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Volumn 5, Issue 9, 2010, Pages 1-8

Impact of the mitochondrial genetic background in complex III deficiency

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOCHROME B; GUANINE; MITOCHONDRIAL DNA; UBIQUINOL CYTOCHROME C REDUCTASE; CYTOCHROME C OXIDASE;

EID: 84879793260     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0012801     Document Type: Article
Times cited : (36)

References (31)
  • 1
    • 0345315746 scopus 로고
    • On the mechanism of electron transfer in complex III of the electron transfer chain
    • Baum H, Rieske JS, Silman HI, Lipton SH (1967) On the mechanism of electron transfer in complex III of the electron transfer chain. Proc Natl Acad Sci U S A 57: 798-805.
    • (1967) Proc Natl Acad Sci U S A , vol.57 , pp. 798-805
    • Baum, H.1    Rieske, J.S.2    Silman, H.I.3    Lipton, S.H.4
  • 2
    • 0030867866 scopus 로고    scopus 로고
    • Crystal structure of the cytochrome bc1 complex from bovine heart mitochondria
    • Xia D, Yu CA, Kim H, Xia JZ, Kachurin AM, et al. (1997) Crystal structure of the cytochrome bc1 complex from bovine heart mitochondria. Science 277: 60-66.
    • (1997) Science , vol.277 , pp. 60-66
    • Xia, D.1    Yu, C.A.2    Kim, H.3    Xia, J.Z.4    Kachurin, A.M.5
  • 3
    • 0032479524 scopus 로고    scopus 로고
    • Complete structure of the 11-subunit bovine mitochondrial cytochrome bc1 complex
    • Iwata S, Lee JW, Okada K, Lee JK, Iwata M, et al. (1998) Complete structure of the 11-subunit bovine mitochondrial cytochrome bc1 complex. Science 281: 64-71.
    • (1998) Science , vol.281 , pp. 64-71
    • Iwata, S.1    Lee, J.W.2    Okada, K.3    Lee, J.K.4    Iwata, M.5
  • 4
    • 56649095917 scopus 로고    scopus 로고
    • Respiratory-chain diseases related to complex III deficiency
    • Benit P, Lebon S, Rustin P (2009) Respiratory-chain diseases related to complex III deficiency. Biochim Biophys Acta 1793: 181-185.
    • (2009) Biochim Biophys Acta , vol.1793 , pp. 181-185
    • Benit, P.1    Lebon, S.2    Rustin, P.3
  • 5
    • 0033659683 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene
    • Keightley JA, Anitori R, Burton MD, Quan F, Buist NR, et al. (2000) Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. Am J Hum Genet 67: 1400-1410.
    • (2000) Am J Hum Genet , vol.67 , pp. 1400-1410
    • Keightley, J.A.1    Anitori, R.2    Burton, M.D.3    Quan, F.4    Buist, N.R.5
  • 6
    • 0033888963 scopus 로고    scopus 로고
    • A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy
    • Andreu AL, Checcarelli N, Iwata S, Shanske S, DiMauro S (2000) A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy. Pediatr Res 48: 311-314.
    • (2000) Pediatr Res , vol.48 , pp. 311-314
    • Andreu, A.L.1    Checcarelli, N.2    Iwata, S.3    Shanske, S.4    Dimauro, S.5
  • 7
    • 0032807973 scopus 로고    scopus 로고
    • A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency
    • Valnot I, Kassis J, Chretien D, de Lonlay P, Parfait B, et al. (1999) A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency. Hum Genet 104: 460-466.
    • (1999) Hum Genet , vol.104 , pp. 460-466
    • Valnot, I.1    Kassis, J.2    Chretien, D.3    de Lonlay, P.4    Parfait, B.5
  • 8
    • 0033619147 scopus 로고    scopus 로고
    • Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
    • Andreu AL, Hanna MG, Reichmann H, Bruno C, Penn AS, et al. (1999) Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med 341: 1037-1044.
    • (1999) N Engl J Med , vol.341 , pp. 1037-1044
    • Andreu, A.L.1    Hanna, M.G.2    Reichmann, H.3    Bruno, C.4    Penn, A.S.5
  • 9
    • 0036194222 scopus 로고    scopus 로고
