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Journal article

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

Abstract:

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 cel...

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Publication status:
Published

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Publisher copy:
10.1002/ana.20230

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Role:
Author
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Journal:
Annals of neurology
Volume:
56
Issue:
3
Pages:
448-452
Publication date:
2004-09-05
DOI:
EISSN:
1531-8249
ISSN:
0364-5134
URN:
uuid:0c4e2d6f-dd8f-48d3-bf70-e43f62b6f646
Source identifiers:
241677
Local pid:
pubs:241677

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