Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

@article{Campuzano1996FriedreichsAA,
  title={Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion},
  author={V. Campuzano and L. Montermini and M. Molt{\'o} and L. Pianese and M. Coss{\'e}e and F. Cavalcanti and E. Monr{\'o}s and F. Rodius and F. Duclos and A. Monticelli and F. Zara and J. Ca{\~n}izares and H. Koutnikova and S. Bidichandani and C. Gellera and A. Brice and P. Trouillas and G. De Michele and A. Filla and R. de Frutos and F. Palau and P. Patel and S. di Donato and J. Mandel and S. Cocozza and M. Koenig and M. Pandolfo},
  journal={Science},
  year={1996},
  volume={271},
  pages={1423 - 1427}
}
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… Expand
Friedreich's ataxia.
Molecular pathogenesis of Friedreich ataxia.
Molecular genetics and pathogenesis of Friedreich ataxia
  • M. Pandolfo
  • Biology, Medicine
  • Neuromuscular Disorders
  • 1998
Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion
Friedreich's ataxia: from the patient to the gene
Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency.
Trinucleotide (GAA)n repeat expansion in two families with Friedreich’s ataxia with retained reflexes
Deciphering the cause of Friedreich ataxia
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 41 REFERENCES
Trinucleotide repeat expansions and human genetic disease.
  • G. Bates, H. Lehrach
  • Biology, Medicine
  • BioEssays : news and reviews in molecular, cellular and developmental biology
  • 1994
The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13.
Friedreich's ataxia: a defect in signal transduction?
...
1
2
3
4
5
...