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Volumn 34, Issue 2, 2011, Pages 293-307

Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; APOPTOSIS INDUCING FACTOR; CALCIUM ION; CELL NUCLEUS DNA; IRON SULFUR PROTEIN; MITOCHONDRIAL DNA; REACTIVE OXYGEN METABOLITE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SIRTUIN; SUCCINATE DEHYDROGENASE (UBIQUINONE); TROLOX C;

EID: 79955684143     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-9005-x     Document Type: Review
Times cited : (23)

References (94)
  • 1
    • 84855606038 scopus 로고    scopus 로고
    • A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family
    • doi:10.1007/s10545-008-1049-9
    • Anderson SL, Chung WK, Frezzo J (2008) A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. J Inherit Metab Dis. doi:10.1007/s10545-008-1049-9
    • (2008) J Inherit Metab Dis
    • Anderson, S.L.1    Chung, W.K.2    Frezzo, J.3
  • 2
    • 13944278132 scopus 로고    scopus 로고
    • Mitochondria, oxidants, and aging
    • DOI 10.1016/j.cell.2005.02.001
    • Balaban RS, Nemoto S, Finkel T (2005) Mitochondria, oxidants, and aging. Cell 120:483-495 (Pubitemid 40269763)
    • (2005) Cell , vol.120 , Issue.4 , pp. 483-495
    • Balaban, R.S.1    Nemoto, S.2    Finkel, T.3
  • 3
    • 0037943964 scopus 로고    scopus 로고
    • Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt-1) in the NDUFS4 gene in Leigh syndrome
    • Benit P, Steffann J, Lebon S et al (2003) Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. Hum Genet 112:563-566 (Pubitemid 36869050)
    • (2003) Human Genetics , vol.112 , Issue.5-6 , pp. 563-566
    • Benit, P.1    Steffann, J.2    Lebon, S.3    Chretien, D.4    Kadhom, N.5    De Lonlay, P.6    Goldenberg, A.7    Dumez, Y.8    Dommergues, M.9    Rustin, P.10    Munnich, A.11    Rotig, A.12
  • 4
    • 52449131120 scopus 로고    scopus 로고
    • The variability of the harlequinmouse phenotype resembles that of humanmitochondrial-complex I-deficiency syndromes
    • Benit P, Goncalves S, Dassa EP et al (2008) The variability of the harlequinmouse phenotype resembles that of humanmitochondrial-complex I-deficiency syndromes. PLoS ONE 3:e3208
    • (2008) PLoS ONE , vol.3
    • Benit, P.1    Goncalves, S.2    Dassa, E.P.3
  • 6
    • 1542287938 scopus 로고    scopus 로고
    • Neuropathological Aspects of Mitochondrial DNA Disease
    • DOI 10.1023/B:NERE.0000014821.07269.8d
    • Betts J, Lightowlers RN, Turnbull DM(2004) Neuropathological aspects of mitochondrial DNA disease. Neurochem Res 29:505-511 (Pubitemid 38295001)
    • (2004) Neurochemical Research , vol.29 , Issue.3 , pp. 505-511
    • Betts, J.1    Lightowlers, R.N.2    Turnbull, D.M.3
  • 7
    • 33746329868 scopus 로고    scopus 로고
    • Energy converting NADH:quinone oxidoreductase (complex I)
    • Brandt U (2006) Energy converting NADH:quinone oxidoreductase (complex I). Annu Rev Biochem 75:69-92
    • (2006) Annu Rev Biochem , vol.75 , pp. 69-92
    • Brandt, U.1
  • 8
    • 0032773120 scopus 로고    scopus 로고
    • A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency
    • DOI 10.1038/11396
    • Brini M, Pinton P, King MP et al (1999) A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency. Nat Med 5:951-954 (Pubitemid 29372425)
    • (1999) Nature Medicine , vol.5 , Issue.8 , pp. 951-954
    • Brini, M.1    Pinton, P.2    King, M.P.3    Davidson, M.4    Schon, E.A.5    Rizzuto, R.6
  • 10
    • 0036838444 scopus 로고    scopus 로고
    • The human complex I NDUFS4 subunit: From gene structure to function and pathology
