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Polyglutamine disease: from pathogenesis to therapy.

Abstract:

Polyglutamine diseases are inherited neurodegenerative conditions arising from expanded trinucleotide CAG repeats in the disease-causing gene, which are translated into polyglutamine tracts in the resultant protein. Although these diseases share a common type of mutation, emerging evidence suggests that pathogenesis is complex, involving disruption of key cellular pathways, and varying with the disease context. An understanding of polyglutamine disease mechanisms is critical for development ...

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Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
Role:
Author
Journal:
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
Volume:
102
Issue:
6
Pages:
481-484
Publication date:
2012-06-05
EISSN:
2078-5135
ISSN:
0256-9574
URN:
uuid:036f9a60-3a9f-4c5c-8913-976ba63b9143
Source identifiers:
334764
Local pid:
pubs:334764

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