메뉴 건너뛰기




Volumn 60, Issue 6, 1997, Pages 1430-1438

Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE;

EID: 0030921064     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515460     Document Type: Article
Times cited : (49)

References (27)
  • 2
    • 0029017083 scopus 로고
    • Length heteroplasmy in the first hypervariable segment of the human mtDNA control region
    • Bendall KE, Sykes BC (1995) Length heteroplasmy in the first hypervariable segment of the human mtDNA control region. Am J Hum Genet 57:248-256
    • (1995) Am J Hum Genet , vol.57 , pp. 248-256
    • Bendall, K.E.1    Sykes, B.C.2
  • 3
    • 0026090209 scopus 로고
    • Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): A clinical, biochemical and molecular study
    • Bindoff LA, Desnuelle C, Birch-Machin MA, Pellissier J, Serratrice G, Dravet C, Bureau M, et al (1991) Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study. J Neurol Sci 102:17-24
    • (1991) J Neurol Sci , vol.102 , pp. 17-24
    • Bindoff, L.A.1    Desnuelle, C.2    Birch-Machin, M.A.3    Pellissier, J.4    Serratrice, G.5    Dravet, C.6    Bureau, M.7
  • 4
    • 0028049837 scopus 로고
    • Relaxed and stringent genomes: Why cytoplasmic genes don't obey Mendel's laws
    • Birky CW (1994) Relaxed and stringent genomes: why cytoplasmic genes don't obey Mendel's laws. J Hered 85:355-365
    • (1994) J Hered , vol.85 , pp. 355-365
    • Birky, C.W.1
  • 5
    • 0342334698 scopus 로고
    • Isolation and characterization of human muscle cells
    • 9
    • Blau HM, Webster C (9 1981) Isolation and characterization of human muscle cells. Proc Natl Acad Sci USA 78:5623-5627
    • (1981) Proc Natl Acad Sci USA , vol.78 , pp. 5623-5627
    • Blau, H.M.1    Webster, C.2
  • 6
    • 0026621445 scopus 로고
    • Lys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)
    • Lys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 51:1187-1200
    • (1992) Am J Hum Genet , vol.51 , pp. 1187-1200
    • Boulet, L.1    Karpati, G.2    Shoubridge, E.A.3
  • 7
    • 0027230737 scopus 로고
    • A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies
    • Brockington M, Sweeney MG, Hammans SR, Morgan-Hughes JA, Harding AE (1993) A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies. Nat Genet 4:67-71
    • (1993) Nat Genet , vol.4 , pp. 67-71
    • Brockington, M.1    Sweeney, M.G.2    Hammans, S.R.3    Morgan-Hughes, J.A.4    Harding, A.E.5
  • 8
    • 0026608057 scopus 로고
    • MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts
    • Chomyn A, Martinuzzi A, Yoneda M, Daga A, Hurko O, Johns D, Lai ST, et al (1992) MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. Proc Natl Acad Sci USA 89:4221-4225
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 4221-4225
    • Chomyn, A.1    Martinuzzi, A.2    Yoneda, M.3    Daga, A.4    Hurko, O.5    Johns, D.6    Lai, S.T.7
  • 9
    • 0025968499 scopus 로고
    • In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria
    • Chomyn A, Meola G, Bresolin N, Lai ST, Scarlato G, Attardi G (1991) In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. Mol Cell Biol 11:2236-2244
    • (1991) Mol Cell Biol , vol.11 , pp. 2236-2244
    • Chomyn, A.1    Meola, G.2    Bresolin, N.3    Lai, S.T.4    Scarlato, G.5    Attardi, G.6
  • 10
    • 0029079541 scopus 로고
    • Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes
    • Dunbar DR, Moonie PA, Jacobs HT, Holt IJ (1995) Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes. Proc Natl Acad Sci USA 92:6562-6566
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 6562-6566
    • Dunbar, D.R.1    Moonie, P.A.2    Jacobs, H.T.3    Holt, I.J.4
  • 11
    • 0029658242 scopus 로고    scopus 로고
    • Leu(CUN) mtDNA mutation in a sporadic patient with mitochondrial encephalopathy segregates rapidly in skeletal muscle and suggests an approach to therapy
