Ataxie de Friedreich et mitochondrie : Le puzzle reconstitué

Archives de Pediatrie

Volumn 6, Issue SUPPL.2, 1999, Pages 498-499

  Rotig A ^a   Munnich, A ^a   Rustin, P ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FRATAXIN; IRON; IRON BINDING PROTEIN; PHOSPHOTRANSFERASE;

CONFERENCE PAPER; FRIEDREICH ATAXIA; GENETICS; HUMAN; METABOLISM; MITOCHONDRION;

FRIEDREICH ATAXIA; HUMANS; IRON; IRON-BINDING PROTEINS; MITOCHONDRIA; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 0032605002     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0929-693x(99)80517-x     Document Type: Conference Paper

References (8)

1. Campuzano V, Montermini L, Molto MD. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996 ; 271 : 1423-7.
2. Gibson TJ, Koonin EV, Musco G, Pastore A, Bork P. Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction. TINS 1996 ; 19 : 465-8.
3. Koutnitkova H, Foury F, Dollé P, Cazzalini O, Koenig M. Studies of mouse and yeast homologues indicate a mitochondrial function for the Friedreich's ataxia gene. Nature Genet 1997 ; 16 : 345-51.
4. Foury F, Cazzalini O. Deletion of the yeast homologue of the human gene associated with Friedreich' s ataxia elicits iron accumulation in mitochondria. FEBS Lett 1997 ; 411 : 373-7.
5. Babcock M, de Silva D, Oaks R, Davis-Kaplan S, Jiralerspong S, Montermini L, et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 1997 ; 276 : 1709-12.
6. Rustin P, Le Bidois J, Chretien D, Bourgeron T, Piéchaud JF, Rötig A, et al. Endomyocardial biopsy for early detection of mitochondrial disorders in hypertrophie cardiomyopathies. J Pediatr 1994 ; 124 : 224-8.
7. Rötig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D, et al. Aconitase and mitochondrial iron-sulfur protein deficiency in Friedreich ataxia. Nature Genet 1997 ; 17 : 215-7.
8. Kaptain S, Downey WE, Tang C, Philpott C, Haile D, Orloff DG. A regulated RNA binding protein also possesses aconitase activity. Proc Natl Acad Sci USA 1991 ; 88 : 10109-13.