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Volumn 837, Issue , 2012, Pages 17-34

Nuclear gene defects in mitochondrial disorders

Author keywords

Mitochondria; Mitochondrial cytopathies; Nuclear genes; Respiratory chain defects

Indexed keywords

MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN;

EID: 84856348549     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-61779-504-6_2     Document Type: Article
Times cited : (12)

References (98)
  • 2
    • 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
  • 3
    • 77950354207 scopus 로고    scopus 로고
    • Pathogenesis and treatment of mitochondrial disorders
    • DiMauro, S., and Hirano, M. (2009) Pathogenesis and treatment of mitochondrial disorders, Adv Exp Med Biol 652, 139-170.
    • (2009) Adv Exp Med Biol , vol.652 , pp. 139-170
    • Dimauro, S.1    Hirano, M.2
  • 8
    • 0035349906 scopus 로고    scopus 로고
    • The genetics and pathology of oxidative phosphorylation
    • DOI 10.1038/35072063
    • Smeitink, J., van den Heuvel, L., and 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 Heuvel, L.2    DiMauro, S.3
  • 10
    • 77953286366 scopus 로고    scopus 로고
    • Genetic bases of mitochondrial respiratory chain disorders
    • Rotig, A. Genetic bases of mitochondrial respiratory chain disorders, Diabetes Metab 36, 97-107.
    • Diabetes Metab , vol.36 , pp. 97-107
    • Rotig, A.1
  • 13
    • 61549103491 scopus 로고    scopus 로고
    • Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene
    • Shteyer, E., Saada, A., Shaag, A., Al-Hijawi, F. A., Kidess, R., Revel-Vilk, S., and Elpeleg, O. (2009) Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene, Am J Hum Genet 84, 412-417.
    • (2009) Am J Hum Genet , vol.84 , pp. 412-417
    • Shteyer, E.1    Saada, A.2    Shaag, A.3    Al-Hijawi, F.A.4    Kidess, R.5    Revel-Vilk, S.6    Elpeleg, O.7
  • 15
    • 77956250930 scopus 로고    scopus 로고
    • Coenzyme Q and mitochondrial disease
    • Quinzii, C. M., and Hirano, M. Coenzyme Q and mitochondrial disease, Dev Disabil Res Rev 16, 183-188.
    • Dev Disabil Res Rev , vol.16 , pp. 183-188
    • Quinzii, C.M.1    Hirano, M.2
  • 17
    • 33847347629 scopus 로고    scopus 로고
    • Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders
    • DOI 10.1172/JCI29089
    • Mollet, J., Giurgea, I., Schlemmer, D., Dallner, G., Chretien, D., Delahodde, A., Bacq, D., de Lonlay, P., Munnich, A., and Rotig, A. (2007) Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders, J Clin Invest 117, 765-772. (Pubitemid 46348535)
    • (2007) Journal of Clinical Investigation , vol.117 , Issue.3 , pp. 765-772
    • Mollet, J.1    Giurgea, I.2    Schlemmer, D.3    Dallner, G.4    Chretien, D.5    Delahodde, A.6    Bacq, D.7    De Lonlay, P.8    Munnich, A.9    Rotig, A.10
  • 23
    • 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
  • 24
    • 34447312250 scopus 로고    scopus 로고
    • Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease
    • DOI 10.1038/sj.emboj.7601748, PII 7601748
    • Dunning, C. J., McKenzie, M., Sugiana, C., Lazarou, M., Silke, J., Connelly, A., Fletcher, J. M., Kirby, D. M., Thorburn, D. R., and Ryan, M. T. (2007) Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease, EMBO J 26, 3227-3237. (Pubitemid 47057488)
    • (2007) EMBO Journal , vol.26 , Issue.13 , pp. 3227-3237
    • Dunning, C.J.R.1    McKenzie, M.2    Sugiana, C.3    Lazarou, M.4    Silke, J.5    Connelly, A.6    Fletcher, J.M.7    Kirby, D.M.8    Thorburn, D.R.9    Ryan, M.T.10
  • 32
    • 66149139796 scopus 로고    scopus 로고
    • Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1
    • Leary, S. C., Sasarman, F., Nishimura, T., and Shoubridge, E. A. (2009) Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1, Hum Mol Genet 18, 2230-2240.
    • (2009) Hum Mol Genet , vol.18 , pp. 2230-2240