    • DOI 10.1016/S1567-7249(02)00035-1, PII S1567724902000351
    • Budde SM, van den Heuvel LP, Smeitink JA (2002) The human complex I NDUFS4 subunit: from gene structure to function and pathology. Mitochondrion 1-2:109-115 (Pubitemid 35214602)
    • (2002) Mitochondrion , vol.2 , Issue.1-2 , pp. 109-115
    • Budde, S.M.S.1    Van Den, H.L.P.W.J.2    Smeitink, J.A.M.3
  • 14
    • 0037184987 scopus 로고    scopus 로고
    • Definition of the nuclear encoded protein composition of bovine heart mitochondrial complex I. Identification of two new subunits
    • Carroll J, Shannon RJ, Fearnley IM et al (2002) Definition of the nuclear encoded protein composition of bovine heart mitochondrial complex I. Identification of two new subunits. J Biol Chem 277:50311-50317
    • (2002) J Biol Chem , vol.277 , pp. 50311-50317
    • Carroll, J.1    Shannon, R.J.2    Fearnley, I.M.3
  • 16
    • 54449089025 scopus 로고    scopus 로고
    • Mitochondrial complex I inhibition is not required for dopaminergic neuron death induced by rotenone, MPP+, or paraquat
    • Choi WS, Kruse SE, Palmiter RD et al (2008) Mitochondrial complex I inhibition is not required for dopaminergic neuron death induced by rotenone, MPP+, or paraquat. Proc Natl Acad Sci U S A 105: 15136-15141
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 15136-15141
    • Choi, W.S.1    Kruse, S.E.2    Palmiter, R.D.3
  • 19
    • 0037972522 scopus 로고    scopus 로고
    • Mitochondrial respiratory-chain diseases
    • DOI 10.1056/NEJMra022567
    • DiMauro S, Schon EA (2003) Mitochondrial respiratory-chain diseases. N Engl J Med 348:2656-2668 (Pubitemid 36741594)
    • (2003) New England Journal of Medicine , vol.348 , Issue.26 , pp. 2656-2668
    • DiMauro, S.1    Schon, E.A.2
  • 20
    • 65249126910 scopus 로고    scopus 로고
    • Mitochondrial complex I deficiency: From organelle dysfunction to clinical disease
    • Distelmaier F, Koopman WJ, van den Heuvel LP (2009a) Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain 132(Pt 4):833-842
    • (2009) Brain , vol.132 , Issue.PART 4 , pp. 833-842
    • Distelmaier, F.1    Koopman, W.J.2    Van Den Heuvel, L.P.3
  • 21
    • 67349115188 scopus 로고    scopus 로고
    • The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency
    • Distelmaier F, Visch HJ, Smeitink JA (2009b) The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency. J Mol Med 87:515-522
    • (2009) J Mol Med , vol.87 , pp. 515-522
    • Distelmaier, F.1    Visch, H.J.2    Smeitink, J.A.3
  • 22
    • 26444468451 scopus 로고    scopus 로고
    • Downregulation of apoptosis-inducing factor in harlequin mutant mice sensitizes the myocardium to oxidative stress-related cell death and pressure overload-induced decompensation
    • van Empel V, Bertrand AT, Van der NR (2005) Downregulation of apoptosis-inducing factor in harlequin mutant mice sensitizes the myocardium to oxidative stress-related cell death and pressure overload-induced decompensation. Circ Res 496:e92-e101
    • (2005) Circ Res , vol.496
    • Van Empel, V.1    Bertrand, A.T.2    Van Der, N.R.3
  • 24
    • 33846846449 scopus 로고    scopus 로고
    • X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy
    • Fernandez-Moreira D, Ugalde C, Smeets R (2007) Arenas J. X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. Ann Neurol 61:73-83
    • (2007) Ann Neurol , vol.61 , pp. 73-83
    • Fernandez-Moreira, D.1    Ugalde, C.2    Smeets, R.3    Arenas, J.4
  • 29
  • 31
    • 0036523991 scopus 로고    scopus 로고
    • CIA30 complex I assembly factor: A candidate for human complex I deficiency?
