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

DOI Web Site 被引用文献41件
  • Victoria Campuzano
    V. Campuzano, M. Cossée, F. Rodius, F. Duclos, H. Koutnikova, J.-L. Mandel, M. Koenig, Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC), INSERM, Université Louis Pasteur, CNRS, and Centre Hospitalier Universitaire, 1 Rue Laurent Fries, BP 163, 67404 Illkirch Cedex - Strasbourg, France.
  • Laura Montermini
    L. Montermini, M. D. Moltò, F. Zara, S. Bidichandani, P. I. Patel, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Maria Dolores Moltò
    L. Montermini, M. D. Moltò, F. Zara, S. Bidichandani, P. I. Patel, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Luigi Pianese
    L. Pianese, A. Monticelli, S. Cocozza, Dipartimento di Biologia e Patologia Cellulare e Molecolare, University of Naples Federico II, and Centro Endocrinologia Oncologia Sperimentale Consiglio Nazionale delle Ricerche, Via Pansini 5, 80131 Naples, Italy.
  • Mireille Cossée
    V. Campuzano, M. Cossée, F. Rodius, F. Duclos, H. Koutnikova, J.-L. Mandel, M. Koenig, Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC), INSERM, Université Louis Pasteur, CNRS, and Centre Hospitalier Universitaire, 1 Rue Laurent Fries, BP 163, 67404 Illkirch Cedex - Strasbourg, France.
  • Francesca Cavalcanti
    F. Cavalcanti, Istituto Mediterraneo di Neuroscienze “Sanatrix,” 86077 Pozzilli (Isernia), Italy.
  • Eugenia Monros
    E. Monros and F. Palau, Unidad de Genetica, Hospital Universitari La Fe, Avenida Campanar 21, 46006 Valencia, Spain.
  • François Rodius
    V. Campuzano, M. Cossée, F. Rodius, F. Duclos, H. Koutnikova, J.-L. Mandel, M. Koenig, Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC), INSERM, Université Louis Pasteur, CNRS, and Centre Hospitalier Universitaire, 1 Rue Laurent Fries, BP 163, 67404 Illkirch Cedex - Strasbourg, France.
  • Franck Duclos
    V. Campuzano, M. Cossée, F. Rodius, F. Duclos, H. Koutnikova, J.-L. Mandel, M. Koenig, Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC), INSERM, Université Louis Pasteur, CNRS, and Centre Hospitalier Universitaire, 1 Rue Laurent Fries, BP 163, 67404 Illkirch Cedex - Strasbourg, France.
  • Antonella Monticelli
    L. Pianese, A. Monticelli, S. Cocozza, Dipartimento di Biologia e Patologia Cellulare e Molecolare, University of Naples Federico II, and Centro Endocrinologia Oncologia Sperimentale Consiglio Nazionale delle Ricerche, Via Pansini 5, 80131 Naples, Italy.
  • Federico Zara
    L. Montermini, M. D. Moltò, F. Zara, S. Bidichandani, P. I. Patel, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Joaquin Cañizares
    J. Cañizares and R. De Frutos, Department de Genetica, University of Valencia, C/Dr. Moliner 50, 46100 Burjassot (Valencia), Spain.
  • Hana Koutnikova
    V. Campuzano, M. Cossée, F. Rodius, F. Duclos, H. Koutnikova, J.-L. Mandel, M. Koenig, Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC), INSERM, Université Louis Pasteur, CNRS, and Centre Hospitalier Universitaire, 1 Rue Laurent Fries, BP 163, 67404 Illkirch Cedex - Strasbourg, France.
  • Sanjay I. Bidichandani
    L. Montermini, M. D. Moltò, F. Zara, S. Bidichandani, P. I. Patel, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Cinzia Gellera
    C. Gellera and S. Di Donato, Divisione di Biochimica e Genetica del Sistema Nervoso, Istituto Nazionale Neurologico “C. Besta,” Via Celoria 11, 20133 Milan, Italy.
  • Alexis Brice
    A. Brice, Hôpital de la Salpetriere, 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.
  • Paul Trouillas
    P. Trouillas, Hôpital Neurologique, Pier Wertheimer, 69003 Lyon, France.
  • Giuseppe De Michele
    G. De Michele and A. Filla, Dipartimento di Patologia Sistematica, Divisione di Neurologia II, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy.
  • Alessandro Filla
    G. De Michele and A. Filla, Dipartimento di Patologia Sistematica, Divisione di Neurologia II, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy.
  • Rosa De Frutos
    J. Cañizares and R. De Frutos, Department de Genetica, University of Valencia, C/Dr. Moliner 50, 46100 Burjassot (Valencia), Spain.
  • Francisco Palau
    E. Monros and F. Palau, Unidad de Genetica, Hospital Universitari La Fe, Avenida Campanar 21, 46006 Valencia, Spain.
  • Pragna I. Patel
    L. Montermini, M. D. Moltò, F. Zara, S. Bidichandani, P. I. Patel, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Stefano Di Donato
    C. Gellera and S. Di Donato, Divisione di Biochimica e Genetica del Sistema Nervoso, Istituto Nazionale Neurologico “C. Besta,” Via Celoria 11, 20133 Milan, Italy.
  • Jean-Louis Mandel
    V. Campuzano, M. Cossée, F. Rodius, F. Duclos, H. Koutnikova, J.-L. Mandel, M. Koenig, Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC), INSERM, Université Louis Pasteur, CNRS, and Centre Hospitalier Universitaire, 1 Rue Laurent Fries, BP 163, 67404 Illkirch Cedex - Strasbourg, France.
  • Sergio Cocozza
    L. Pianese, A. Monticelli, S. Cocozza, Dipartimento di Biologia e Patologia Cellulare e Molecolare, University of Naples Federico II, and Centro Endocrinologia Oncologia Sperimentale Consiglio Nazionale delle Ricerche, Via Pansini 5, 80131 Naples, Italy.
  • Michel Koenig
    V. Campuzano, M. Cossée, F. Rodius, F. Duclos, H. Koutnikova, J.-L. Mandel, M. Koenig, Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC), INSERM, Université Louis Pasteur, CNRS, and Centre Hospitalier Universitaire, 1 Rue Laurent Fries, BP 163, 67404 Illkirch Cedex - Strasbourg, France.
  • Massimo Pandolfo
    M. Pandolfo, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA, and Divisione di Biochimica e Genetica del Sistema Nervoso, Istituto Nazionale Neurologico “C. Besta,” Via Celoria 11, 20133 Milan, Italy.

書誌事項

公開日
1996-03-08
DOI
  • 10.1126/science.271.5254.1423
公開者
American Association for the Advancement of Science (AAAS)

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説明

<jats:p> Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, <jats:italic>X25</jats:italic> , 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 <jats:italic>Caenorhabditis elegans</jats:italic> and yeast. A few FRDA patients were found to have point mutations in <jats:italic>X25</jats:italic> , but the majority were homozygous for an unstable GAA trinucleotide expansion in the first <jats:italic>X25</jats:italic> intron. </jats:p>

収録刊行物

  • Science

    Science 271 (5254), 1423-1427, 1996-03-08

    American Association for the Advancement of Science (AAAS)

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