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Volumn 6, Issue 11, 1997, Pages 1771-1780

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

Author keywords

[No Author keywords available]

Indexed keywords

EPITOPE; MEMBRANE PROTEIN; MONOCLONAL ANTIBODY;

EID: 9844222853     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.11.1771     Document Type: Article
Times cited : (652)

References (42)
  • 1
    • 0020641096 scopus 로고
    • Classification of the hereditary ataxias and paraplegias
    • Harding,A.E. (1983) Classification of the hereditary ataxias and paraplegias. Lancet, i, 1151-1155.
    • (1983) Lancet , vol.1 , pp. 1151-1155
    • Harding, A.E.1
  • 2
    • 0002841337 scopus 로고
    • Adams,J.H.,Corselli,J.A.N. and Duchen,L.W. (eds), Edward Arnold, London
    • Oppenheimer,D.R. and Esiri,M.M. (1992) In Adams,J.H.,Corselli,J.A.N. and Duchen,L.W. (eds), Greenfield's Neuropathology. Edward Arnold, London, pp. 1015-1018.
    • (1992) Greenfield's Neuropathology , pp. 1015-1018
    • Oppenheimer, D.R.1    Esiri, M.M.2
  • 8
    • 0030904035 scopus 로고    scopus 로고
    • Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates
    • Lamont,PJ., Davis,MB. and Wood,NW. (1997) Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates. Brain, 120, 673-680.
    • (1997) Brain , vol.120 , pp. 673-680
    • Lamont, P.J.1    Davis, M.B.2    Wood, N.W.3
  • 11
    • 0030813487 scopus 로고    scopus 로고
    • Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
    • Koutnikova,H., Campuzano,V., Foury,F., Dollé,P, Cazzalini,O. and Koenig,M. (1997) Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nature Genet., 16, 345-351.
    • (1997) Nature Genet. , vol.16 , pp. 345-351
    • Koutnikova, H.1    Campuzano, V.2    Foury, F.3    Dollé, P.4    Cazzalini, O.5    Koenig, M.6
  • 12
    • 0030296878 scopus 로고    scopus 로고
    • Friedreich's ataxia protein: Bacterial homologs point to mitochondrial dysfunction
    • Gibson,T.J., Koonin,E.V, Musco,G., Pastore,A. and Bork,P. (1996) Friedreich's ataxia protein: bacterial homologs point to mitochondrial dysfunction. Trends Neurosci., 19, 465-468.
    • (1996) Trends Neurosci. , vol.19 , pp. 465-468
    • Gibson, T.J.1    Koonin, E.V.2    Musco, G.3    Pastore, A.4    Bork, P.5
  • 13
    • 0021913292 scopus 로고
    • Assembly of the mitochondrial membrane system. CBP6, a yeast nuclear gene necessary for synthesis of cytochrome b
    • Dieckmann,C.L. and Tzagoloff,A. (1985) Assembly of the mitochondrial membrane system. CBP6, a yeast nuclear gene necessary for synthesis of cytochrome b. J. Biol. Chem., 260, 1513-1520.
    • (1985) J. Biol. Chem. , vol.260 , pp. 1513-1520
    • Dieckmann, C.L.1    Tzagoloff, A.2
  • 15
    • 0029979607 scopus 로고    scopus 로고
    • Common principles of protein translocation across membranes
    • Schatz,G. and Dobberstein,B. (1996) Common principles of protein translocation across membranes. Science, 271, 1519-1526.
    • (1996) Science , vol.271 , pp. 1519-1526
    • Schatz, G.1    Dobberstein, B.2
  • 18
    • 0031567601 scopus 로고    scopus 로고
    • Deletion of the yeast homologue of the human gene associated with Friedeich's ataxia elicits iron accumulation in mitochondria
    • in press
    • Foury,F. and Cazzalini,O. (1997) Deletion of the yeast homologue of the human gene associated with Friedeich's ataxia elicits iron accumulation in mitochondria. FEBS Lett., in press.
