Friedreich's ataxia is a mitochondrial disorder

被引:35
作者
Kaplan, J [1 ]
机构
[1] Univ Utah, Sch Med, Dept Pathol, Salt Lake City, UT 84132 USA
关键词
D O I
10.1073/pnas.96.20.10948
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
引用
收藏
页码:10948 / 10949
页数:2
相关论文
共 24 条
[1]   Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin [J].
Babcock, M ;
deSilva, D ;
Oaks, R ;
DavisKaplan, S ;
Jiralerspong, S ;
Montermini, L ;
Pandolfo, M ;
Kaplan, J .
SCIENCE, 1997, 276 (5319) :1709-1712
[2]   Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion [J].
Campuzano, V ;
Montermini, L ;
Molto, MD ;
Pianese, L ;
Cossee, M ;
Cavalcanti, F ;
Monros, E ;
Rodius, F ;
Duclos, F ;
Monticelli, A ;
Zara, F ;
Canizares, J ;
Koutnikova, H ;
Bidichandani, SI ;
Gellera, C ;
Brice, A ;
Trouillas, P ;
DeMichele, G ;
Filla, A ;
DeFrutos, R ;
Palau, F ;
Patel, PI ;
DiDonato, S ;
Mandel, JL ;
Cocozza, S ;
Koenig, M ;
Pandolfo, M .
SCIENCE, 1996, 271 (5254) :1423-1427
[3]   Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes [J].
Campuzano, V ;
Montermini, L ;
Lutz, Y ;
Cova, L ;
Hindelang, C ;
Jiralerspong, S ;
Trottier, Y ;
Kish, SJ ;
Faucheux, B ;
Trouillas, P ;
Authier, FJ ;
Durr, A ;
Mandel, JL ;
Vescovi, A ;
Pandolfo, M ;
Koenig, M .
HUMAN MOLECULAR GENETICS, 1997, 6 (11) :1771-1780
[4]  
Cossée M, 1999, ANN NEUROL, V45, P200, DOI 10.1002/1531-8249(199902)45:2<200::AID-ANA10>3.0.CO
[5]  
2-U
[6]  
Delatycki MB, 1999, ANN NEUROL, V45, P673, DOI 10.1002/1531-8249(199905)45:5<673::AID-ANA20>3.0.CO
[7]  
2-Q
[8]   Mitochondrial disease in mouse results in increased oxidative stress [J].
Esposito, LA ;
Melov, S ;
Panov, A ;
Cottrell, BA ;
Wallace, DC .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (09) :4820-4825
[9]  
Filla A, 1996, AM J HUM GENET, V59, P554
[10]   Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria [J].
Foury, F ;
Cazzalini, O .
FEBS LETTERS, 1997, 411 (2-3) :373-377