메뉴 건너뛰기




Volumn 170, Issue 1, 1999, Pages 24-31

Cellular and molecular studies in muscle and cultures from patients with multiple mitochondrial DNA deletions

Author keywords

Mitochondrial DNA; Multiple deletions; Muscle culture; Muscle satellite cells; Ophthalmoplegia

Indexed keywords

ENZYME; MITOCHONDRIAL DNA;

EID: 0032716524     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(99)00193-8     Document Type: Article
Times cited : (8)

References (40)
  • 3
    • 0016327931 scopus 로고
    • The number of mitochondrial deoxyribonucleic acid genomes in mouse L and human HeLa cells
    • Bogenhagen D., Clayton D. The number of mitochondrial deoxyribonucleic acid genomes in mouse L and human HeLa cells. J Biol Chem. 249:1974;7991-7995.
    • (1974) J Biol Chem , vol.249 , pp. 7991-7995
    • Bogenhagen, D.1    Clayton, D.2
  • 4
    • 0026054963 scopus 로고
    • Organization of multiple nucleoids and DNA molecules in mitochondria of a human cell
    • Satoh M., Kuroiwa T. Organization of multiple nucleoids and DNA molecules in mitochondria of a human cell. Exp Cell Res. 196:1991;137-140.
    • (1991) Exp Cell Res , vol.196 , pp. 137-140
    • Satoh, M.1    Kuroiwa, T.2
  • 6
    • 0025666322 scopus 로고
    • A mutation in the tRNA-Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Goto Y., Nonaka I., Horai S. A mutation in the tRNA-Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 348:1990;651-653.
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 9
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt I.J., Harding A.E., Morgan-Hughes J.A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 331:1988;717-719.
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 10
    • 0024499802 scopus 로고
    • Duplications of mitochondrial DNA in mitochondrial myopathy
    • Poulton J., Deadman M.E., Gardiner R.M. Duplications of mitochondrial DNA in mitochondrial myopathy. Lancet. 1:1989;236-240.
    • (1989) Lancet , vol.1 , pp. 236-240
    • Poulton, J.1    Deadman, M.E.2    Gardiner, R.M.3
  • 11
    • 0024317560 scopus 로고
    • Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with mitochondrial DNA deletion: A slip replication model and metabolic therapy
    • Shoffner J.M., Lott M.T., Voljavic A.S., Soueidan S.A., Costigan D.A., Wallace D.C. Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with mitochondrial DNA deletion: a slip replication model and metabolic therapy. Proc Natl Acad Sci USA. 86:1989;7952-7956.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 7952-7956
    • Shoffner, J.M.1    Lott, M.T.2    Voljavic, A.S.3    Soueidan, S.A.4    Costigan, D.A.5    Wallace, D.C.6
  • 12
    • 0024596946 scopus 로고
    • A direct repeat is a hotspot for large-scale deletions of human mitochondrial DNA
    • Schon E.A., Rizzuto R., Moraes C.T., Nakase H., Zeviani M., DiMauro S. A direct repeat is a hotspot for large-scale deletions of human mitochondrial DNA. Science. 244:1989;346-349.
    • (1989) Science , vol.244 , pp. 346-349
    • Schon, E.A.1    Rizzuto, R.2    Moraes, C.T.3    Nakase, H.4    Zeviani, M.5    Dimauro, S.6
  • 13
    • 0024321834 scopus 로고
    • Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome
    • Moraes C.T., Schon E.A., DiMauro S., Miranda A.F. Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome. Biochem Biophys Res Commun. 160:1989;765-771.
    • (1989) Biochem Biophys Res Commun , vol.160 , pp. 765-771
    • Moraes, C.T.1    Schon, E.A.2    Dimauro, S.3    Miranda, A.F.4
  • 14
    • 0009813223 scopus 로고
    • Molecular histology of mitochondrial diseases
    • S. DiMauro, & D.C. Wallace. New York: Raven Press
    • Shoubridge E.A. Molecular histology of mitochondrial diseases. DiMauro S., Wallace D.C. Mitochondrial DNA in human pathology. 1993;109-123 Raven Press, New York.
    • (1993) Mitochondrial DNA in Human Pathology , pp. 109-123
    • Shoubridge, E.A.1
  • 15
    • 0024601360 scopus 로고
    • An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
    • Zeviani M., Servidei S., Gellera C., Bertini E., DiMauro S., DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature. 339:1989;309-311.
    • (1989) Nature , vol.339 , pp. 309-311
