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Publication Detail
Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats
  • Publication Type:
    Journal article
  • Publication Sub Type:
  • Authors:
    Ansorge O, Giunti P, Michalik A, Van Broeckhoven C, Harding B, Wood N, Scaravilli F
  • Publication date:
  • Pagination:
    448, 452
  • Journal:
    Annals of Neurology
  • Volume:
  • Issue:
  • Print ISSN:
  • Keywords:
    7, A, AND, ARTICLE, Ataxia, BRAIN, cardiovascular, Case Report, cell, Child, Preschool, Differential, DISEASE, DISEASES, FEMALE, FOCUS, GENE, genetics, hippocampus, Human, HUMANS, IM, INFANT, Infantile, IS, JOURNAL, LA, LONDON, LONG, Male, METABOLISM, MODEL, models, NERVE, Nerve Tissue Proteins, Neurology, NEURONS, Neuropathology, OF, ORGAN, Pathology, pediatric, Pedigree, PROTEIN, Proteins, report, Research Support, Non-U.S.Gov\'t, SELECTIVE VULNERABILITY, SITE, Spinocerebellar Ataxias, Syndrome, SYSTEM, SYSTEMIC, THE, TISSUE, Trinucleotide Repeats, Ubiquitin, 2004/05, article, checked, Dept-Molecular Neuroscience, Div-Neurology, Div-Neuropathology, October, WOS, MyOPIA-submitted
  • Addresses:
    Division of Neuropathology, Institute of Neurology, Queen Square, London, United Kingdom. olaf.ansorge@clneuro.ox.ac.uk
  • Notes:
    DA - 20040906 IS - 0364-5134 LA - eng PT - Case Reports PT - Journal Article RN - 0 (Nerve Tissue Proteins) RN - 0 (SCA7 protein) RN - 0 (Ubiquitin) SB - IM
Extremely long (>150) CAG repeats are often used to create models of polyglutamine diseases yet are very rare in humans where they manifest as pediatric multisystem syndromes of little specificity. Here, we describe an infant with 180 CAG repeats in the spinocerebellar ataxia type 7 gene and focus on systemic ataxin-7 aggregation. This was found in many organs, including the cardiovascular system. In the brain, the hippocampus emerged as a principal site of ataxin-7 aggregation without cell loss. We note differential ubiquitination of aggregates and discuss how this may relate to selective vulnerability
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