메뉴 건너뛰기




Volumn 178, Issue , 2007, Pages 365-375

Conditional mouse models for friedreich ataxia, a neurodegenerative disorder associating cardiomyopathy

Author keywords

Ataxia; Cardiomyopathy; Frataxin; Iron; Iron sulfur cluster; Mitochondria; Neurodegeneration

Indexed keywords

ANIMAL; AUTOPHAGY; CARDIOMYOPATHY; DISEASE MODEL; FRIEDREICH ATAXIA; HUMAN; MITOCHONDRION; MOUSE; PATHOLOGY; REVIEW; ULTRASTRUCTURE;

EID: 33846939794     PISSN: 01712004     EISSN: 18650325     Source Type: Book Series    
DOI: 10.1007/978-3-540-35109-2_15     Document Type: Article
Times cited : (17)

References (34)
  • 2
    • 0036710928 scopus 로고    scopus 로고
    • Lipofuscin: Mechanisms of age-related accumulation and influence on cell function
    • Brunk UT, Terman A (2002) Lipofuscin: mechanisms of age-related accumulation and influence on cell function. Free Radic Biol Med 33:611-619
    • (2002) Free Radic Biol Med , vol.33 , pp. 611-619
    • Brunk, U.T.1    Terman, A.2
  • 8
    • 0141623560 scopus 로고    scopus 로고
    • An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1
    • Gerber J, Muhlenhoff U, Lill R (2003) An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1. EMBO Rep 4:906-911
    • (2003) EMBO Rep , vol.4 , pp. 906-911
    • Gerber, J.1    Muhlenhoff, U.2    Lill, R.3
  • 10
    • 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
    • Harding AE (1981) Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104:589-620
    • (1981) Brain , vol.104 , pp. 589-620
    • Harding, A.E.1
  • 11
    • 0035504444 scopus 로고    scopus 로고
    • The phylogenetic distribution of frataxin indicates a role in iron-sulfur cluster protein assembly
    • Huynen MA, Snel B, Bork P, Gibson TJ (2001) The phylogenetic distribution of frataxin indicates a role in iron-sulfur cluster protein assembly. Hum Mol Genet 10:2463-2468
    • (2001) Hum Mol Genet , vol.10 , pp. 2463-2468
    • Huynen, M.A.1    Snel, B.2    Bork, P.3    Gibson, T.J.4
  • 12
    • 0019169563 scopus 로고
    • The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases
    • Lamarche JB, Cote M, Lemieux B (1980) The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases. Can J Neurol Sci 7:389-396
    • (1980) Can J Neurol Sci , vol.7 , pp. 389-396
    • Lamarche, J.B.1    Cote, M.2    Lemieux, B.3
  • 13
    • 0019954153 scopus 로고
    • Ultrastructural observations on spinal ganglion biopsy in Friedreich's ataxia: A preliminary report
    • Lamarche J, Luneau C, Lemieux B (1982) Ultrastructural observations on spinal ganglion biopsy in Friedreich's ataxia: a preliminary report. Can J Neurol Sci 9:137-139
    • (1982) Can J Neurol Sci , vol.9 , pp. 137-139
    • Lamarche, J.1    Luneau, C.2    Lemieux, B.3
  • 17
    • 0031885039 scopus 로고    scopus 로고
    • Antioxidant properties of 2,3-dimethoxy-5-methyl-6-(10-hydroxydecyl)-1,4- benzoquinone (idebenone)
    • Mordente A, Martorana GE, Minotti G, Giardina B (1998) Antioxidant properties of 2,3-dimethoxy-5-methyl-6-(10-hydroxydecyl)-1,4-benzoquinone (idebenone) Chem Res Toxicol 11:54-63
    • (1998) Chem Res Toxicol , vol.11 , pp. 54-63
    • Mordente, A.1    Martorana, G.E.2    Minotti, G.3    Giardina, B.4
  • 18
    • 0037101845 scopus 로고    scopus 로고
    • The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins
    • Muhlenhoff U, Richhardt N, Ristow M, Kispal G, Lill R (2002) The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins. Hum Mol Genet 11:2025-2036
    • (2002) Hum Mol Genet , vol.11 , pp. 2025-2036
    • Muhlenhoff, U.1    Richhardt, N.2    Ristow, M.3    Kispal, G.4    Lill, R.5
  • 19
    • 0032145086 scopus 로고    scopus 로고
    • Molecular genetics and pathogenesis of Friedreich ataxia
    • PandolfoM (1998) Molecular genetics and pathogenesis of Friedreich ataxia. Neuromuscul Disord 8:409-415
    • (1998) Neuromuscul Disord , vol.8 , pp. 409-415
    • Pandolfo, M.1
  • 20
    • 0035138072 scopus 로고    scopus 로고
    • Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
    • Puccio H, Simon D, Cossee M, Criqui-Filipe P, Tiziano F, Melki J, Hindelang C, Matyas R, Rustin P, Koenig M (2001) Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet 27:181-186