    • Zeviani, M.1    Servidei, S.2    Gellera, C.3    Bertini, E.4    Dimauro, S.5    Didonato, S.6
  • 17
    • 0029996721 scopus 로고    scopus 로고
    • Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy
    • Bohlega S., Tanji K., Santorelli F.M., Hirano M., Al-Jishi A., DiMauro S. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology. 46:1996;1329-1334.
    • (1996) Neurology , vol.46 , pp. 1329-1334
    • Bohlega, S.1    Tanji, K.2    Santorelli, F.M.3    Hirano, M.4    Al-Jishi, A.5    Dimauro, S.6
  • 21
    • 0026637067 scopus 로고
    • Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia
    • Suomalainen A., Majander A., Haltia M., Somer H., Lonnqvist J., Savontaus M.L., Peltonen L. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest. 90:1992;61-66.
    • (1992) J Clin Invest , vol.90 , pp. 61-66
    • Suomalainen, A.1    Majander, A.2    Haltia, M.3    Somer, H.4    Lonnqvist, J.5    Savontaus, M.L.6    Peltonen, L.7
  • 22
    • 0025765287 scopus 로고
    • Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy
    • Cormier V., Rotig A., Tardieu M., Colonna M., Saudubray J.-M., Munnich A. Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy. Am J Hum Genet. 48:1991;643-648.
    • (1991) Am J Hum Genet , vol.48 , pp. 643-648
    • Cormier, V.1    Rotig, A.2    Tardieu, M.3    Colonna, M.4    Saudubray, J.-M.5    Munnich, A.6
  • 23
    • 0028109484 scopus 로고
    • Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother
    • Casademont J., Barrientos A., Cardellach F., Rötig A., Grau J.M., Montoya J., Beltran B. Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother. Hum Mol Genet. 3:1994;1945-1949.
    • (1994) Hum Mol Genet , vol.3 , pp. 1945-1949
    • Casademont, J.1    Barrientos, A.2    Cardellach, F.3    Rötig, A.4    Grau, J.M.5    Montoya, J.6    Beltran, B.7
  • 24
    • 0028352198 scopus 로고
    • Widespread tissue distribution of multiple mitochondrial DNA deletions in familial mitochondrial myopathy
    • Kawashima S., Ohta S., Kagawa Y., Yoshida M., Nishizawa M. Widespread tissue distribution of multiple mitochondrial DNA deletions in familial mitochondrial myopathy. Muscle Nerve. 17:1994;741-746.
    • (1994) Muscle Nerve , vol.17 , pp. 741-746
    • Kawashima, S.1    Ohta, S.2    Kagawa, Y.3    Yoshida, M.4    Nishizawa, M.5
  • 26
    • 0029005876 scopus 로고
    • Fine mapping of randomly distributed multiple deletions of mitochondrial DNA in a case of chronic progressive external ophthalmoplegia
    • Ville-Ferlin T., Dumoulin R., Stepien G., Matha V., Bady B., Flocard F., Carrier H., Mathieu M., Mousson B. Fine mapping of randomly distributed multiple deletions of mitochondrial DNA in a case of chronic progressive external ophthalmoplegia. Mol Cell Probes. 9:1995;207-214.
    • (1995) Mol Cell Probes , vol.9 , pp. 207-214
    • Ville-Ferlin, T.1    Dumoulin, R.2    Stepien, G.3    Matha, V.4    Bady, B.5    Flocard, F.6    Carrier, H.7    Mathieu, M.8    Mousson, B.9
  • 27
    • 0024448458 scopus 로고
    • Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
    • King M.P., Attardi G. Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science. 246:1989;500-503.
    • (1989) Science , vol.246 , pp. 500-503
    • King, M.P.1    Attardi, G.2
  • 28
    • 0022555796 scopus 로고
    • Measurement of the effect of interferons on cellular differentiation of human skeletal muscle cells
    • S. Pestka. Interferons. New York: Academic Press. Part c
    • Miranda A.F., Babiss L.E., Fisher P.B. Measurement of the effect of interferons on cellular differentiation of human skeletal muscle cells. Pestka S. Interferons. Methods in enzymology. 119:1986;619-628 Academic Press, New York. Part c.
    • (1986) Methods in Enzymology , vol.119 , pp. 619-628
    • Miranda, A.F.1    Babiss, L.E.2    Fisher, P.B.3
  • 29
    • 0021836793 scopus 로고
    • Acetylcholine receptors and acetylcholinesterase accumulate at the nerve-muscle contacts of de novo-grown human monolayer muscle co-cultured with fetal rat spinal cord
    • Kobayashi T., Askanas V. Acetylcholine receptors and acetylcholinesterase accumulate at the nerve-muscle contacts of de novo-grown human monolayer muscle co-cultured with fetal rat spinal cord. Exp Neurol. 88:1985;327-335.
