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Volumn 27, Issue 2, 2001, Pages 181-186

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

Author keywords

[No Author keywords available]

Indexed keywords

FRATAXIN; IRON SULFUR PROTEIN;

EID: 0035138072     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/84818     Document Type: Article
Times cited : (635)

References (26)
  • 1
    • 0029821176 scopus 로고    scopus 로고
    • Clinical and genetic abnormalities in patients with Friedreich's ataxia
    • (1996) N. Engl. J. Med. , vol.335 , pp. 1169-1175
    • Durr, A.1
  • 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
    • (1981) Brain , vol.104 , pp. 589-520
    • Harding, A.E.1
  • 3
    • 9844222853 scopus 로고    scopus 로고
    • Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1771-1780
    • Campuzano, V.1
  • 4
    • 0030846021 scopus 로고    scopus 로고
    • Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
    • (1997) Science , vol.276 , pp. 1709-1712
    • Babcock, M.1
  • 5
    • 0031567601 scopus 로고    scopus 로고
    • Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria
    • (1997) FEBS Lett. , vol.411 , pp. 373-377
    • Foury, E.1    Cazzalini, O.2
  • 6
    • 0031253821 scopus 로고    scopus 로고
    • Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
    • (1997) Nature Genet. , vol.17 , pp. 215-217
    • Rotig, A.1
  • 8
    • 0034192352 scopus 로고    scopus 로고
    • Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1219-1226
    • Cossee, M.1
  • 9
    • 0032924872 scopus 로고    scopus 로고
    • Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression
    • (1999) Nature Genet. , vol.21 , pp. 133-137
    • Wang, J.1
  • 10
    • 0034701295 scopus 로고    scopus 로고
    • Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 849-858
    • Frugier, T.1
  • 11
    • 0025128972 scopus 로고
    • Impaired mitochondrial β-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria
    • (1990) J. Clin. Invest. , vol.85 , pp. 177-184
    • Watmough, N.J.1
  • 13
    • 0033838364 scopus 로고    scopus 로고
    • Iron-dependent self-assembly of recombinant yeast frataxin: Implications for Friedreich ataxia
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 549-562
    • Adamec, J.1
  • 14
    • 0034661480 scopus 로고    scopus 로고
    • Towards a structural understanding of Friedreich's ataxia: The solution structure of frataxin
    • (2000) Structure Fold Des. , vol.8 , pp. 695-707
    • Musco, G.1
  • 16
    • 0032800601 scopus 로고    scopus 로고
    • Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain
    • (1999) FEBS Lett. , vol.456 , pp. 281-284
    • Foury, P.1
  • 17
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • (1996) Science , vol.271 , pp. 1423-1427
    • Campuzano, V.1
  • 18
    • 0030813487 scopus 로고    scopus 로고
    • Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
    • (1997) Nature Genet. , vol.16 , pp. 345-351
    • Koutnikova, H.1
  • 20
    • 0001486362 scopus 로고    scopus 로고
    • Methods in Developmental Toxicology and Biology (ed. Klug, S.a.T.) (Blackwekk Science, Oxford)
    • (1997) , pp. 111-123
    • Dierich, A.1    Dollé, P.2
  • 22
    • 0027931039 scopus 로고
    • Biochemical and molecular investigations in respiratory chain deficiencies
    • (1994) Clin. Chim. Acta , vol.228 , pp. 35-51
    • Rustin, R.1
  • 23
    • 0031040738 scopus 로고    scopus 로고
    • In vivo functional analysis of the Hoxa-1 3′ retinoic acid response element (3′RARE)
    • (1997) Development , vol.124 , pp. 399-410
    • Dupe, V.1
  • 26
    • 0005948797 scopus 로고    scopus 로고
    • Friedreich ataxia and AVED
    • The Metabolic and Molecular Basis of Inherited Disease (eds. Scriver, C, Beaudet, A, Sly, W, & Valle, D.) (MacGraw-Hill, New York)
    • (2001) , pp. 5845-5855
    • Koenig, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.