    • Leu(CUN) mtDNA mutation in a sporadic patient with mitochondrial encephalopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. Hum Mol Genet 5:1835-1840
    • (1996) Hum Mol Genet , vol.5 , pp. 1835-1840
    • Fu, K.1    Harden, R.2    Johns, T.3    Genge, A.4    Karpati, G.5    Shoubridge, E.6
  • 12
    • 0029759163 scopus 로고    scopus 로고
    • How rapidly does the human mitochondrial genome evolve?
    • Howell N, Kubacka I, Mackey DA (1996) How rapidly does the human mitochondrial genome evolve? Am J Hum Genet 59:501-509
    • (1996) Am J Hum Genet , vol.59 , pp. 501-509
    • Howell, N.1    Kubacka, I.2    Mackey, D.A.3
  • 14
    • 0029816795 scopus 로고    scopus 로고
    • Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA
    • Jenuth JP, Peterson AC, Fu K, Shoubridge EA (1996) Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nat Genet 14: 146-151
    • (1996) Nat Genet , vol.14 , pp. 146-151
    • Jenuth, J.P.1    Peterson, A.C.2    Fu, K.3    Shoubridge, E.A.4
  • 15
    • 0027388963 scopus 로고
    • Cytochrome c oxidase activity in single muscle fibers: Assay techniques and diagnostic applications
    • Johnson MA, Bindoff LB, Turnbull DM (1993) Cytochrome c oxidase activity in single muscle fibers: assay techniques and diagnostic applications. Ann Neurol 33:28-35
    • (1993) Ann Neurol , vol.33 , pp. 28-35
    • Johnson, M.A.1    Bindoff, L.B.2    Turnbull, D.M.3
  • 17
    • 0025345775 scopus 로고
    • Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome
    • Larsson N, Holme E, Kristiansson B, Oldfors A, Tulinius M (1990) Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr Res 28: 131-136
    • (1990) Pediatr Res , vol.28 , pp. 131-136
    • Larsson, N.1    Holme, E.2    Kristiansson, B.3    Oldfors, A.4    Tulinius, M.5
  • 18
    • 0026928155 scopus 로고
    • Measurement of the activity of individual respiratory chain complexes in isolated mitochondria
    • Lowerson SA, Taylor L, Briggs HL, Turnbull DM (1992) Measurement of the activity of individual respiratory chain complexes in isolated mitochondria. Anal Biochem 205:372-374
    • (1992) Anal Biochem , vol.205 , pp. 372-374
    • Lowerson, S.A.1    Taylor, L.2    Briggs, H.L.3    Turnbull, D.M.4
  • 22
    • 0030030748 scopus 로고    scopus 로고
    • Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus
    • Thomas AW, Edwards A, Sherratt EJ, Majid A, Gagg J, Alcolado JC (1996) Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus. J Med Genet 33:253-255
    • (1996) J Med Genet , vol.33 , pp. 253-255
    • Thomas, A.W.1    Edwards, A.2    Sherratt, E.J.3    Majid, A.4    Gagg, J.5    Alcolado, J.C.6
  • 23
    • 0029911367 scopus 로고    scopus 로고
    • Mammalian mitochondria possess homologous recombination activity
    • Thyagarajan B, Padua RA, Campbell C (1996) Mammalian mitochondria possess homologous recombination activity. J Biol Chem 271:27536-27543
    • (1996) J Biol Chem , vol.271 , pp. 27536-27543
    • Thyagarajan, B.1    Padua, R.A.2    Campbell, C.3
  • 24
    • 0026624980 scopus 로고
    • Diseases of the mitochondrial DNA
    • Wallace DC (1992) Diseases of the mitochondrial DNA. Annu Rev Biochem 61:1175-1212
    • (1992) Annu Rev Biochem , vol.61 , pp. 1175-1212
    • Wallace, D.C.1
  • 25
    • 0028233947 scopus 로고
    • Mitochondrial DNA mutations in diseases of energy metabolism
    • _ (1994) Mitochondrial DNA mutations in diseases of energy metabolism. J Bioenerg Biomembr 26:241-250
    • (1994) J Bioenerg Biomembr , vol.26 , pp. 241-250
  • 27
    • 0026457825 scopus 로고
    • Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy
    • Yoneda M, Chomyn A, Martinuzzi A, Hurko O, Attardi G (1992) Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. Proc Nad Acad Sci USA 89:11164-11168
    • (1992) Proc Nad Acad Sci USA , vol.89 , pp. 11164-11168
    • Yoneda, M.1    Chomyn, A.2    Martinuzzi, A.3    Hurko, O.4    Attardi, G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.