    • Septooptic dysplasia associated with a new mitochondrial cytochrome b mutation
    • Schuelke M, Krude H, Finckh B, Mayatepek E, Janssen A, et al. (2002) Septooptic dysplasia associated with a new mitochondrial cytochrome b mutation. Ann Neurol 51: 388-392.
    • (2002) Ann Neurol , vol.51 , pp. 388-392
    • Schuelke, M.1    Krude, H.2    Finckh, B.3    Mayatepek, E.4    Janssen, A.5
  • 10
    • 0034797268 scopus 로고    scopus 로고
    • Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene
    • Wibrand F, Ravn K, Schwartz M, Rosenberg T, Horn N, et al. (2001) Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene. Ann Neurol 50: 540-543.
    • (2001) Ann Neurol , vol.50 , pp. 540-543
    • Wibrand, F.1    Ravn, K.2    Schwartz, M.3    Rosenberg, T.4    Horn, N.5
  • 11
    • 0026531040 scopus 로고
    • Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy
    • Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, et al. (1992) Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics 130: 163-173.
    • (1992) Genetics , vol.130 , pp. 163-173
    • Brown, M.D.1    Voljavec, A.S.2    Lott, M.T.3    Torroni, A.4    Yang, C.C.5
  • 13
    • 34547796899 scopus 로고    scopus 로고
    • Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
    • Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, et al. (2007) Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet 81: 228-233.
    • (2007) Am J Hum Genet , vol.81 , pp. 228-233
    • Hudson, G.1    Carelli, V.2    Spruijt, L.3    Gerards, M.4    Mowbray, C.5
  • 14
    • 0024448458 scopus 로고
    • Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
    • King MP, Attardi G (1989) Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 246: 500-503.
    • (1989) Science , vol.246 , pp. 500-503
    • King, M.P.1    Attardi, G.2
  • 15
    • 0034845691 scopus 로고    scopus 로고
    • Thyroid hormone regulates oxidative phosphorylation in the cerebral cortex and striatum of neonatal rats
    • Martinez B, del Hoyo P, Martin MA, Arenas J, Perez-Castillo A, et al. (2001) Thyroid hormone regulates oxidative phosphorylation in the cerebral cortex and striatum of neonatal rats. J Neurochem 78: 1054-1063.
    • (2001) J Neurochem , vol.78 , pp. 1054-1063
    • Martinez, B.1    del Hoyo, P.2    Martin, M.A.3    Arenas, J.4    Perez-Castillo, A.5
  • 16
    • 0032868141 scopus 로고    scopus 로고
    • Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
    • Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, et al. (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23: 147.
    • (1999) Nat Genet , vol.23 , Issue.147
    • Andrews, R.M.1    Kubacka, I.2    Chinnery, P.F.3    Lightowlers, R.N.4    Turnbull, D.M.5
  • 17
    • 75849153303 scopus 로고    scopus 로고
    • The Universal Protein Resource (UniProt) in 2010
    • The Uniprot Consortium
    • The Uniprot Consortium (2010) The Universal Protein Resource (UniProt) in 2010. Nucleic Acids Res 38: D142-148.
    • (2010) Nucleic Acids Res , vol.38
  • 18
    • 13244255415 scopus 로고    scopus 로고
    • MUSCLE: A multiple sequence alignment method with reduced time and space complexity
    • Edgar RC (2004) MUSCLE: a multiple sequence alignment method with reduced time and space complexity. BMC Bioinformatics 5: 113.
    • (2004) BMC Bioinformatics , vol.5 , Issue.113
    • Edgar, R.C.1
  • 19
    • 0042622380 scopus 로고    scopus 로고
    • SWISS-MODEL: An automated protein homology-modeling server
    • Schwede T, Kopp J, Guex N, Peitsch MC (2003) SWISS-MODEL: An automated protein homology-modeling server. Nucleic Acids Res 31: 3381-3385.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3381-3385
    • Schwede, T.1    Kopp, J.2    Guex, N.3    Peitsch, M.C.4
