Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats

被引：39

作者：

Ansorge, O

Giunti, P

Michalik, A

Van Broeckhoven, C

Harding, B

Wood, N

Scaravilli, F

机构：

[1] Inst Neurol, Div Neuropathol, London WC1N 3BG, England

[2] Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

[3] Univ Antwerp, Dept Mol Genet, B-2020 Antwerp, Belgium

[4] Great Ormond St Hosp Sick Children, Dept Pathol, London WC1N 3JH, England

来源：

ANNALS OF NEUROLOGY | 2004年 / 56卷 / 03期

关键词：

D O I：

10.1002/ana.20230

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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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页码：448 / 452

页数：5

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