    • Janssen R, Smeitink J, Smeets R (2002) CIA30 complex I assembly factor: a candidate for human complex I deficiency? Hum Genet 110:264-270
    • (2002) Hum Genet , vol.110 , pp. 264-270
    • Janssen, R.1    Smeitink, J.2    Smeets, R.3
  • 35
    • 0037179691 scopus 로고    scopus 로고
    • The harlequin mouse mutation downregulates apoptosis-inducing factor
    • Klein JA, Longo-Guess CM, Rossmann MP et al (2002) The harlequin mouse mutation downregulates apoptosis-inducing factor. Nature 419:367-374
    • (2002) Nature , vol.419 , pp. 367-374
    • Klein, J.A.1    Longo-Guess, C.M.2    Rossmann, M.P.3
  • 36
    • 58149349815 scopus 로고    scopus 로고
    • Mitochondrial medicine: Entering the era of treatment
    • Koene S, Smeitink J (2009) Mitochondrial medicine: entering the era of treatment. J Intern Med 265:193-209
    • (2009) J Intern Med , vol.265 , pp. 193-209
    • Koene, S.1    Smeitink, J.2
  • 39
    • 30344453413 scopus 로고    scopus 로고
    • Simultaneous quantitative measurement and automated analysis of mitochondrial morphology, mass, potential, and motility in living human skin fibroblasts
    • DOI 10.1002/cyto.a.20198
    • Koopman WJ, Visch HJ, Smeitink JA et al (2006) Simultaneous quantitative measurement and automated analysis of mitochondrial morphology, mass, potential, and motility in living human skin fibroblasts. Cytometry A 69:1-12 (Pubitemid 43062691)
    • (2006) Cytometry Part A , vol.69 , Issue.1 , pp. 1-12
    • Koopman, W.J.H.1    Visch, H.-J.2    Smeitink, J.A.M.3    Willems, P.H.G.M.4
  • 40
    • 34447100263 scopus 로고    scopus 로고
    • Partial complex I inhibition decreases mitochondrial motility and increases matrix protein diffusion as revealed by fluorescence correlation spectroscopy
    • DOI 10.1016/j.bbabio.2007.03.013, PII S000527280700076X
    • Koopman WJ, Hink MA, Verkaart S et al (2007a) Partial complex I inhibition decreases mitochondrial motility and increases matrix protein diffusion as revealed by fluorescence correlation spectroscopy. Biochim Biophys Acta 1767:940-947 (Pubitemid 47031093)
    • (2007) Biochimica et Biophysica Acta - Bioenergetics , vol.1767 , Issue.7 , pp. 940-947
    • Koopman, W.J.H.1    Hink, M.A.2    Verkaart, S.3    Visch, H.-J.4    Smeitink, J.A.M.5    Willems, P.H.G.M.6
  • 41
    • 34547128370 scopus 로고    scopus 로고
    • Human NADH: Ubiquinone oxidoreductase deficiency: Radical changes in mitochondrial morphology?