  • 21
    • 57049107271 scopus 로고    scopus 로고
    • Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease
    • Pello R, Martin MA, Carelli V, Nijtmans LG, Achilli A, et al. (2008) Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease. Hum Mol Genet 17: 4001-4011.
    • (2008) Hum Mol Genet , vol.17 , pp. 4001-4011
    • Pello, R.1    Martin, M.A.2    Carelli, V.3    Nijtmans, L.G.4    Achilli, A.5
  • 22
    • 0036299132 scopus 로고    scopus 로고
    • Mitochondrial ATPase subunit 6 and cytochrome b gene polymorphisms in young obese adults
    • Fuku N, Oshida Y, Takeyasu T, Guo LJ, Kurata M, et al. (2002) Mitochondrial ATPase subunit 6 and cytochrome b gene polymorphisms in young obese adults. Biochem Biophys Res Commun 290: 1199-1205.
    • (2002) Biochem Biophys Res Commun , vol.290 , pp. 1199-1205
    • Fuku, N.1    Oshida, Y.2    Takeyasu, T.3    Guo, L.J.4    Kurata, M.5
  • 23
    • 19544369483 scopus 로고    scopus 로고
    • Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: A framework to interpret complex I deficiencies
    • Ugalde C, Vogel R, Huijbens R, Van Den Heuvel B, Smeitink J, et al. (2004) Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies. Hum Mol Genet 13: 2461-2472.
    • (2004) Hum Mol Genet , vol.13 , pp. 2461-2472
    • Ugalde, C.1    Vogel, R.2    Huijbens, R.3    van den Heuvel, B.4    Smeitink, J.5
  • 24
    • 77949472152 scopus 로고    scopus 로고
    • Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells
    • D'Aurelio M, Vives-Bauza C, Davidson MM, Manfredi G (2010) Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells. Hum Mol Genet 19: 374-386.
    • (2010) Hum Mol Genet , vol.19 , pp. 374-386
    • D'Aurelio, M.1    Vives-Bauza, C.2    Davidson, M.M.3    Manfredi, G.4
  • 25
    • 0035065485 scopus 로고    scopus 로고
    • SNPs, protein structure, and disease
    • Wang Z, Moult J (2001) SNPs, protein structure, and disease. Hum Mutat 17: 263-270.
    • (2001) Hum Mutat , vol.17 , pp. 263-270
    • Wang, Z.1    Moult, J.2
  • 26
    • 67149136517 scopus 로고    scopus 로고
    • Ancient mtDNA genetic variants modulate mtDNA transcription and replication
    • Suissa S, Wang Z, Poole J, Wittkopp S, Feder J, et al. (2009) Ancient mtDNA genetic variants modulate mtDNA transcription and replication. PLoS Genet 5: e1000474.
    • (2009) PLoS Genet , vol.5
    • Suissa, S.1    Wang, Z.2    Poole, J.3    Wittkopp, S.4    Feder, J.5
  • 27
    • 77955364142 scopus 로고    scopus 로고
    • Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups
    • Gomez-Duran A, Pacheu-Grau D, Lopez-Gallardo E, Diez-Sanchez C, Montoya J, et al. (2010) Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups. Hum Mol Genet 19: 3343-3353.
    • (2010) Hum Mol Genet , vol.19 , pp. 3343-3353
    • Gomez-Duran, A.1    Pacheu-Grau, D.2    Lopez-Gallardo, E.3    Diez-Sanchez, C.4    Montoya, J.5
  • 29
    • 0036478952 scopus 로고    scopus 로고
    • Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation
    • McFarland R, Clark KM, Morris AA, Taylor RW, Macphail S, et al. (2002) Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nat Genet 30: 145-146.
    • (2002) Nat Genet , vol.30 , pp. 145-146
    • McFarland, R.1    Clark, K.M.2    Morris, A.A.3    Taylor, R.W.4    MacPhail, S.5
  • 31
    • 54949142139 scopus 로고    scopus 로고
    • Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: Basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome
    • Sproule DM, Kaufmann P (2008) Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann N Y Acad Sci 1142: 133-158.
    • (2008) Ann N Y Acad Sci , vol.1142 , pp. 133-158
    • Sproule, D.M.1    Kaufmann, P.2


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