    • (1985) Exp Neurol , vol.88 , pp. 327-335
    • Kobayashi, T.1    Askanas, V.2
  • 30
    • 0023261258 scopus 로고
    • De-novo neuromuscular junction formation on human muscle fibres cultured in monolayer and innervated by foetal rat spinal cord: Ultrastructural and ultrastructural-cytochemical studies
    • Askanas V., Kwan H., Alvarez R.B., Engel W.K., Kobayashi T., Martinuzzi A., Hawkins E.F. De-novo neuromuscular junction formation on human muscle fibres cultured in monolayer and innervated by foetal rat spinal cord: ultrastructural and ultrastructural-cytochemical studies. J Neurocytol. 16:1987;523-537.
    • (1987) J Neurocytol , vol.16 , pp. 523-537
    • Askanas, V.1    Kwan, H.2    Alvarez, R.B.3    Engel, W.K.4    Kobayashi, T.5    Martinuzzi, A.6    Hawkins, E.F.7
  • 31
    • 0028068062 scopus 로고
    • Innervation of MyoD-converted human amniocytes and fibroblasts by fetal rodent spinal cord neurons
    • Tanji K., Sancho S., Miranda A.F. Innervation of MyoD-converted human amniocytes and fibroblasts by fetal rodent spinal cord neurons. Neuromusc Disord. 4:1994;317-324.
    • (1994) Neuromusc Disord , vol.4 , pp. 317-324
    • Tanji, K.1    Sancho, S.2    Miranda, A.F.3
  • 32
    • 0342761115 scopus 로고
    • Isoenzymes as markers of differentiation
    • A. Mauro. New York: Raven Press
    • Miranda A.F., Somer H., DiMauro S. Isoenzymes as markers of differentiation. Mauro A. Muscle regeneration. 1979;453-473 Raven Press, New York.
    • (1979) Muscle Regeneration , pp. 453-473
    • Miranda, A.F.1    Somer, H.2    Dimauro, S.3
  • 33
    • 0345351973 scopus 로고
    • Techniques for enucleation of mammalian cells
    • J.W. Shay. New York: Plenum Press
    • Veomett G.E. Techniques for enucleation of mammalian cells. Shay J.W. Techniques in somatic cell genetics. 1982;67-79 Plenum Press, New York.
    • (1982) Techniques in Somatic Cell Genetics , pp. 67-79
    • Veomett, G.E.1
  • 34
    • 0020793569 scopus 로고
    • A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
    • Feinberg A.P., Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 132:1983;6-13.
    • (1983) Anal Biochem , vol.132 , pp. 6-13
    • Feinberg, A.P.1    Vogelstein, B.2
  • 35
    • 0028140454 scopus 로고
    • Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy
    • Sciacco M., Bonilla E., Schon E.A., DiMauro S., Moraes C.T. Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy. Hum Mol Genet. 3:1994;13-19.
    • (1994) Hum Mol Genet , vol.3 , pp. 13-19
    • Sciacco, M.1    Bonilla, E.2    Schon, E.A.3    Dimauro, S.4    Moraes, C.T.5
  • 36
    • 0008718521 scopus 로고
    • The satellite cell
    • A.G. Engel, & B.Q. Banker. New York: McGraw-Hill
    • Mazanet R., Franzini-Armstrong C. The satellite cell. Engel A.G., Banker B.Q. Myology. 1986;285-307 McGraw-Hill, New York.
    • (1986) Myology , pp. 285-307
    • Mazanet, R.1    Franzini-Armstrong, C.2
  • 37
    • 0028229152 scopus 로고
    • Mitochondrial DNA diseases: Histological and cellular studies
    • Shoubridge E.A. Mitochondrial DNA diseases: histological and cellular studies. J Bioenerg Biomembr. 26:1994;301-310.
    • (1994) J Bioenerg Biomembr , vol.26 , pp. 301-310
    • Shoubridge, E.A.1
  • 38
    • 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. 51:1992;1187-1200.
    • (1992) Am J Hum Genet , vol.51 , pp. 1187-1200
    • Boulet, L.1    Karpati, G.2    Shoubridge, E.A.3
  • 39
    • 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 S.T., Nonaka I., Angelini C., Attardi G. 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. 89:1992;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    Nonaka, I.8    Angelini, C.9    Attardi, G.10
  • 40
    • 0029834809 scopus 로고    scopus 로고
    • Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia
    • Moslemi A.R., Melberg A., Holme E., Oldfors A. Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia. Ann Neurol. 40:1996;707-713.
    • (1996) Ann Neurol , vol.40 , pp. 707-713
    • Moslemi, A.R.1    Melberg, A.2    Holme, E.3    Oldfors, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.