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Volumn 62, Issue 4, 1998, Pages 745-751

The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; TRANSFER RNA;

EID: 0031900991     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301813     Document Type: Article
Times cited : (53)

References (28)
  • 2
    • 0022965899 scopus 로고
    • Seven unidentified reading frames of human mitochondrial DNA encode subunits of the respiratory chain NADH dehydrogenase
    • Attardi G, Chomyn A, Doolittle RF, Mariottini P, Ragan CI (1986) Seven unidentified reading frames of human mitochondrial DNA encode subunits of the respiratory chain NADH dehydrogenase. Cold Spring Harb Symp Quant Biol 51:103-114
    • (1986) Cold Spring Harb Symp Quant Biol , vol.51 , pp. 103-114
    • Attardi, G.1    Chomyn, A.2    Doolittle, R.F.3    Mariottini, P.4    Ragan, C.I.5
  • 3
    • 0019826888 scopus 로고
    • Ontogenesis of mitochondrial reticulum in rat diaphragm muscle
    • Bakeeva LE, Chentsov YS, Skulachev VP (1981) Ontogenesis of mitochondrial reticulum in rat diaphragm muscle. Eur J Cell Biol 25:175-181
    • (1981) Eur J Cell Biol , vol.25 , pp. 175-181
    • Bakeeva, L.E.1    Chentsov, Y.S.2    Skulachev, V.P.3
  • 4
    • 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
  • 5
    • 0023163377 scopus 로고
    • Mitochondrial DNA and human evolution
    • Cann RL, Stoneking M, Wilson AC (1987) Mitochondrial DNA and human evolution. Nature 325:31-36
    • (1987) Nature , vol.325 , pp. 31-36
    • Cann, R.L.1    Stoneking, M.2    Wilson, A.C.3
  • 7
    • 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
  • 9
    • 0025601562 scopus 로고
    • Uncharged tRNA, protein synthesis, and the bacterial stringent response
    • Goldman E, Jakubowski H (1990) Uncharged tRNA, protein synthesis, and the bacterial stringent response. Mol Microbiol 4:2035-2040
    • (1990) Mol Microbiol , vol.4 , pp. 2035-2040
    • Goldman, E.1    Jakubowski, H.2
  • 10
    • 0021144748 scopus 로고
    • On auxotrophy for pyrimidines of respiration-deficient chick embryo cells
    • Grégoire M, Morais R, Quillam MA, Gravel D (1984) On auxotrophy for pyrimidines of respiration-deficient chick embryo cells. Eur J Biochem 142:49-55
    • (1984) Eur J Biochem , vol.142 , pp. 49-55
    • Grégoire, M.1    Morais, R.2    Quillam, M.A.3    Gravel, D.4
  • 11
    • 24844463031 scopus 로고    scopus 로고
    • Pathogenetic mechanism of the mitochondrial tRNASer(UCN) precursor 7445 mutation and coexisting complex I subunit mtDNA mutations associated with non-syndromic deafness
    • Guan M-X, Enriquez JA, Fischel-Ghodsian N, Attardi G (1997) Pathogenetic mechanism of the mitochondrial tRNASer(UCN) precursor 7445 mutation and coexisting complex I subunit mtDNA mutations associated with non-syndromic deafness. Am J Hum Genet Suppl 61:A309
    • (1997) Am J Hum Genet Suppl , vol.61
    • Guan, M.-X.1    Enriquez, J.A.2    Fischel-Ghodsian, N.3    Attardi, G.4
  • 12
    • 0031440879 scopus 로고    scopus 로고
    • Developmentally regulated mitochondrial fusion mediated by a conserved, novel, predicted GTPase
    • Hales KG, Fuller MT (1997) Developmentally regulated mitochondrial fusion mediated by a conserved, novel, predicted GTPase. Cell 90:121-129
    • (1997) Cell , vol.90 , pp. 121-129
    • Hales, K.G.1    Fuller, M.T.2
  • 13
    • 0025836655 scopus 로고
    • Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction
    • Hayashi J-I, Ohta S, Kikuchi A, Takemitsu M, Goto Y-I, Nonaka I (1991) Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci USA 88:10614-10618
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 10614-10618
    • Hayashi, J.-I.1    Ohta, S.2    Kikuchi, A.3    Takemitsu, M.4    Goto, Y.-I.5    Nonaka, I.6
  • 14
