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Volumn 32, Issue 2, 2011, Pages 327-330

Variations of frataxin protein levels in normal individuals

Author keywords

Allele; Frataxin; Friedreich's ataxia; GAA repeats

Indexed keywords

ADENINE; FRATAXIN; GUANINE;

EID: 79952902246     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10072-010-0326-1     Document Type: Article
Times cited : (13)

References (20)
  • 2
    • 0019782799 scopus 로고
    • Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
    • AE Harding 1981 Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and interfamilial clustering of clinical features Brain 104 589 620 7272714 10.1093/brain/104.3. 589 1:STN:280:DyaL38%2FgtFeqsg%3D%3D (Pubitemid 12202197)
    • (1981) Brain , vol.104 , Issue.3 , pp. 589-620
    • Harding, A.E.1
  • 5
    • 84882482724 scopus 로고    scopus 로고
    • Friedreich's ataxia
    • Wells RD, Ashizawa T (eds) 2nd edn. Elsevier-Academic Press, San Diego
    • Pandolfo M (2006) Friedreich's ataxia. In: Wells RD, Ashizawa T (eds) Genetic instabilities and neurological diseases, 2nd edn. Elsevier-Academic Press, San Diego, pp 277-296
    • (2006) Genetic Instabilities and Neurological Diseases , pp. 277-296
    • Pandolfo, M.1
  • 7
    • 22244446185 scopus 로고    scopus 로고
    • Advances in mechanisms of genetic instability related to hereditary neurological diseases
    • DOI 10.1093/nar/gki697
    • RD Wells R Dere ML Hebert M Napierala LS Son 2005 Advances in mechanisms of genetic instability related to hereditary neurological diseases Nucleic Acids Res 33 3785 3798 16006624 10.1093/nar/gki697 1:CAS:528:DC%2BD2MXmsV2hsLc%3D (Pubitemid 41418548)
    • (2005) Nucleic Acids Research , vol.33 , Issue.12 , pp. 3785-3798
    • Wells, R.D.1    Dere, R.2    Hebert, M.L.3    Napierala, M.4    Son, L.S.5
  • 8
    • 0642287902 scopus 로고    scopus 로고
    • Iron metabolism and mitochondrial abnormalities in Friedreich ataxia
    • 12547248 10.1006/bcmd.2002.0591 1:CAS:528:DC%2BD3sXlt1yqsw%3D%3D
    • M Pandolfo 2002 Iron metabolism and mitochondrial abnormalities in Friedreich ataxia Blood Cells Mol Dis 29 536 547 12547248 10.1006/bcmd.2002.0591 1:CAS:528:DC%2BD3sXlt1yqsw%3D%3D
    • (2002) Blood Cells Mol Dis , vol.29 , pp. 536-547
    • Pandolfo, M.1
  • 9
    • 77952480112 scopus 로고    scopus 로고
    • Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin
    • 20053667 10.1093/hmg/ddp592
    • I Condò F Malisan I Guccini D Serio A Rufini R Testi 2010 Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin Hum Mol Genet 19 7 1221 1229 20053667 10.1093/hmg/ddp592
    • (2010) Hum Mol Genet , vol.19 , Issue.7 , pp. 1221-1229
    • Condò, I.1    Malisan, F.2    Guccini, I.3    Serio, D.4    Rufini, A.5    Testi, R.6
  • 10
    • 33845693952 scopus 로고    scopus 로고
    • Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts
    • DOI 10.1016/j.abb.2006.09.010, PII S000398610600347X
    • C Lu G Cortopassi 2007 Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts Arch Biochem Biophys 457 1 111 122 17098208 10.1016/j.abb.2006.09. 010 1:CAS:528:DC%2BD2sXpvVal (Pubitemid 44969278)
    • (2007) Archives of Biochemistry and Biophysics , vol.457 , Issue.1 , pp. 111-122
    • Lu, C.1    Cortopassi, G.2
  • 12
    • 14944387002 scopus 로고    scopus 로고
    • Iron trafficking in the mitochondrion: Novel pathways revealed by disease
