Article
Huntington's disease: from pathology and genetics to potential therapies.
The Biochemical journal - 1 Jun 2008
Imarisio Sara, Carmichael Jenny, Korolchuk Viktor, Chen Chien-Wen, Saiki Shinji, Rose Claudia, Krishna Gauri, Davies Janet E, Ttofi Evangelia, Underwood Benjamin R, Rubinsztein David C
Abstract excerpt
Huntington's disease (HD) is a devastating autosomal dominant neurodegenerative disease caused by a CAG trinucleotide repeat expansion encoding an abnormally long polyglutamine tract in the huntingtin protein. Much has been learnt since the mutation was identified in 1993. We review the functions of wild-type huntingtin. Mutant huntingtin may cause toxicity via a range of different mechanisms. The primary...
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