Linked Life Data

17041811

Source:http://linkedlifedata.com/resource/pubmed/id/17041811

Statements in which the resource exists.
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pubmed-article:17041811pubmed:abstractTextHuntington's disease (HD) is a neurodegenerative disorder that usually starts in middle age and is characterized by involuntary movements (chorea), personality changes and dementia, leading to death within 10-20 years. The defective gene in HD contains a trinucleotide CAG repeat expansion within its coding region that expresses a polyglutamine repeat in the protein huntingtin. Together with the characteristic formation of aggregates in HD, aberrant protein interactions and several post-translational modifications affect huntingtin during disease progression and lead to the dysfunction and death of selective neurons in the brains of patients. The exact molecular mechanisms by which mutant huntingtin induces cell death are not completely understood but may involve the gain of new toxic functions and the loss of the beneficial properties of huntingtin. This review focuses on the cellular functions in which huntingtin is involved and how a better understanding of pathogenic pathways can lead to new therapeutic approaches.lld:pubmed
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pubmed-article:17041811pubmed:articleTitleHuntington's disease: from huntingtin function and dysfunction to therapeutic strategies.lld:pubmed
pubmed-article:17041811pubmed:affiliationCNRS UMR 146, Institut Curie, 91405 Orsay, France.lld:pubmed
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