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Volumn 63, Issue 9, 2011, Pages 669-677

The molecular basis of human complex i deficiency

Author keywords

human molecular disease; mitochondria; mitochondrial disorders; molecular genetics

Indexed keywords

CELL NUCLEUS DNA; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

EID: 80052092729     PISSN: 15216543     EISSN: 15216551     Source Type: Journal    
DOI: 10.1002/iub.495     Document Type: Review
Times cited : (40)

References (50)
  • 1
    • 0042266280 scopus 로고    scopus 로고
    • Minimum birth prevalence of mitochondrial respiratory chain disorders in children
    • DOI 10.1093/brain/awg170
    • Skladal, D., Halliday, J., and, Thorburn, D. R., (2003) Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 126, 1905-1912. (Pubitemid 36917349)
    • (2003) Brain , vol.126 , Issue.8 , pp. 1905-1912
    • Skladal, D.1    Halliday, J.2    Thorburn, D.R.3
  • 2
    • 0034951326 scopus 로고    scopus 로고
    • Clinical spectrum and diagnosis of mitochondrial disorders
    • Munnich, A., and, Rustin, P., (2001) Clinical spectrum and diagnosis of mitochondrial disorders. Am. J. Med. Genet. 106, 4-17.
    • (2001) Am. J. Med. Genet. , vol.106 , pp. 4-17
    • Munnich, A.1    Rustin, P.2
  • 3
    • 77952979824 scopus 로고    scopus 로고
    • The architecture of respiratory complex i
    • Efremov R. G., Baradaran R., and, Sazanov L. A., (2010) The architecture of respiratory complex I. Nature 465, 441-445.
    • (2010) Nature , vol.465 , pp. 441-445
    • Efremov, R.G.1    Baradaran, R.2    Sazanov, L.A.3
  • 4
    • 77954848120 scopus 로고    scopus 로고
    • Functional modules and structural basis of conformational coupling in mitochondrial complex i
    • Hunte, C., Zickermann, V., and, Brandt, U., (2010) Functional modules and structural basis of conformational coupling in mitochondrial complex I. Science 329, 448-451.
    • (2010) Science , vol.329 , pp. 448-451
    • Hunte, C.1    Zickermann, V.2    Brandt, U.3
  • 6
    • 26444488636 scopus 로고    scopus 로고
    • A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy
    • DOI 10.1172/JCI26020
    • Ogilvie, I., Kennaway, N. G., and, Shoubridge, E. A., (2005) A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. J. Clin. Invest. 115, 2784-2792. (Pubitemid 41434405)
    • (2005) Journal of Clinical Investigation , vol.115 , Issue.10 , pp. 2784-2792
    • Ogilvie, I.1    Kennaway, N.G.2    Shoubridge, E.A.3
  • 7
    • 66749128531 scopus 로고    scopus 로고
    • Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex i assembly protein, cause fatal neonatal mitochondrial disease
    • Saada, A., Vogel, R. O., Hoefs, S. J., van den Brand, M. A., Wessels, H. J., et al. (2009) Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. Am. J. Hum. Genet. 84, 718-727.
    • (2009) Am. J. Hum. Genet. , vol.84 , pp. 718-727
    • Saada, A.1    Vogel, R.O.2    Hoefs, S.J.3    Van Den Brand, M.A.4    Wessels, H.J.5
  • 9
    • 53049098744 scopus 로고    scopus 로고
    • Mutation of C20orf7 disrupts complex i assembly and causes lethal neonatal mitochondrial disease
    • Sugiana, C., Pagliarini, D., McKenzie, M., Kirby, D., Salemi, R., et al. (2008) Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. Am. J. Hum. Genet. 83, 468-478.
    • (2008) Am. J. Hum. Genet. , vol.83 , pp. 468-478
    • Sugiana, C.1    Pagliarini, D.2    McKenzie, M.3    Kirby, D.4    Salemi, R.5
  • 11
    • 77957606541 scopus 로고    scopus 로고
    • High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex i deficiency
    • Calvo, S. E., Tucker, E. J., Compton, A. G., Kirby, D. M., Crawford, G., et al. (2010) High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat. Genet. 42, 851-858.
    • (2010) Nat. Genet. , vol.42 , pp. 851-858
    • Calvo, S.E.1    Tucker, E.J.2    Compton, A.G.3    Kirby, D.M.4    Crawford, G.5
  • 12
    • 77956318447 scopus 로고    scopus 로고
    • Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex i
    • Nouws, J., Nijtmans, L., Houten, S. M., van den Brand, M., Huynen, M., et al. (2010) Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. Cell Metabol. 12, 283-294.
    • (2010) Cell Metabol. , vol.12 , pp. 283-294
    • Nouws, J.1    Nijtmans, L.2    Houten, S.M.3    Van Den Brand, M.4    Huynen, M.5
  • 14
    • 9144267069 scopus 로고    scopus 로고
    • Structural organization of mitochondrial human complex I: Role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin
    • DOI 10.1042/BJ20040256
    • Bourges, I., Ramus, C., Mousson de Camaret, B., Beugnot, R., Remacle, C., et al. (2004) Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin. Biochem. J. 383, 491-499. (Pubitemid 39546119)
    • (2004) Biochemical Journal , vol.383 , Issue.3 , pp. 491-499
    • Bourges, I.1    Ramus, C.2    Mousson De Camaret, B.3    Beugnot, R.4    Remacle, C.5    Cardol, P.6    Hofhaus, G.7    Issartel, J.-P.8
  • 16
    • 0032561134 scopus 로고    scopus 로고
    • Involvement of two novel chaperones in the assembly of mitochondrial NADH:ubiquinone oxidoreductase (complex I)
    • DOI 10.1006/jmbi.1998.2114
    • Kuffner, R., Rohr, A., Schmiede, A., Krull, C., and, Schulte, U., (1998) Involvement of two novel chaperones in the assembly of mitochondrial NADH:Ubiquinone oxidoreductase (complex I). J. Mol. Biol. 283, 409-417. (Pubitemid 28470418)
    • (1998) Journal of Molecular Biology , vol.283 , Issue.2 , pp. 409-417
    • Kuffner, R.1    Rohr, A.2    Schmiede, A.3    Krull, C.4    Schulte, U.5
  • 17
    • 71949116823 scopus 로고    scopus 로고
    • Human Ind1, an iron-sulfur cluster assembly factor for respiratory complex i
    • Sheftel, A. D., Stehling, O., Pierik, A. J., Netz, D. J. A., Kerscher, S., et al. (2009) Human Ind1, an iron-sulfur cluster assembly factor for respiratory complex I. Mol. Cell. Biol. 29, 6059-6073.
    • (2009) Mol. Cell. Biol. , vol.29 , pp. 6059-6073
    • Sheftel, A.D.1    Stehling, O.2    Pierik, A.J.3    Netz, D.J.A.4    Kerscher, S.5
  • 18
    • 77955872123 scopus 로고    scopus 로고
    • Assembly factors of human mitochondrial complex i and their defects in disease
    • McKenzie, M., and, Ryan, M. T., (2010) Assembly factors of human mitochondrial complex I and their defects in disease. IUBMB Life 62, 497-502.
    • (2010) IUBMB Life , vol.62 , pp. 497-502
    • McKenzie, M.1    Ryan, M.T.2
  • 19
    • 0032893995 scopus 로고    scopus 로고
    • Respiratory chain complex I deficiency: An underdiagnosed energy generation disorder
    • Kirby, D. M., Crawford, M., Cleary, M. A., Dahl, H. H., Dennett, X., et al. (1999) Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. Neurology 52, 1255-1264. (Pubitemid 29177931)
    • (1999) Neurology , vol.52 , Issue.6 , pp. 1255-1264
    • Kirby, D.M.1    Crawford, M.2    Cleary, M.A.3    Dahl, H.-H.M.4    Dennett, X.5    Thorburn, D.6
  • 20
    • 0037069229 scopus 로고    scopus 로고
    • Diagnostic criteria for respiratory chain disorders in adults and children
    • Bernier, F. P., Boneh, A., Dennett, X., Chow, C. W., Cleary, M. A., et al. (2002) Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59, 1406-1411. (Pubitemid 35285995)
    • (2002) Neurology , vol.59 , Issue.9 , pp. 1406-1411
    • Bernier, F.P.1    Boneh, A.2    Dennett, X.3    Chow, C.W.4    Cleary, M.A.5    Thorburn, D.R.6
  • 21
    • 9644265636 scopus 로고    scopus 로고
    • Respiratory chain enzyme analysis in muscle and liver
    • DOI 10.1016/j.mito.2004.07.003, PII S1567724904001308
    • Thorburn, D. R., Chow, C. W., and, Kirby, D. M., (2004) Respiratory chain enzyme analysis in muscle and liver. Mitochondrion 4, 363-375. (Pubitemid 39646790)
    • (2004) Mitochondrion , vol.4 , Issue.SPEC. ISS. , pp. 363-375
    • Thorburn, D.R.1    Chow, C.W.2    Kirby, D.M.3
  • 22
    • 65249126910 scopus 로고    scopus 로고
    • Mitochondrial complex i deficiency: From organelle dysfunction to clinical disease