    • DOI 10.1182/blood-2004-10-3856
    • I Napier P Ponka DR Richardson 2005 Iron trafficking in the mitochondrion: novel pathways revealed by disease Blood 105 1867 1874 15528311 10.1182/blood-2004-10-3856 1:CAS:528:DC%2BD2MXitVOns74%3D (Pubitemid 40731766)
    • (2005) Blood , vol.105 , Issue.5 , pp. 1867-1874
    • Napier, I.1    Ponka, P.2    Richardson, D.R.3
  • 13
    • 0742304137 scopus 로고    scopus 로고
    • Expanded GAA repeats and clinical variation in Friedreich's ataxia
    • DOI 10.1034/j.1600-0404.2003.00190.x
    • I Mateo J Llorca V Volpini J Corral J Berciano O Combarros 2004 Expanded GAA repeats and clinical variation in Friedreich's ataxia Acta Neurol Scand 109 75 78 14653855 10.1034/j.1600-0404.2003.00190.x 1:CAS:528:DC%2BD2cXhslaqtrc%3D (Pubitemid 38161131)
    • (2004) Acta Neurologica Scandinavica , vol.109 , Issue.1 , pp. 75-78
    • Mateo, I.1    Llorca, J.2    Volpini, V.3    Corral, J.4    Berciano, J.5    Combarros, O.6
  • 15
    • 3042763187 scopus 로고    scopus 로고
    • Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity
    • DOI 10.1126/science.1098991
    • AL Bulteau HA ÓNeill MC Kennedy M Ikeda-Saito G Isaya LI Szweda 2004 Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity Science 305 242 245 15247478 10.1126/science.1098991 1:CAS:528:DC%2BD2cXlsV2gsbs%3D (Pubitemid 38886737)
    • (2004) Science , vol.305 , Issue.5681 , pp. 242-245
    • Bulteau, A.-L.1    O'Neill, H.A.2    Kennedy, M.C.3    Ikeda-Saito, M.4    Isaya, G.5    Szweda, L.I.6
  • 16
    • 67949124861 scopus 로고    scopus 로고
    • PPAR-gamma agonist Azelaoyl PAF increases frataxin protein and mRNA expression: New implications for the Friedreich's ataxia therapy
    • 19104905 10.1007/s12311-008-0087-z 1:CAS:528:DC%2BD1MXntVGktL0%3D
    • D Marmolino F Acquaviva M Pinelli A Monticelli I Castaldo A Filla S Cocozza 2009 PPAR-gamma agonist Azelaoyl PAF increases frataxin protein and mRNA expression: new implications for the Friedreich's ataxia therapy Cerebellum 8 2 98 103 19104905 10.1007/s12311-008-0087-z 1:CAS:528:DC%2BD1MXntVGktL0%3D
    • (2009) Cerebellum , vol.8 , Issue.2 , pp. 98-103
    • Marmolino, D.1    Acquaviva, F.2    Pinelli, M.3    Monticelli, A.4    Castaldo, I.5    Filla, A.6    Cocozza, S.7
  • 19
    • 0034720861 scopus 로고    scopus 로고
    • Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion
    • M Labuda D Labuda C Miranda J Poirier BW Soong NE Barucha M Pandolfo 2000 Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion Neurology 54 2322 2324 10881262 1:CAS:528:DC%2BD3cXltFSmsLk%3D (Pubitemid 30416287)
    • (2000) Neurology , vol.54 , Issue.12 , pp. 2322-2324
    • Labuda, M.1    Labuda, D.2    Miranda, C.3    Poirier, J.4    Soong, B.-W.5    Barucha, N.E.6    Pandolfo, M.7
  • 20
    • 0036461155 scopus 로고    scopus 로고
    • Dissecting the epidemiology of a trinucleotide repeat disease - Example of FRDA in Finland
    • DOI 10.1007/s00439-001-0642-x
    • V Juvonen SM Kulmala J Ignatius M Penttinen ML Sacontaus 2002 Dissecting the epidemiology of a trinucleotide repeat disease-example of FRDA in Finland Hum Genet 110 36 40 11810294 10.1007/s00439-001-0642-x 1:CAS:528: DC%2BD38XjsValtA%3D%3D (Pubitemid 36067415)
    • (2002) Human Genetics , vol.110 , Issue.1 , pp. 36-40
    • Juvonen, V.1    Kulmala, S.-M.2    Ignatius, J.3    Penttinen, M.4    Savontaus, M.-L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.