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Volumn 118 A, Issue 3, 2003, Pages 247-254

Pathogenic role of mtDNA duplications in mitochondrial diseases associated with mtDNA deletions

Author keywords

Mitochondrial encephalomyopathies; MtDNA deletions; MtDNA duplications; Multiple mtDNA rearrangements

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; UBIQUINOL CYTOCHROME C REDUCTASE;

EID: 0041820362     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20006     Document Type: Article
Times cited : (16)

References (25)
  • 4
    • 0029059965 scopus 로고
    • Kearns-Sayre syndrome associated with mitochondrial DNA deletions or duplications: A molecular genetic and pathologic study
    • Brockington M, Alsanjari N, Sweeney MG, Morgan-Hughes JA, Scaravilli F, Harding AE. 1995. Kearns-Sayre syndrome associated with mitochondrial DNA deletions or duplications: A molecular genetic and pathologic study. J Neurol Sci 131:78-87.
    • (1995) J Neurol Sci , vol.131 , pp. 78-87
    • Brockington, M.1    Alsanjari, N.2    Sweeney, M.G.3    Morgan-Hughes, J.A.4    Scaravilli, F.5    Harding, A.E.6
  • 6
    • 0027381483 scopus 로고
    • Maternally inherited partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus
    • Dunbar DR, Moonie PA, Swingler RJ, Davidson D, Roberts R, Holt IJ. 1993. Maternally inherited partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus. Hum Mol Genet 2:1619-1624.
    • (1993) Hum Mol Genet , vol.2 , pp. 1619-1624
    • Dunbar, D.R.1    Moonie, P.A.2    Swingler, R.J.3    Davidson, D.4    Roberts, R.5    Holt, I.J.6
  • 7
    • 0030752678 scopus 로고    scopus 로고
    • High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart
    • Fromenty B, Carrozzo R, Shanske S, Schon EA. 1997. High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart. Am J Med Genet 71:443-452.
    • (1997) Am J Med Genet , vol.71 , pp. 443-452
    • Fromenty, B.1    Carrozzo, R.2    Shanske, S.3    Schon, E.A.4
  • 8
    • 0030811485 scopus 로고    scopus 로고
    • Behaviour of a population of partially duplicated mitochondrial DNA molecules in a cell culture: Segregation, maintenance and recombination dependent upon nuclear background
    • Holt IJ, Dunbar DR, Jacobs HT. 1997. Behaviour of a population of partially duplicated mitochondrial DNA molecules in a cell culture: Segregation, maintenance and recombination dependent upon nuclear background. Hum Mol Genet 6:1251-1260.
    • (1997) Hum Mol Genet , vol.6 , pp. 1251-1260
    • Holt, I.J.1    Dunbar, D.R.2    Jacobs, H.T.3
  • 10
    • 0029872652 scopus 로고    scopus 로고
    • Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR
    • Moraes CT, Schon EA. 1996. Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR. Methods Enzymol 24:522-540.
    • (1996) Methods Enzymol , vol.24 , pp. 522-540
    • Moraes, C.T.1    Schon, E.A.2
  • 11
    • 0035931461 scopus 로고    scopus 로고
    • Clinical implications of duplicated mtDNA in Pearson Syndrome
    • Muraki K, Sakura N, Ueda H, Kihara H, Goto Y. 2001. Clinical implications of duplicated mtDNA in Pearson Syndrome. Am J Med Genet 98:205-209.
    • (2001) Am J Med Genet , vol.98 , pp. 205-209
    • Muraki, K.1    Sakura, N.2    Ueda, H.3    Kihara, H.4    Goto, Y.5
  • 12
    • 0026765439 scopus 로고
    • Duplications of mitochondrial DNA: Implications for pathogenesis
    • Poulton J. 1992. Duplications of mitochondrial DNA: Implications for pathogenesis. J Inherit Metab Dis 15:487-498.