    • 0024448458 scopus 로고
    • Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
    • King MP, Attardi G (1989) Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 246:500-503
    • (1989) Science , vol.246 , pp. 500-503
    • King, M.P.1    Attardi, G.2
  • 15
    • 0029922167 scopus 로고    scopus 로고
    • Isolation of human cells lacking mitochondrial DNA
    • _(1996) Isolation of human cells lacking mitochondrial DNA. Methods Enzymol 264:304-313
    • (1996) Methods Enzymol , vol.264 , pp. 304-313
  • 17
    • 17344368267 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in idiopathic Parkinson disease
    • Parker WD, Swerdlow RH (1998) Mitochondrial dysfunction in idiopathic Parkinson disease. Am J Hum Genet 62: 758-762 (in this issue)
    • (1998) Am J Hum Genet , vol.62 , Issue.IN THIS ISSUE , pp. 758-762
    • Parker, W.D.1    Swerdlow, R.H.2
  • 19
    • 0031049863 scopus 로고    scopus 로고
    • Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np-7445 deafness-associated mitochondrial mutation
    • Reid FM, Rovio A, Holt IJ, Jacobs HT (1997) Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np-7445 deafness-associated mitochondrial mutation. Hum Mol Genet 6:443-449
    • (1997) Hum Mol Genet , vol.6 , pp. 443-449
    • Reid, F.M.1    Rovio, A.2    Holt, I.J.3    Jacobs, H.T.4
  • 20
    • 0028288558 scopus 로고
    • A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
    • Reid FM, Vernham GA, Jacobs HT (1994) A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat 3:243-247
    • (1994) Hum Mutat , vol.3 , pp. 243-247
    • Reid, F.M.1    Vernham, G.A.2    Jacobs, H.T.3
  • 23
    • 0026729835 scopus 로고
    • Mitochondrial genetics: Principles and practice
    • Shoffner JM, Wallace DC (1992) Mitochondrial genetics: principles and practice. Am J Hum Genet 51:1179-1186
    • (1992) Am J Hum Genet , vol.51 , pp. 1179-1186
    • Shoffner, J.M.1    Wallace, D.C.2
  • 24
    • 0031048986 scopus 로고    scopus 로고
    • The interorganellar interaction between distinct human mitochondria with deletion mutant mtDNA from a patient with mitochondrial disease and with HeLa mtDNA
    • Takai D, Inoue K, Goto Y-I, Nonaka I, Hayashi J-I (1997) The interorganellar interaction between distinct human mitochondria with deletion mutant mtDNA from a patient with mitochondrial disease and with HeLa mtDNA. J Biol Chem 272:6028-6033
    • (1997) J Biol Chem , vol.272 , pp. 6028-6033
    • Takai, D.1    Inoue, K.2    Goto, Y.-I.3    Nonaka, I.4    Hayashi, J.-I.5
  • 25
    • 0031029962 scopus 로고    scopus 로고
    • In vivo control of respiration by cytochrome c oxidase in wild-type and mitochondrial DNA mutation-carrying human cells
    • Villani G, Attardi G (1997) In vivo control of respiration by cytochrome c oxidase in wild-type and mitochondrial DNA mutation-carrying human cells. Proc Natl Acad Sci USA 94: 1166-1171
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 1166-1171
    • Villani, G.1    Attardi, G.2
  • 26
    • 0024163051 scopus 로고
    • Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease
    • Wallace DC, Zheng X, Lott MT, Shoffner JM, Hodge JA, Kelley RI, Epstein CM, et al (1988) Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 55:601-610
    • (1988) Cell , vol.55 , pp. 601-610
    • Wallace, D.C.1    Zheng, X.2    Lott, M.T.3    Shoffner, J.M.4    Hodge, J.A.5    Kelley, R.I.6    Epstein, C.M.7
  • 27
    • 0028348251 scopus 로고
    • Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles
    • Yoneda M, Miyatake T, Attardi G (1994) Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles. Mol Cell Biol 14:2699-2712
    • (1994) Mol Cell Biol , vol.14 , pp. 2699-2712
    • Yoneda, M.1    Miyatake, T.2    Attardi, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.