Abstract
Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. The gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.
| Original language | English |
|---|---|
| Pages (from-to) | 1423-1427 |
| Number of pages | 5 |
| Journal | Science |
| Volume | 271 |
| Issue number | 5254 |
| Publication status | Published - Mar 8 1996 |
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ASJC Scopus subject areas
- General
Cite this
Friedreich's ataxia : Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. / Campuzano, Victoria; Montermini, Laura; Moltò, Maria Dolores; Pianese, Luigi; Cossée, Mireille; Cavalcanti, Francesca; Monros, Eugenia; Rodius, François; Duclos, Franck; Monticelli, Antonella; Zara, Federico; Cañizares, Joaquin; Koutnikova, Hana; Bidichandani, Sanjay I.; Gellera, Cinzia; Brice, Alexis; Trouillas, Paul; De Michele, Giuseppe; Filla, Alessandro; De Frutos, Rosa; Palau, Francisco; Patel, Pragna I.; Di Donato, Stefano; Mandel, Jean Louis; Cocozza, Sergio; Koenig, Michel; Pandolfo, Massimo.
In: Science, Vol. 271, No. 5254, 08.03.1996, p. 1423-1427.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Friedreich's ataxia
T2 - Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
AU - Campuzano, Victoria
AU - Montermini, Laura
AU - Moltò, Maria Dolores
AU - Pianese, Luigi
AU - Cossée, Mireille
AU - Cavalcanti, Francesca
AU - Monros, Eugenia
AU - Rodius, François
AU - Duclos, Franck
AU - Monticelli, Antonella
AU - Zara, Federico
AU - Cañizares, Joaquin
AU - Koutnikova, Hana
AU - Bidichandani, Sanjay I.
AU - Gellera, Cinzia
AU - Brice, Alexis
AU - Trouillas, Paul
AU - De Michele, Giuseppe
AU - Filla, Alessandro
AU - De Frutos, Rosa
AU - Palau, Francisco
AU - Patel, Pragna I.
AU - Di Donato, Stefano
AU - Mandel, Jean Louis
AU - Cocozza, Sergio
AU - Koenig, Michel
AU - Pandolfo, Massimo
PY - 1996/3/8
Y1 - 1996/3/8
N2 - Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. The gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.
AB - Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. The gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.
UR - http://www.scopus.com/inward/record.url?scp=13344270899&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=13344270899&partnerID=8YFLogxK
M3 - Article
C2 - 8596916
AN - SCOPUS:13344270899
VL - 271
SP - 1423
EP - 1427
JO - Science
JF - Science
SN - 0036-8075
IS - 5254
ER -