    • Distelmaier, F., Koopman, W. J. H., van den Heuvel, L. P., Rodenburg, R. J., Mayatepek, E., et al. (2008) Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain 132, 833-842.
    • (2008) Brain , vol.132 , pp. 833-842
    • Distelmaier, F.1    Koopman, W.J.H.2    Van Den Heuvel, L.P.3    Rodenburg, R.J.4    Mayatepek, E.5
  • 23
    • 77956111717 scopus 로고    scopus 로고
    • Defective complex i assembly due to C20orf7 mutations as a new cause of Leigh syndrome
    • Gerards, M., Sluiter, W., van den Bosch, B. J. C., de Wit, L. E. A., Calis, C. M. H., et al. (2009) Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. J. Med. Genet. 47, 507-512.
    • (2009) J. Med. Genet. , vol.47 , pp. 507-512
    • Gerards, M.1    Sluiter, W.2    Van Den Bosch, B.J.C.3    De Wit, L.E.A.4    Calis, C.M.H.5
  • 24
    • 78650693584 scopus 로고    scopus 로고
    • Riboflavin-responsive oxidative phosphorylation complex i deficiency caused by defective ACAD9: New function for an old gene
    • Gerards, M., van den Bosch, B. J. C., Danhauser, K., Serre, V., van Weeghel, M., et al. (2010) Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. Brain 134, 210-219.
    • (2010) Brain , vol.134 , pp. 210-219
    • Gerards, M.1    Van Den Bosch, B.J.C.2    Danhauser, K.3    Serre, V.4    Van Weeghel, M.5
  • 25
    • 78649474742 scopus 로고    scopus 로고
    • Exome sequencing identifies ACAD9 mutations as a cause of complex i deficiency
    • Haack, T. B., Danhauser, K., Haberberger, B., Hoser, J., Strecker, V., et al. (2010) Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat. Genet. 42, 1131-1134.
    • (2010) Nat. Genet. , vol.42 , pp. 1131-1134
    • Haack, T.B.1    Danhauser, K.2    Haberberger, B.3    Hoser, J.4    Strecker, V.5
  • 27
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • DOI 10.1038/331717a0
    • Holt, I. J., Harding, A. E., and, Morgan-Hughes, J. A., (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331, 717-719. (Pubitemid 18062238)
    • (1988) Nature , vol.331 , Issue.6158 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 28
    • 0025666322 scopus 로고
    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Goto, Y., Nonaka, I., and, Horai, S., (1990) A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348, 651-653. (Pubitemid 120015131)
    • (1990) Nature , vol.348 , Issue.6302 , pp. 651-653
    • Goto, Y.-I.1    Nonaka, I.2    Horai, S.3
  • 30
    • 7444244924 scopus 로고    scopus 로고
    • Assigning pathogenicity to mitochondrial tRNA mutations: When 'definitely maybe' is not good enough
    • DOI 10.1016/j.tig.2004.09.014, PII S0168952504002860
    • McFarland, R., Elson, J. L., Taylor, R. W., Howell, N., and, Turnbull, D. M., (2004) Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough. Trends Genet. 20, 591-596. (Pubitemid 39441275)
    • (2004) Trends in Genetics , vol.20 , Issue.12 , pp. 591-596
    • McFarland, R.1    Elson, J.L.2    Taylor, R.W.3    Howell, N.4    Turnbull, D.M.5
  • 31
    • 32944470243 scopus 로고    scopus 로고
    • Sequence variation in mitochondrial complex I genes: Mutation or polymorphism?
    • DOI 10.1136/jmg.2005.032474
    • Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., and, Turnbull, D. M., (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? J. Med. Genet. 43, 175-179. (Pubitemid 43259634)
    • (2006) Journal of Medical Genetics , vol.43 , Issue.2 , pp. 175-179
    • Mitchell, A.L.1    Elson, J.L.2    Howell, N.3    Taylor, R.W.4    Turnbull, D.M.5
  • 32
    • 48349097445 scopus 로고    scopus 로고
    • Pathogenic mitochondrial DNA mutations are common in the general population
    • Elliott, H., Samuels, D., Eden, J., Relton, C., and, Chinnery, P., (2008) Pathogenic mitochondrial DNA mutations are common in the general population. Am. J. Hum. Genet. 83, 254-260.
    • (2008) Am. J. Hum. Genet. , vol.83 , pp. 254-260
    • Elliott, H.1    Samuels, D.2    Eden, J.3    Relton, C.4    Chinnery, P.5