    • (1992) J Inherit Metab Dis , vol.15 , pp. 487-498
    • Poulton, J.1
  • 13
    • 0024499802 scopus 로고
    • Duplications of mitochondrial DNA in mitochondrial myopathy
    • Poulton J, Deadman ME, Mark Gardiner R. 1989. Duplications of mitochondrial DNA in mitochondrial myopathy. Lancet i:236-240.
    • (1989) Lancet , vol.1 , pp. 236-240
    • Poulton, J.1    Deadman, M.E.2    Mark Gardiner, R.3
  • 14
    • 0027403570 scopus 로고
    • Families of mtDNA rearrangements can be detected in patients with mtDNA deletions: Duplications may be a transient intermediate form
    • Poulton J, Deadman ME, Bindoff L, Morten K, Land J, Brown G. 1993. Families of mtDNA rearrangements can be detected in patients with mtDNA deletions: Duplications may be a transient intermediate form. Hum Mol Genet 2:23-30.
    • (1993) Hum Mol Genet , vol.2 , pp. 23-30
    • Poulton, J.1    Deadman, M.E.2    Bindoff, L.3    Morten, K.4    Land, J.5    Brown, G.6
  • 17
    • 0026569283 scopus 로고
    • Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia
    • Rotig A, Bessis JL, Romero N, Cormier V, Saudubray JM, Narcy P, Lenoir G, Rustin P, Munnich A. 1992. Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. Am J Hum Genet 50:364-370.
    • (1992) Am J Hum Genet , vol.50 , pp. 364-370
    • Rotig, A.1    Bessis, J.L.2    Romero, N.3    Cormier, V.4    Saudubray, J.M.5    Narcy, P.6    Lenoir, G.7    Rustin, P.8    Munnich, A.9
  • 20
    • 0034128803 scopus 로고    scopus 로고
    • Rearrangements of human mitochondrial DNA (mtDNA): New insights into the regulation of mtDNA copy number and gene expression
    • Tang Y, Schon EA, Wilichowski E, Vasquez-Memije M, Davidson E, King MP. 2000a. Rearrangements of human mitochondrial DNA (mtDNA): New insights into the regulation of mtDNA copy number and gene expression. Mol Biol Cell 11:1471-1485.
    • (2000) Mol Biol Cell , vol.11 , pp. 1471-1485
    • Tang, Y.1    Schon, E.A.2    Wilichowski, E.3    Vasquez-Memije, M.4    Davidson, E.5    King, M.P.6
  • 21
    • 0033928582 scopus 로고    scopus 로고
    • Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines
    • Tang Y, Manfredi G, Hirano M, Schon EA. 2000b. Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines. Mol Biol Cell 11:2349-2358.
    • (2000) Mol Biol Cell , vol.11 , pp. 2349-2358
    • Tang, Y.1    Manfredi, G.2    Hirano, M.3    Schon, E.A.4
  • 22
    • 0032570932 scopus 로고    scopus 로고
    • Duplication and triplication with staggered breakpoints in human mitochondrial DNA
    • Tengan CH, Moraes CTM. 1998a. Duplication and triplication with staggered breakpoints in human mitochondrial DNA. Biochim Biophys Acta 1406:73-80.
    • (1998) Biochim Biophys Acta , vol.1406 , pp. 73-80
    • Tengan, C.H.1    Moraes, C.T.M.2
  • 23
    • 0031594759 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathy and hypoparathyrodism associated witha a duplication and a deletion of mitochondrial deoxyribonucleic acid
    • Tengan CH, Kiyomoto BH, Rocha MS, Tavares VLS, Gabbai AA, Moraes CT. 1998b. Mitochondrial encephalomyopathy and hypoparathyrodism associated witha a duplication and a deletion of mitochondrial deoxyribonucleic acid. J Clin Endocrinol Metab 83:125-129.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 125-129
    • Tengan, C.H.1    Kiyomoto, B.H.2    Rocha, M.S.3    Tavares, V.L.S.4    Gabbai, A.A.5    Moraes, C.T.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.