    • Koopman WJ, Verkaart S, Visch HJ (2007b) Human NADH: ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology? Am J Physiol Cell Physiol 293:C22-C29
    • (2007) Am J Physiol Cell Physiol , vol.293
    • Koopman, W.J.1    Verkaart, S.2    Visch, H.J.3
  • 42
    • 48249133697 scopus 로고    scopus 로고
    • Inherited complex I deficiency is associated with faster protein diffusion in the matrix of moving mitochondria
    • Koopman WJ, Distelmaier F, Hink MA et al (2008a) Inherited complex I deficiency is associated with faster protein diffusion in the matrix of moving mitochondria. Am J Physiol Cell Physiol 294:C1124-C1132
    • (2008) Am J Physiol Cell Physiol , vol.294
    • Koopman, W.J.1    Distelmaier, F.2    Hink, M.A.3
  • 43
    • 46349094407 scopus 로고    scopus 로고
    • Mitigation of NADH: Ubiquinone oxidoreductase deficiency by chronic Trolox treatment
    • Koopman WJ, Verkaart S, van Emst-de Vries SE et al (2008b) Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment. Biochim Biophys Acta 1777:853-859
    • (2008) Biochim Biophys Acta , vol.1777 , pp. 853-859
    • Koopman, W.J.1    Verkaart, S.2    Van Emst-de Vries, S.E.3
  • 45
    • 0035202150 scopus 로고    scopus 로고
    • Animal models for respiratory chain disease
    • Larsson NG, Rustin P (2001) Animal models for respiratory chain disease. Trends Mol Med 7:578-581
    • (2001) Trends Mol Med , vol.7 , pp. 578-581
    • Larsson, N.G.1    Rustin, P.2
  • 46
    • 33750011601 scopus 로고    scopus 로고
    • Mitochondrial glutathione transport: Physiological, pathological and toxicological implications
    • Lash LH (2006) Mitochondrial glutathione transport: physiological, pathological and toxicological implications. Chem Biol Interact 163:54-67
    • (2006) Chem Biol Interact , vol.163 , pp. 54-67
    • Lash, L.H.1
  • 47
    • 34250164233 scopus 로고    scopus 로고
    • Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I
    • DOI 10.1128/MCB.00074-07
    • Lazarou M, McKenzie M, Ohtake A (2007) Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I. Mol Cell Biol 27:4228-4237 (Pubitemid 46906548)
    • (2007) Molecular and Cellular Biology , vol.27 , Issue.12 , pp. 4228-4237
    • Lazarou, M.1    McKenzie, M.2    Ohtake, A.3    Thorburn, D.R.4    Ryan, M.T.5
  • 48
    • 56649115977 scopus 로고    scopus 로고
    • Assembly of mitochondrial complex I and defects in disease
    • Lazarou M, Thorburn DR, Ryan MT et al (2009) Assembly of mitochondrial complex I and defects in disease. Biochim Biophys Acta 1793:78-88
    • (2009) Biochim Biophys Acta , vol.1793 , pp. 78-88
    • Lazarou, M.1    Thorburn, D.R.2    Ryan, M.T.3
  • 49
    • 67349159760 scopus 로고    scopus 로고
    • NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement
    • Leshinsky-Silver E, Lebre AS, Minai L (2009) NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. Mol Genet Metab 3:185-189
    • (2009) Mol Genet Metab , vol.3 , pp. 185-189
    • Leshinsky-Silver, E.1    Lebre, A.S.2    Minai, L.3
  • 50
    • 0000376151 scopus 로고
    • Subacute necrotizing encephalomyelopathy in an infant
    • Leigh D (1951) Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 14:216-221
    • (1951) J Neurol Neurosurg Psychiatry , vol.14 , pp. 216-221
    • Leigh, D.1
  • 51
    • 0034700807 scopus 로고    scopus 로고
    • Mitochondrial respiratory chain disorders I: Mitochondrial DNA defects
    • DOI 10.1016/S0140-6736(99)05225-3
    • Leonard JV, Schapira AH (2000) Mitochondrial respiratory chain disorders I: mitochondrial DNA defects. Lancet 355:299-304 (Pubitemid 30068529)