    • Leary, S.C.1    Sasarman, F.2    Nishimura, T.3    Shoubridge, E.A.4
  • 37
    • 3142658677 scopus 로고    scopus 로고
    • Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome
    • Oquendo, C. E., Antonicka, H., Shoubridge, E. A., Reardon, W., and Brown, G. K. (2004) Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome, J Med Genet 41, 540-544. (Pubitemid 38932115)
    • (2004) Journal of Medical Genetics , vol.41 , Issue.7 , pp. 540-544
    • Oquendo, C.E.1    Antonicka, H.2    Shoubridge, E.A.3    Reardon, W.4    Brown, G.K.5
  • 38
    • 4344595430 scopus 로고    scopus 로고
    • The role of the LRPPRC (leucine-rich pentatricopeptide repeal cassette) gene in cytochrome oxidase assembly: Mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA
    • DOI 10.1042/BJ20040469
    • Xu, F., Morin, C., Mitchell, G., Ackerley, C., and Robinson, B. H. (2004) The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA, Biochem J 382, 331-336. (Pubitemid 39141597)
    • (2004) Biochemical Journal , vol.382 , Issue.1 , pp. 331-336
    • Xu, F.1    Morin, C.2    Mitchell, G.3    Ackerley, C.4    Robinson, B.H.5
  • 45
    • 44349149346 scopus 로고    scopus 로고
    • Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect
    • DOI 10.1093/hmg/ddn057
    • Olsson, A., Lind, L., Thornell, L. E., and Holmberg, M. (2008) Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect, Hum Mol Genet 17, 1666-1672. (Pubitemid 351737170)
    • (2008) Human Molecular Genetics , vol.17 , Issue.11 , pp. 1666-1672
    • Olsson, A.1    Lind, L.2    Thornell, L.-E.3    Holmberg, M.4
  • 46
    • 34250676955 scopus 로고    scopus 로고
    • Mitochondrial diseases: Therapeutic approaches
    • DOI 10.1007/s10540-007-9041-4
    • DiMauro, S., and Mancuso, M. (2007) Mitochondrial diseases: therapeutic approaches, Biosci Rep 27, 125-137. (Pubitemid 46940941)
    • (2007) Bioscience Reports , vol.27 , Issue.1-3 , pp. 125-137
    • DiMauro, S.1    Mancuso, M.2
  • 47
    • 23644436319 scopus 로고    scopus 로고
    • Disorders of nuclear-mitochondrial intergenomic signaling
    • DOI 10.1016/j.gene.2005.03.025, PII S0378111905001769
    • Spinazzola, A., and Zeviani, M. (2005) Disorders of nuclear-mitochondrial intergenomic signaling, Gene 354, 162-168. (Pubitemid 41116697)
    • (2005) Gene , vol.354 , Issue.1-2 SPEC. ISS. , pp. 162-168
    • Spinazzola, A.1    Zeviani, M.2
  • 48
    • 67349191588 scopus 로고    scopus 로고
    • DNA polymerase gamma and mitochondrial disease: Understanding the consequence of POLG mutations
    • Chan, S. S., and Copeland, W. C. (2009) DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations, Biochim Biophys Acta 1787, 312-319.
    • (2009) Biochim Biophys Acta , vol.1787 , pp. 312-319
    • Chan, S.S.1    Copeland, W.C.2
  • 49
    • 71849087384 scopus 로고    scopus 로고
    • Genetic causes of mitochondrial DNA depletion in humans
    • Rotig, A., and Poulton, J. (2009) Genetic causes of mitochondrial DNA depletion in humans, Biochim Biophys Acta 1792, 1103-1108.
    • (2009) Biochim Biophys Acta , vol.1792 , pp. 1103-1108
    • Rotig, A.1    Poulton, J.2
  • 50
    • 0034943967 scopus 로고    scopus 로고
    • Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
    • DOI 10.1038/90034
    • Van Goethem, G., Dermaut, B., Lofgren, A., Martin, J. J., and Van Broeckhoven, C. (2001) Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions, Nat Genet 28, 211-212. (Pubitemid 32626018)
    • (2001) Nature Genetics , vol.28 , Issue.3 , pp. 211-212
    • Van Goethem, G.1    Dermaut, B.2    Lofgren, A.3    Martin, J.-J.4    Van Broeckhoven, C.5
  • 51
    • 0032900339 scopus 로고    scopus 로고
    • Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers' syndrome
    • DOI 10.1002/1531-8249(199901)45:1<54::AID-ART10>3.0.CO;2-B
