Friedreich ataxia: From GAA triplet-repeat expansion to frataxin deficiency

被引：92

作者：

Patel, PI

Isaya, G

机构：

[1] Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[3] Mayo Clin & Mayo Fdn, Dept Pediat & Adolescent Med, Rochester, MN 55905 USA

[4] Mayo Clin & Mayo Fdn, Dept Biochem & Mol Biol, Rochester, MN 55905 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 69卷 / 01期

关键词：

D O I：

10.1086/321283

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：15 / 24

页数：10

共 73 条

[1] Iron-dependent self assembly of recombinant yeast frataxin: Implications for Friedreich ataxia [J].

Adamec, J ;

Rusnak, F ;

Owen, WG ;

Naylor, S ;

Benson, LM ;

Gacy, AM ;

Isaya, G .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (03) :549-562

[2]

ADAMEC J, 2001, ENZYMES

[3]

Airoldi R., 2000, American Journal of Human Genetics, V67, P395

[4] 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

[5] The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure [J].

Bidichandani, SI ;

Ashizawa, T ;

Patel, PI .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (01) :111-121

[6] Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence [J].

Bidichandani, SI ;

Purandare, SM ;

Taylor, EE ;

Gumin, G ;

Machkhas, H ;

Harati, Y ;

Gibbs, RA ;

Ashizawa, T ;

Patel, PI .

HUMAN MOLECULAR GENETICS, 1999, 8 (13) :2425-2436

[7] Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia [J].

Bradley, JL ;

Blake, JC ;

Chamberlain, S ;

Thomas, PK ;

Cooper, JM ;

Schapira, AHV .

HUMAN MOLECULAR GENETICS, 2000, 9 (02) :275-282

[8] Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in Saccharomyces cerevisiae [J].

Branda, SS ;

Yang, ZY ;

Chew, A ;

Isaya, G .

HUMAN MOLECULAR GENETICS, 1999, 8 (06) :1099-1110

[9] 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

[10] 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

← 1 2 3 4 5 6 7 8 →