    • (2000) Lancet , vol.355 , Issue.9200 , pp. 299-304
    • Leonard, J.V.1    Schapira, A.H.V.2
  • 54
    • 40849135481 scopus 로고    scopus 로고
    • The Sirtuin family: Therapeutic targets to treat diseases of aging
    • Milne JC, Denu JM (2008) The Sirtuin family: therapeutic targets to treat diseases of aging. Curr Opin Chem Biol 12:11-17
    • (2008) Curr Opin Chem Biol , vol.12 , pp. 11-17
    • Milne, J.C.1    Denu, J.M.2
  • 55
    • 0018405404 scopus 로고
    • A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity
    • DOI 10.1016/0022-510X(79)90071-6
    • Morgan-Hughes JA, Darveniza P, Landon DN et al (1979) A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity. J Neurol Sci 43:27-46 (Pubitemid 9220250)
    • (1979) Journal of the Neurological Sciences , vol.43 , Issue.1 , pp. 27-46
    • Morgan-Hughes, J.A.1    Darveniza, P.2    Landon, D.N.3
  • 56
    • 57749100375 scopus 로고    scopus 로고
    • Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts
    • Mortiboys H, Thomas KJ, Koopman WJ et al (2009) Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts. Ann Neurology 64:555-565
    • (2009) Ann Neurology , vol.64 , pp. 555-565
    • Mortiboys, H.1    Thomas, K.J.2    Koopman, W.J.3
  • 57
    • 46349110018 scopus 로고    scopus 로고
    • Targeting lipophilic cations to mitochondria
    • Murphy MP (2008) Targeting lipophilic cations to mitochondria. Biochim Biophys Acta 1777:1028-1031
    • (2008) Biochim Biophys Acta , vol.1777 , pp. 1028-1031
    • Murphy, M.P.1
  • 58
    • 58249093939 scopus 로고    scopus 로고
    • How mitochondria produce reactive oxygen species
    • Murphy MP (2009) How mitochondria produce reactive oxygen species. Biochem J 417:1-13
    • (2009) Biochem J , vol.417 , pp. 1-13
    • Murphy, M.P.1
  • 59
    • 33847071146 scopus 로고    scopus 로고
    • Targeting antioxidants to mitochondria by conjugation to lipophilic cations
    • Murphy MP, Smith RA (2007) Targeting antioxidants to mitochondria by conjugation to lipophilic cations. Annu Rev Pharmacol Toxicol 56:629-656
    • (2007) Annu Rev Pharmacol Toxicol , vol.56 , pp. 629-656
    • Murphy, M.P.1    Smith, R.A.2
  • 60
    • 23744438352 scopus 로고    scopus 로고
    • Mitochondrial calcium signaling and energy metabolism
    • Nguyen MH, Jafri MS (2005) Mitochondrial calcium signaling and energy metabolism. Ann N Y Acad Sci 1047:127-137
    • (2005) Ann N Y Acad Sci , vol.1047 , pp. 127-137
    • Nguyen, M.H.1    Jafri, M.S.2
  • 61
    • 24644462789 scopus 로고    scopus 로고
    • Mitochondria and calcium signaling
    • Nicholls DG (2005) Mitochondria and calcium signaling. Cell Calcium 38:311-317
    • (2005) Cell Calcium , vol.38 , pp. 311-317
    • Nicholls, D.G.1
  • 63
    • 0035793474 scopus 로고    scopus 로고
    • Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome
    • DOI 10.1016/S0014-5793(00)02334-6, PII S0014579300023346
    • Papa S, Scacco S, Sardanelli AM (2001) Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome. FEBS Lett 489:259-262 (Pubitemid 32126420)
    • (2001) FEBS Letters , vol.489 , Issue.2-3 , pp. 259-262
    • Papa, S.1    Scacco, S.2    Sardanelli, A.M.3    Vergari, R.4    Papa, F.5    Budde, S.6    Van Den, H.L.7    Smeitink, J.8
  • 64
    • 0037029133 scopus 로고    scopus 로고
    • Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: The NDUFS4 gene
    • DOI 10.1016/S0378-1119(01)00810-1, PII S0378111901008101