    • Naviaux, R. K., Nyhan, W. L., Barshop, B. A., Poulton, J., Markusic, D., Karpinski, N. C., and Haas, R. H. (1999) Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome, Ann Neurol 45, 54-58. (Pubitemid 29036432)
    • (1999) Annals of Neurology , vol.45 , Issue.1 , pp. 54-58
    • Naviaux, R.K.1    Nyhan, W.L.2    Barshop, B.A.3    Poulton, J.4    Markusic, D.5    Karpinski, N.C.6    Haas, R.H.7
  • 53
    • 77954035632 scopus 로고    scopus 로고
    • Mitochondrial DNA depletion syndromes-many genes, common mechanisms
    • Suomalainen, A., and Isohanni, P. Mitochondrial DNA depletion syndromes-many genes, common mechanisms, Neuromuscul Disord 20, 429-437.
    • Neuromuscul Disord , vol.20 , pp. 429-437
    • Suomalainen, A.1    Isohanni, P.2
  • 56
    • 58149333245 scopus 로고    scopus 로고
    • Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk
    • Spinazzola, A., and Zeviani, M. (2009) Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk, J Intern Med 265, 174-192.
    • (2009) J Intern Med , vol.265 , pp. 174-192
    • Spinazzola, A.1    Zeviani, M.2
  • 57
    • 84856357853 scopus 로고    scopus 로고
    • Scaglia, F., Dimmock, D., and Wong, L. J. (1993)
    • Scaglia, F., Dimmock, D., and Wong, L. J. (1993).
  • 59
    • 57849144280 scopus 로고    scopus 로고
    • Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency
    • Dimmock, D. P., Dunn, J. K., Feigenbaum, A., Rupar, A., Horvath, R., Freisinger, P., Mousson de Camaret, B., Wong, L. J., and Scaglia, F. (2008) Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency, Liver Transpl 14, 1480-1485.
    • (2008) Liver Transpl , vol.14 , pp. 1480-1485
    • Dimmock, D.P.1    Dunn, J.K.2    Feigenbaum, A.3    Rupar, A.4    Horvath, R.5    Freisinger, P.6    Mousson De Camaret, B.7    Wong, L.J.8    Scaglia, F.9
  • 61
    • 33847616158 scopus 로고    scopus 로고
    • Depletion of mtDNA: Syndromes and genes
    • DOI 10.1016/j.mito.2006.11.010, PII S1567724906002352, Mitochondria and Life
    • Alberio, S., Mineri, R., Tiranti, V., and Zeviani, M. (2007) Depletion of mtDNA: syndromes and genes, Mitochondrion 7, 6-12. (Pubitemid 46351969)
    • (2007) Mitochondrion , vol.7 , Issue.1-2 , pp. 6-12
    • Alberio, S.1    Mineri, R.2    Tiranti, V.3    Zeviani, M.4
  • 62
    • 39649120348 scopus 로고    scopus 로고
    • Inherited mitochondrial diseases of DNA replication
    • DOI 10.1146/annurev.med.59.053006.104646
    • Copeland, W. C. (2008) Inherited mitochondrial diseases of DNA replication, Annu Rev Med 59, 131-146. (Pubitemid 351287928)
    • (2008) Annual Review of Medicine , vol.59 , pp. 131-146
    • Copeland, W.C.1
  • 63
    • 76349116705 scopus 로고    scopus 로고
    • MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations
    • El-Hattab, A. W., Li, F. Y., Schmitt, E., Zhang, S., Craigen, W. J., and Wong, L. J. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations, Mol Genet Metab 99, 300-308.
    • Mol Genet Metab , vol.99 , pp. 300-308
    • El-Hattab, A.W.1    Li, F.Y.2    Schmitt, E.3    Zhang, S.4    Craigen, W.J.5    Wong, L.J.6
  • 64
    • 0035179561 scopus 로고    scopus 로고
    • Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
    • DOI 10.1038/ng751
    • Saada, A., Shaag, A., Mandel, H., Nevo, Y., Eriksson, S., and Elpeleg, O. (2001) Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy, Nat Genet 29, 342-344. (Pubitemid 33096463)
    • (2001) Nature Genetics , vol.29 , Issue.3 , pp. 342-344
    • Saada, A.1    Shaag, A.2    Mandel, H.3    Nevo, Y.4    Eriksson, S.5    Elpeleg, O.6
  • 70
    • 78651450525 scopus 로고    scopus 로고
    • Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: A mitochondrial DNA depletion disorder
    • Randolph, L. M., Jackson, H. A., Wang, J., Shimada, H., Sanchez-Lara, P. A., Wong, D. A., Wong, L. J., and Boles, R. G. Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder, Mol Genet Metab 102, 149-152.
    • Mol Genet Metab , vol.102 , pp. 149-152