    • (2001) Nat Genet , vol.27 , pp. 181-186
    • Puccio, H.1    Simon, D.2    Cossee, M.3    Criqui-Filipe, P.4    Tiziano, F.5    Melki, J.6    Hindelang, C.7    Matyas, R.8    Rustin, P.9    Koenig, M.10
  • 21
  • 24
    • 0037398112 scopus 로고    scopus 로고
    • The use of antioxidants in Friedreich's ataxia treatment
    • Rustin P (2003) The use of antioxidants in Friedreich's ataxia treatment. ExpertOpin Investig Drugs 12:569-575
    • (2003) ExpertOpin Investig Drugs , vol.12 , pp. 569-575
    • Rustin, P.1
  • 25
    • 0035445849 scopus 로고    scopus 로고
    • Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm
    • Santos MM, Ohshima K, PandolfoM (2001) Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm. Hum Mol Genet 10:1935-1944
    • (2001) Hum Mol Genet , vol.10 , pp. 1935-1944
    • Santos, M.M.1    Ohshima, K.2    Pandolfo, M.3
  • 26
    • 2542556601 scopus 로고    scopus 로고
    • Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia
    • Seznec H, SimonD,Monassier L, Criqui-FilipeP,GansmullerA,RustinP,KoenigM, PuccioH (2004) Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia. Hum Mol Genet 13:1017-1024
    • (2004) Hum Mol Genet , vol.13 , pp. 1017-1024
    • Seznec, H.1    Simon, D.2    Monassier, L.3    Criqui-Filipe, P.4    Gansmuller, A.5    Rustin, P.6    Koenig, M.7    Puccio, H.8
  • 28
    • 1442324707 scopus 로고    scopus 로고
    • Friedreich ataxiamousemodelswith progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia
    • Simon D, Seznec H, Gansmuller A, Carelle N, Weber P, Metzger D, Rustin P, Koenig M, PuccioH (2004) Friedreich ataxiamousemodelswith progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia. J Neurosci 24:1987-1995
    • (2004) J Neurosci , vol.24 , pp. 1987-1995
    • Simon, D.1    Seznec, H.2    Gansmuller, A.3    Carelle, N.4    Weber, P.5    Metzger, D.6    Rustin, P.7    Koenig, M.8    Puccio, H.9
  • 29
    • 0035783417 scopus 로고    scopus 로고
    • Temporally controlled targeted somaticmutagenesis in the mouse brain
    • Weber P,MetzgerD,Chambon P (2001) Temporally controlled targeted somaticmutagenesis in the mouse brain. Eur J Neurosci 14:1777-1783
    • (2001) Eur J Neurosci , vol.14 , pp. 1777-1783
    • Weber, P.1    Metzger, D.2    Chambon, P.3
  • 30
    • 0030825723 scopus 로고    scopus 로고
    • Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue
    • Wilson RB, Roof DM (1997) Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat Genet 16:352-357
    • (1997) Nat Genet , vol.16 , pp. 352-357
    • Wilson, R.B.1    Roof, D.M.2
  • 31
    • 0033054177 scopus 로고    scopus 로고
    • The Friedreich's ataxiamutation confers cellular sensitivity to oxidant stresswhich is rescued by chelators of iron and calcium and inhibitors of apoptosis
    • Wong A, Yang J, Cavadini P, Gellera C, Lonnerdal B, Taroni F, Cortopassi G (1999) The Friedreich's ataxiamutation confers cellular sensitivity to oxidant stresswhich is rescued by chelators of iron and calcium and inhibitors of apoptosis. Hum Mol Genet 8:425-430
    • (1999) Hum Mol Genet , vol.8 , pp. 425-430
    • Wong, A.1    Yang, J.2    Cavadini, P.3    Gellera, C.4    Lonnerdal, B.5    Taroni, F.6    Cortopassi, G.7
  • 32
    • 0032870475 scopus 로고    scopus 로고
    • Autophagy is activated by apoptotic signalling in sympathetic neurons: An alternative mechanism of death execution
    • Xue L, Fletcher GC, Tolkovsky AM (1999) Autophagy is activated by apoptotic signalling in sympathetic neurons: an alternative mechanism of death execution. Mol Cell Neurosci 14:180-198
    • (1999) Mol Cell Neurosci , vol.14 , pp. 180-198
    • Xue, L.1    Fletcher, G.C.2    Tolkovsky, A.M.3
  • 34
    • 84882547206 scopus 로고    scopus 로고
    • Frataxin-mediated iron delivery to Ferrochelatase in the final step of Heme biosynthesis
    • Yoon T, Cowan JA (2004) Frataxin-mediated iron delivery to Ferrochelatase in the final step of Heme biosynthesis. J Biol Chem 27:27
    • (2004) J Biol Chem , vol.27 , pp. 27
    • Yoon, T.1    Cowan, J.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.