    • (1997) FEBS Lett.
    • Foury, F.1    Cazzalini, O.2
  • 20
    • 0022669137 scopus 로고
    • Mitochondrial dysfunction and spinocerebellar degenerations
    • Cedarbaum,J.M. and Blass,J.P. (1986) Mitochondrial dysfunction and spinocerebellar degenerations. Neurochem. Pathol., 4, 43-63.
    • (1986) Neurochem. Pathol. , vol.4 , pp. 43-63
    • Cedarbaum, J.M.1    Blass, J.P.2
  • 21
    • 0019138065 scopus 로고
    • Leucocyte glutamate dehydrogenase in various hereditary ataxias
    • Barbeau,A., Charbonneau,M. and Cloutier,T. (1980) Leucocyte glutamate dehydrogenase in various hereditary ataxias. Can. J. Neurol. Sci., 7, 421-424.
    • (1980) Can. J. Neurol. Sci. , vol.7 , pp. 421-424
    • Barbeau, A.1    Charbonneau, M.2    Cloutier, T.3
  • 22
    • 0020061808 scopus 로고
    • Friedreich ataxia: III. Mitochondrial malic enzyme deficiency
    • Stumpf,D.A., Parks,J.K., Eguren,L.A. and Haas,R. (1982) Friedreich ataxia: III. Mitochondrial malic enzyme deficiency. Neurology, 32, 221-227.
    • (1982) Neurology , vol.32 , pp. 221-227
    • Stumpf, D.A.1    Parks, J.K.2    Eguren, L.A.3    Haas, R.4
  • 24
    • 0018885541 scopus 로고
    • Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): Disease entity or a syndrome? Light- and electron-microscopic studies of two cases and review of literature
    • Fukuhara,N., Tokiguchi,S., Shirakawa,K. and Tsubaki,T. (1980) Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): disease entity or a syndrome? Light- and electron-microscopic studies of two cases and review of literature. J. Neurol Sci., 47, 117-133.
    • (1980) J. Neurol Sci. , vol.47 , pp. 117-133
    • Fukuhara, N.1    Tokiguchi, S.2    Shirakawa, K.3    Tsubaki, T.4
  • 25
    • 0025267548 scopus 로고
    • A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
    • Holt,I.J., Harding,A.E., Petty,R.K.H. and Morgan-Hughes,A. (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am. J. Hum. Genet., 46, 428-433.
    • (1990) Am. J. Hum. Genet. , vol.46 , pp. 428-433
    • Holt, I.J.1    Harding, A.E.2    Petty, R.K.H.3    Morgan-Hughes, A.4
  • 26
  • 29
    • 0019157337 scopus 로고
    • Subcellular localization of alpha-tocopherol and its effect on RNA synthesis in perfused rabbit heart
    • Guarnieri,C., Flamigni,F. and Caldarera,C.R. (1980) Subcellular localization of alpha-tocopherol and its effect on RNA synthesis in perfused rabbit heart. Ital. J. Biochem., 29, 176-184.
    • (1980) Ital. J. Biochem. , vol.29 , pp. 176-184
    • Guarnieri, C.1    Flamigni, F.2    Caldarera, C.R.3
  • 30
    • 0023947327 scopus 로고
    • Evidence for mitochondrial DNA damage by lipid peroxidation
    • Hruszkewycz,A.M. (1988) Evidence for mitochondrial DNA damage by lipid peroxidation. Biochem. Biophys. Res. Commun., 153, 191-197.
    • (1988) Biochem. Biophys. Res. Commun. , vol.153 , pp. 191-197
    • Hruszkewycz, A.M.1
  • 31
    • 0023623620 scopus 로고
    • Steady-state kinetic approaches to complex biological systems
    • Naqui,A. and Chance,B. (1987) Steady-state kinetic approaches to complex biological systems. Cell Biophys., 11, 159-176.
    • (1987) Cell Biophys. , vol.11 , pp. 159-176
    • Naqui, A.1    Chance, B.2
  • 32
    • 0022495724 scopus 로고
    • The mitochondrial site of Superoxide formation
    • Nohl,H. and Jordan,W. (1986) The mitochondrial site of Superoxide formation. Biochem. Biophys. Res. Commun., 138, 533-539.