    • Petruzzella V, Papa S (2002) Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene. Gene 286:149-154 (Pubitemid 34273872)
    • (2002) Gene , vol.286 , Issue.1 , pp. 149-154
    • Petruzzella, V.1    Papa, S.2
  • 65
    • 21244452397 scopus 로고    scopus 로고
    • Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants
    • DOI 10.1016/j.febslet.2005.05.035, PII S0014579305006393
    • Petruzzella V, Panelli D, Torraco A, Petruzzella V, Panelli D, Torraco A (2005) Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants. FEBS Lett 579:3770-3776 (Pubitemid 40897723)
    • (2005) FEBS Letters , vol.579 , Issue.17 , pp. 3770-3776
    • Petruzzella, V.1    Panelli, D.2    Torraco, A.3    Stella, A.4    Papa, S.5
  • 68
    • 33846961451 scopus 로고    scopus 로고
    • Use of mitochondrial antioxidant defenses for rescue of cells with a Leber hereditary optic neuropathy-causing mutation
    • Qi X, Sun L, Hauswirth WW et al (2007) Use of mitochondrial antioxidant defenses for rescue of cells with a Leber hereditary optic neuropathy-causing mutation. Arch Ophthalmol 125:268-272
    • (2007) Arch Ophthalmol , vol.125 , pp. 268-272
    • Qi, X.1    Sun, L.2    Hauswirth, W.W.3
  • 70
    • 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 RO, Hoefs SJ (2009) Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. Am J Hum Genet 6:718-727
    • (2009) Am J Hum Genet , vol.6 , pp. 718-727
    • Saada, A.1    Vogel, R.O.2    Hoefs, S.J.3
  • 72
    • 0034625326 scopus 로고    scopus 로고
    • CAMP-dependent phosphorylation of the nuclear encoded 18-kDa (IP) subunit of respiratory complex I and activation of the complex in serum- Starved mouse fibroblast cultures
    • DOI 10.1074/jbc.M001174200
    • Scacco S, Vergari R, Scarpulla RC et al (2000) cAMP-dependent phosphorylation of the nuclear encoded 18-kDa (IP) subunit of respiratory complex I and activation of the complex in serum-starved mouse fibroblast cultures. J Biol Chem 275:17578-17582 (Pubitemid 30430802)
    • (2000) Journal of Biological Chemistry , vol.275 , Issue.23 , pp. 17578-17582
    • Scacco, S.1    Vergari, R.2    Scarpulla, R.C.3    Technikova-Dobrova, Z.4    Sardanelli, A.5    Lambo, R.6    Lorusso, V.7    Papa, S.8
  • 74
    • 0037314215 scopus 로고    scopus 로고
    • Neuronal degeneration and mitochondrial dysfunction
    • DOI 10.1172/JCI200317741
    • Schon EA, Manfredi G (2003) Neuronal degeneration and mitochondrial dysfunction. J Clin Invest 111:303-312 (Pubitemid 36182203)
    • (2003) Journal of Clinical Investigation , vol.111 , Issue.3 , pp. 303-312
    • Schon, E.A.1    Manfredi, G.2
  • 75
    • 0035349906 scopus 로고    scopus 로고
    • The genetics and pathology of oxidative phosphorylation
    • DOI 10.1038/35072063
    • Smeitink J, van den Heuvel L, DiMauro S (2001) The genetics and pathology of oxidative phosphorylation. Nat Rev Genet 2:342-352 (Pubitemid 33673072)
    • (2001) Nature Reviews Genetics , vol.2 , Issue.5 , pp. 342-352
    • Smeitink, J.1    Van Den, H.L.2    DiMauro, S.3
  • 76
    • 33645052713 scopus 로고    scopus 로고
    • Mitochondrial medicine: A metabolic perspective on the pathology of oxidative phosphorylation disorders
    • Smeitink JA, Zeviani M, Turnbull DM et al (2006) Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. Cell Metab 3:9-13
    • (2006) Cell Metab , vol.3 , pp. 9-13
    • Smeitink, J.A.1    Zeviani, M.2    Turnbull, D.M.3
  • 77
    • 0033521741 scopus 로고    scopus 로고
    • Molecular characterization of mitochondrial apoptosis-inducing factor