    • Randolph, L.M.1    Jackson, H.A.2    Wang, J.3    Shimada, H.4    Sanchez-Lara, P.A.5    Wong, D.A.6    Wong, L.J.7    Boles, R.G.8
  • 73
    • 0033613865 scopus 로고    scopus 로고
    • Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
    • Nishino, I., Spinazzola, A., and Hirano, M. (1999) Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder, Science 283, 689-692.
    • (1999) Science , vol.283 , pp. 689-692
    • Nishino, I.1    Spinazzola, A.2    Hirano, M.3
  • 74
    • 0037470726 scopus 로고    scopus 로고
    • Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency
    • DOI 10.1016/S0006-291X(03)00294-8
    • Marti, R., Nishigaki, Y., and Hirano, M. (2003) Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency, Biochem Biophys Res Commun 303, 14-18. (Pubitemid 36338200)
    • (2003) Biochemical and Biophysical Research Communications , vol.303 , Issue.1 , pp. 14-18
    • Marti, R.1    Nishigaki, Y.2    Hirano, M.3
  • 77
    • 34249008188 scopus 로고    scopus 로고
    • Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA)
    • DOI 10.1016/j.ymgme.2007.02.006, PII S1096719207000716
    • Bykhovskaya, Y., Mengesha, E., and Fischel-Ghodsian, N. (2007) Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA), Mol Genet Metab 91, 148-156. (Pubitemid 46779090)
    • (2007) Molecular Genetics and Metabolism , vol.91 , Issue.2 , pp. 148-156
    • Bykhovskaya, Y.1    Mengesha, E.2    Fischel-Ghodsian, N.3
  • 78
    • 2442691791 scopus 로고    scopus 로고
    • Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)
    • DOI 10.1086/421530
    • Bykhovskaya, Y., Casas, K., Mengesha, E., Inbal, A., and Fischel-Ghodsian, N. (2004) Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA), Am J Hum Genet 74, 1303-1308. (Pubitemid 38669331)
    • (2004) American Journal of Human Genetics , vol.74 , Issue.6 , pp. 1303-1308
    • Bykhovskaya, Y.1    Casas, K.2    Mengesha, E.3    Inbal, A.4    Fischel-Ghodsian, N.5
  • 91
    • 25444514731 scopus 로고    scopus 로고
    • Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: New implications for Charcot-Marie-Tooth disease
    • DOI 10.1083/jcb.200507087
    • Niemann, A., Ruegg, M., La Padula, V., Schenone, A., and Suter, U. (2005) Gangliosideinduced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease, J Cell Biol 170, 1067-1078. (Pubitemid 41362639)
    • (2005) Journal of Cell Biology , vol.170 , Issue.7 , pp. 1067-1078
    • Niemann, A.1    Ruegg, M.2    La Padula, V.3    Schenone, A.4    Suter, U.5
  • 92
    • 33749061065 scopus 로고    scopus 로고
    • Barth syndrome, a human disorder of cardiolipin metabolism
    • DOI 10.1016/j.febslet.2006.07.022, PII S001457930600857X
    • Schlame, M., and Ren, M. (2006) Barth syndrome, a human disorder of cardiolipin metabolism, FEBS Lett 580, 5450-5455. (Pubitemid 44465900)
    • (2006) FEBS Letters , vol.580 , Issue.23 , pp. 5450-5455
    • Schlame, M.1    Ren, M.2
  • 94
    • 0036501592 scopus 로고    scopus 로고
    • Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex
    • Roesch, K., Curran, S. P., Tranebjaerg, L., and Koehler, C. M. (2002) Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex, Hum Mol Genet 11, 477-486. (Pubitemid 34257484)
    • (2002) Human Molecular Genetics , vol.11 , Issue.5 , pp. 477-486
    • Roesch, K.1    Curran, S.P.2    Tranebjaerg, L.3    Koehler, C.M.4
  • 96
    • 77954099503 scopus 로고    scopus 로고
    • Amish microcephaly: Longterm survival and biochemical characterization
    • Siu, V. M., Ratko, S., Prasad, A. N., Prasad, C., and Rupar, C. A. Amish microcephaly: Longterm survival and biochemical characterization, Am J Med Genet A 152A, 1747-1751.
    • Am J Med Genet A , vol.152 , pp. 1747-1751
    • Siu, V.M.1    Ratko, S.2    Prasad, A.N.3    Prasad, C.4    Rupar, C.A.5


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