakrishnan S, Radke GA, Roche TE (1989) Domain structures of the dihydrolipoyl transacetylase and the protein X components of mammalian pyruvate dehydrogenase complex. Selective cleavage by protease Arg C. J Biol Chem 264: 1245-1251.
    • (1989) J Biol Chem , vol.264 , pp. 1245-1251
    • Rahmatullah, M.1    Gopalakrishnan, S.2    Radke, G.A.3    Roche, T.E.4
  • 15
    • 0025193678 scopus 로고
    • Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia
    • Robinson BH, Mackay N, Petrova-Benedict R, Ozalp I, Coskun T, Stacpoole PW (1990) Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia. J Clin Invest 85: 1821-1824.
    • (1990) J Clin Invest , vol.85 , pp. 1821-1824
    • Robinson, B.H.1    Mackay, N.2    Petrova-Benedict, R.3    Ozalp, I.4    Coskun, T.5    Stacpoole, P.W.6
  • 16
    • 0029916903 scopus 로고    scopus 로고
    • Stoichiometry, organisation and catalytic function of protein X of the pyruvate dehydrogenase complex from bovine heart
    • Sanderson SJ, Miller C, Lindsay JG (1996) Stoichiometry, organisation and catalytic function of protein X of the pyruvate dehydrogenase complex from bovine heart. Eur J Biochem 236: 68-77.
    • (1996) Eur J Biochem , vol.236 , pp. 68-77
    • Sanderson, S.J.1    Miller, C.2    Lindsay, J.G.3
  • 17
    • 0019420189 scopus 로고
    • Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts
    • Sheu KFR, Hu CW, Utter MF (1981) Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts. J Clin Invest 67: 1463-1471.
    • (1981) J Clin Invest , vol.67 , pp. 1463-1471
    • Sheu, K.F.R.1    Hu, C.W.2    Utter, M.F.3
  • 18
    • 0020973229 scopus 로고
    • Isolation of mammalian mitochondrial DNA and RNA and cloning of the mitochondrial genome
    • Tapper DP, Van Etten RA, Clayton DA (1983) Isolation of mammalian mitochondrial DNA and RNA and cloning of the mitochondrial genome. Methods Enzymol 97: 426-434.
    • (1983) Methods Enzymol , vol.97 , pp. 426-434
    • Tapper, D.P.1    Van Etten, R.A.2    Clayton, D.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.