    • (1986) Biochem. Biophys. Res. Commun. , vol.138 , pp. 533-539
    • Nohl, H.1    Jordan, W.2
  • 33
    • 0027937548 scopus 로고
    • Oxidative stress: Free radical production in neural degeneration
    • Gotz,M.E., Kunig,G., Riederer,P. and Youdim,M.B. (1994) Oxidative stress: free radical production in neural degeneration. Pharmacol. Ther., 63, 37-122.
    • (1994) Pharmacol. Ther. , vol.63 , pp. 37-122
    • Gotz, M.E.1    Kunig, G.2    Riederer, P.3    Youdim, M.B.4
  • 34
    • 0029451665 scopus 로고
    • Metabolic disorders and neurotoxicology
    • Beal,M.F. (1995) Metabolic disorders and neurotoxicology [editorial]. Curr. Opin. Neurol., 8, 467-468.
    • (1995) Curr. Opin. Neurol. , vol.8 , pp. 467-468
    • Beal, M.F.1
  • 35
    • 0027176361 scopus 로고
    • The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
    • Devys,D., Lutz,Y., Rouyer,N., Bellocq,J.P. and Mandel,J.L. (1993) The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nature Genet., 4, 335-340.
    • (1993) Nature Genet. , vol.4 , pp. 335-340
    • Devys, D.1    Lutz, Y.2    Rouyer, N.3    Bellocq, J.P.4    Mandel, J.L.5
  • 36
    • 0030600135 scopus 로고    scopus 로고
    • Green fluorescent protein: Applications in cell biology
    • Gerdes,H.H. and Kaether,C. (1996) Green fluorescent protein: applications in cell biology. FEBS Lett., 389, 44-47.
    • (1996) FEBS Lett. , vol.389 , pp. 44-47
    • Gerdes, H.H.1    Kaether, C.2
  • 38
    • 0003448569 scopus 로고
    • Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
    • Harlow,E. and Lane,D. (1988) Antibodies: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
    • (1988) Antibodies: A Laboratory Manual
    • Harlow, E.1    Lane, D.2
  • 39
    • 0023614188 scopus 로고
    • Dystrophin: The protein product of the Duchenne muscular dystrophy locus
    • Hoffman,E.P., Brown,R.H.,Jr and Kunkel,L.M. (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell, 51, 919-928.
    • (1987) Cell , vol.51 , pp. 919-928
    • Hoffman, E.P.1    Brown Jr., R.H.2    Kunkel, L.M.3
  • 40
    • 0027491410 scopus 로고
    • bFGF regulates the proliferative fate of unipotent (neuronal) and bipotent (neuronal/ astroglial) EGF-generated CNS progenitor cells
    • Vescovi,A.L., Reynolds,B.A., Fraser,D.D. and Weiss,S. (1993) bFGF regulates the proliferative fate of unipotent (neuronal) and bipotent (neuronal/ astroglial) EGF-generated CNS progenitor cells. Neuron, 11, 951-966.
    • (1993) Neuron , vol.11 , pp. 951-966
    • Vescovi, A.L.1    Reynolds, B.A.2    Fraser, D.D.3    Weiss, S.4
  • 41
    • 0023895357 scopus 로고
    • A small-scale procedure for preparation of nuclear extracts that support efficient transcription and pre-mRNA splicing
    • Lee,K.A., Bindereif,A. and Green,M.R. (1988) A small-scale procedure for preparation of nuclear extracts that support efficient transcription and pre-mRNA splicing. Gene Anal. Techniques, 5, 22-31.
    • (1988) Gene Anal. Techniques , vol.5 , pp. 22-31
    • Lee, K.A.1    Bindereif, A.2    Green, M.R.3
  • 42
    • 0017184389 scopus 로고
    • A rapid sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
    • Bradford,M.M. (1976) A rapid sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal. Biochem. 72, 248-254.
    • (1976) Anal. Biochem. , vol.72 , pp. 248-254
    • Bradford, M.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.