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

Victoria Campuzano; Laura Montermini; Maria Dolores Molto; Luigi Pianese; Mireille Cossée; Francesca Cavalcanti; Eugenia Monros; François Rodius; Franck Duclos; Antonella Monticelli; Federico Zara; Joaquin Canizares; Hana Koutnikova; Sanjay I. Bidichandani; Cinzia Gellera; Alexis Brice; Paul Trouillas; Guiseppe de Michele; Alessandro Filla; Rosa de Frutos; Francisco Palau; Pragna I Patel; Stefano Di Donato; Jean Louis Mandel; Sergio Cocozza; Michel Koenig; Massimo Pandolfo

doi:10.1126/science.271.5254.1423

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

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

Victoria Campuzano, Laura Montermini, Maria Dolores Molto, Luigi Pianese, Mireille Cossée, Francesca Cavalcanti, Eugenia Monros, François Rodius, Franck Duclos, Antonella Monticelli, …

Science (American Association for the Advancement of Science), Vol.271(5254), pp.1423-1427

08/03/1996

DOI: https://doi.org/10.1126/science.271.5254.1423

PMID: 8596916

Résumé

Biochemistry, Molecular Biology

Genetics

Human genetics

Life Sciences

Molecular biology

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. This 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.

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Détails

Titre: Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Créateurs - sans rôle: Victoria Campuzano - Institut de Génétique et de Biologie Moléculaire et Cellulaire
Laura Montermini - Baylor College of Medecine
Maria Dolores Molto - Baylor College of Medecine
Luigi Pianese - Dipartimento di Biologia e Patologia Cellulare e Moleculare
Mireille Cossée - Institut de Génétique et de Biologie Moléculaire et Cellulaire
Francesca Cavalcanti - Istituto Neurologico Mediterraneo
Eugenia Monros - Hospital Universitari i Politècnic La Fe = University and Polytechnic Hospital La Fe
François Rodius - Institut de génétique et de biologie moléculaire et cellulaire
Franck Duclos - Institut de Génétique et de Biologie Moléculaire et Cellulaire
Antonella Monticelli - Dipartimento di Biologia e Patologia Cellulare e Moleculare
Federico Zara - Baylor College of Medecine
Joaquin Canizares - Universitat de València = University of Valencia
Hana Koutnikova - Institut de Génétique et de Biologie Moléculaire et Cellulaire
Sanjay I. Bidichandani - Baylor College of Medecine
Cinzia Gellera - Instituto Neurologico C. Besta
Alexis Brice - CHU Pitié-Salpêtrière [AP-HP]
Paul Trouillas - Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL]
Guiseppe de Michele - University of Naples Federico II = Università degli studi di Napoli Federico II
Alessandro Filla - University of Naples Federico II
Rosa de Frutos - Universitat de València = University of Valencia
Francisco Palau - Hospital Universitari i Politècnic La Fe = University and Polytechnic Hospital La Fe
Pragna I Patel - Baylor College of Medecine
Stefano Di Donato - Instituto Neurologico C. Besta
Jean Louis Mandel - Institut de Génétique et de Biologie Moléculaire et Cellulaire
Sergio Cocozza - Dipartimento di Biologia e Patologia Cellulare e Moleculare
Michel Koenig - Institut de génétique et de biologie moléculaire et cellulaire
Massimo Pandolfo - Baylor College of Medecine
Détails de publication: Science (American Association for the Advancement of Science), Vol.271(5254), pp.1423-1427
Éditeur: American Association for the Advancement of Science (AAAS)
Nombre de pages: 5
Identifiants: 99148695709311
Unité académique: Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Langue: English
Type de ressource: Journal article