  • 33
    • 2942562564 scopus 로고    scopus 로고
    • Mitochondrial disorders: Prevalence, myths and advances
    • DOI 10.1023/B:BOLI.0000031098.41409.55
    • Thorburn, D. R., (2004) Mitochondrial disorders: prevalence, myths and advances. J. Inherit. Metab. Dis. 27, 349-362. (Pubitemid 38756321)
    • (2004) Journal of Inherited Metabolic Disease , vol.27 , Issue.3 , pp. 349-362
    • Thorburn, D.R.1
  • 34
    • 79959218252 scopus 로고    scopus 로고
    • (2011) Respiratory chain complex i deficiency caused by mitochondrial DNA mutations
    • doi: 10.1038/ejhg.2011.18
    • Swalwell, H., Kirby, D. M., Blakely, E. L., Mitchell, A., Salemi, R., et al. (2011) Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. Eur. J. Hum. Genet., doi: 10.1038/ejhg.2011.18.
    • Eur. J. Hum. Genet.
    • Swalwell, H.1    Kirby, D.M.2    Blakely, E.L.3    Mitchell, A.4    Salemi, R.5
  • 39
    • 61849165636 scopus 로고    scopus 로고
    • Rapid screening for nuclear genes mutations in isolated respiratory chain complex i defects
    • Pagniez-Mammeri, H., Lombes, A., Brivet, M., Ogier-de Baulny, H., Landrieu, P., et al. (2009) Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects. Mol. Genet. Metab. 96, 196-200.
    • (2009) Mol. Genet. Metab. , vol.96 , pp. 196-200
    • Pagniez-Mammeri, H.1    Lombes, A.2    Brivet, M.3    Ogier-De Baulny, H.4    Landrieu, P.5
  • 42
    • 62149099561 scopus 로고    scopus 로고
    • A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease
    • Potluri, P., Davila, A., Ruiz-Pesini, E., Mishmar, D., O'Hearn, S., et al. (2009) A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. Mol. Genet. Metab. 96, 189-195.
    • (2009) Mol. Genet. Metab. , vol.96 , pp. 189-195
    • Potluri, P.1    Davila, A.2    Ruiz-Pesini, E.3    Mishmar, D.4    O'Hearn, S.5
  • 45
    • 77953861415 scopus 로고    scopus 로고
    • Leigh disease with brainstem involvement in complex i deficiency due to assembly factor NDUFAF2 defect
    • Herzer, M., Koch, J., Prokisch, H., Rodenburg, R., Rauscher, C., et al. (2010) Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. Neuropediatrics 41, 30-34.
    • (2010) Neuropediatrics , vol.41 , pp. 30-34
    • Herzer, M.1    Koch, J.2    Prokisch, H.3    Rodenburg, R.4    Rauscher, C.5
  • 47
    • 78649454768 scopus 로고    scopus 로고
    • FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy
    • Fassone, E., Duncan, A. J., Taanman, J. W., Pagnamenta, A. T., Sadowski, M. I., et al. (2010) FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. Hum. Mol. Genet. 19, 4837-4847.
    • (2010) Hum. Mol. Genet. , vol.19 , pp. 4837-4847
    • Fassone, E.1    Duncan, A.J.2    Taanman, J.W.3    Pagnamenta, A.T.4    Sadowski, M.I.5
  • 48
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies-the next generation
    • Metzker, M. L., (2010) Sequencing technologies-the next generation. Nat. Rev. Genet. 11, 31-46.
    • (2010) Nat. Rev. Genet. , vol.11 , pp. 31-46
    • Metzker, M.L.1
  • 49
    • 77957957247 scopus 로고    scopus 로고
    • The mitochondrial proteome and human disease
    • Calvo, S. E., and, Mootha, V. K., (2010) The mitochondrial proteome and human disease. Annu. Rev. Genom. Hum. Genet. 11, 25-44.
    • (2010) Annu. Rev. Genom. Hum. Genet. , vol.11 , pp. 25-44
    • Calvo, S.E.1    Mootha, V.K.2
  • 50
    • 17444385984 scopus 로고    scopus 로고
    • Tracing the evolution of a large protein complex in the eukaryotes, NADH:ubiquinone oxidoreductase (Complex I)
    • DOI 10.1016/j.jmb.2005.02.067
    • Gabaldon, T., Rainey, D., and, Huynen, M. A., (2005) Tracing the evolution of a large protein complex in the eukaryotes, NADH:ubiquinone oxidoreductase (Complex I). J. Mol. Biol. 348, 857-870. (Pubitemid 40544387)
    • (2005) Journal of Molecular Biology , vol.348 , Issue.4 , pp. 857-870
    • Gabaldon, T.1    Rainey, D.2    Huynen, M.A.3


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