    • Susin SA, Lorenzo HK, Zamzami N et al (1999) Molecular characterization of mitochondrial apoptosis-inducing factor. Nature 397(6718):441-446
    • (1999) Nature , vol.397 , Issue.6718 , pp. 441-446
    • Susin, S.A.1    Lorenzo, H.K.2    Zamzami, N.3
  • 78
    • 16844366665 scopus 로고    scopus 로고
    • A novel potassium channel in lymphocyte mitochondria
    • Szabò I, Bock J, Jekle A, Soddemann M (2005) A novel potassium channel in lymphocyte mitochondria. J Biol Chem 280:12790-12798
    • (2005) J Biol Chem , vol.280 , pp. 12790-12798
    • Szabò, I.1    Bock, J.2    Jekle, A.3    Soddemann, M.4
  • 79
    • 33748201552 scopus 로고    scopus 로고
    • Mitochondria-targeted peptide antioxidants: Novel neuroprotective agents
    • Szeto HH (2006) Mitochondria-targeted peptide antioxidants: novel neuroprotective agents. AAPS J 8:E521-E531
    • (2006) AAPS J , vol.8
    • Szeto, H.H.1
  • 80
    • 17744386166 scopus 로고    scopus 로고
    • 2+ release and catecholamine-induced arrhythmias in mitochondrial cardiomyopathy
    • DOI 10.1093/hmg/ddi119
    • Tavi P, Hansson A, Zhang SJ et al (2005) Abnormal Ca(2+) release and catecholamine-induced arrhythmias in mitochondrial cardiomyopathy. Hum Mol Genet 14:1069-1076 (Pubitemid 40575882)
    • (2005) Human Molecular Genetics , vol.14 , Issue.8 , pp. 1069-1076
    • Tavi, P.1    Hansson, A.2    Zhang, S.-J.3    Larsson, N.-G.4    Westerblad, H.5
  • 81
    • 1642382090 scopus 로고    scopus 로고
    • Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency
    • DOI 10.1093/hmg/ddh071
    • Ugalde C, Janssen RJ, van den Heuvel LP et al (2004) Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency. Hum Mol Genet 13:659-667 (Pubitemid 38379855)
    • (2004) Human Molecular Genetics , vol.13 , Issue.6 , pp. 659-667
    • Ugalde, C.1    Janssen, R.J.R.J.2    Van Den, H.L.P.3    Smeitink, J.A.M.4    Nijtmans, L.G.J.5
  • 83
    • 71949124041 scopus 로고    scopus 로고
    • Calcium and ATP handling in human NADH:ubiquinone oxidoreductase deficiency
    • ePub
    • Valsecchi F, Esseling JJ, Koopman WJ (2009) Calcium and ATP handling in human NADH:ubiquinone oxidoreductase deficiency. Biochim Biophys Acta 10 ePub
    • (2009) Biochim Biophys Acta , vol.10
    • Valsecchi, F.1    Esseling, J.J.2    Koopman, W.J.3
  • 90
    • 44749093824 scopus 로고    scopus 로고
    • Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency
    • Willems PH, Valsecchi F, Distelmaier F et al (2008) Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency. Cell Calcium 44:123-133
    • (2008) Cell Calcium , vol.44 , pp. 123-133
    • Willems, P.H.1    Valsecchi, F.2    Distelmaier, F.3
  • 91
    • 79955699043 scopus 로고
    • Motor systems and regulatory systems
    • Whishaw IQ, Kolb B (eds) Oxford University Press
    • Whishaw IQ, Kolb B (1983) Motor systems and regulatory systems In: Whishaw IQ, Kolb B (eds) The behavior of the laboratory rat. Oxford University Press, pp 121-245
    • (1983) The Behavior of the Laboratory Rat , pp. 121-245
    • Whishaw, I.Q.1    Kolb, B.2
  • 94
    • 66449105882 scopus 로고    scopus 로고
    • Architecture of complex I and its implications for electron transfer and proton pumping
    • Zickermann V, Kerscher S, Zwicker K (2009) Architecture of complex I and its implications for electron transfer and proton pumping. Biochim Biophys Acta 6:574-583
    • (2009) Biochim Biophys Acta , vol.6 , pp. 574-583
    • Zickermann, V.1    Kerscher, S.2    Zwicker, K.3


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