- 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...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1002/ana.20230
-
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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
- Language:
- English
- Keywords:
- Copyright date:
- 2004
Journal article
Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats.
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