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Journal article

Chorein detection for the diagnosis of chorea-acanthocytosis.

Abstract:
Chorea-acanthocytosis (ChAc) is a severe, neurodegenerative disorder that shares clinical features with Huntington's disease and McLeod syndrome. It is caused by mutations in VPS13A, which encodes a large protein called chorein. Using antichorein antisera, we found expression of chorein in all human cells analyzed. However, chorein expression was absent or noticeably reduced in ChAc patient cells, but not McLeod syndrome and Huntington's disease cells. This suggests that loss of chorein expression is a diagnostic feature of ChAc.
Publication status:
Published

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Publisher copy:
10.1002/ana.20200

Authors


Dobson-Stone, C More by this author
Velayos-Baeza, A More by this author
Filippone, LA More by this author
Westbury, S More by this author
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Journal:
Annals of neurology
Volume:
56
Issue:
2
Pages:
299-302
Publication date:
2004-08-05
DOI:
EISSN:
1531-8249
ISSN:
0364-5134
URN:
uuid:df0293d6-84cd-49c9-be3d-5669626de402
Source identifiers:
32811
Local pid:
pubs:32811

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