Molecular basis of Friedreich ataxia

被引：35

作者：

Pandolfo, M

机构：

[1] Univ Montreal, Dept Med, Montreal, PQ H3C 3J7, Canada

[2] McGill Univ, CHU Montreal, Hop Notre Dame, Dept Neurol & Neurosurg, Montreal, PQ, Canada

来源：

MOVEMENT DISORDERS | 2001年 / 16卷 / 05期

关键词：

D O I：

10.1002/mds.1162

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：815 / 821

页数：7

共 65 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 ATAXIA PHENOTYPE NOT LINKED TO CHROMOSOME-9 AND ASSOCIATED WITH SELECTIVE AUTOSOMAL RECESSIVE VITAMIN-E-DEFICIENCY IN 2 INBRED TUNISIAN FAMILIES [J].

BENHAMIDA, M ;

BELAL, S ;

SIRUGO, G ;

BENHAMIDA, C ;

PANAYIDES, K ;

IONANNOU, P ;

BECKMANN, J ;

MANDEL, JL ;

HENTATI, F ;

KOENIG, M ;

MIDDLETON, L .

NEUROLOGY, 1993, 43 (11) :2179-2183

[3]

Bidichandani SI, 1997, AM J HUM GENET, V60, P1251

[4] Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase [J].

Branda, SS ;

Cavadini, P ;

Adamec, J ;

Kalousek, F ;

Taroni, F ;

Isaya, G .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (32) :22763-22769

[5] 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

[6] 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

[7] MAPPING OF MUTATION CAUSING FRIEDREICHS ATAXIA TO HUMAN CHROMOSOME-9 [J].

CHAMBERLAIN, S ;

SHAW, J ;

ROWLAND, A ;

WALLIS, J ;

SOUTH, S ;

NAKAMURA, Y ;

VONGABAIN, A ;

FARRALL, M ;

WILLIAMSON, R .

NATURE, 1988, 334 (6179) :248-250

[8] Crystal structure of Escherichia coli CyaY protein reveals a previously unidentified fold for the evolutionarily conserved frataxin family [J].

Cho, SJ ;

Lee, MG ;

Yang, JK ;

Lee, JY ;

Song, HK ;

Suh, SW .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (16) :8932-8937

[9] Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutations [J].

Cossee, M ;

Schmitt, M ;

Campuzano, V ;

Reutenauer, L ;

Moutou, C ;

Mandel, JL ;

Koenig, M .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (14) :7452-7457

[10] Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation [J].

Cossée, M ;

Puccio, H ;

Gansmuller, A ;

Koutnikova, H ;

Dierich, A ;

LeMeur, M ;

Fischbeck, K ;

Dollé, P ;

Koenig, M .

HUMAN MOLECULAR GENETICS, 2000, 9 (08) :1219-1226

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