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- W2090996828 abstract "Huntington's disease (HD) is caused by a polyglutamine expansion in the protein huntingtin. In its terminal stage, HD is characterized by widespread neuronal death in the neocortex and the striatum. Classically, this neuronal death has been thought to underlie most of the symptoms of the disease. Accumulating evidence suggests, however, that cellular dysfunction is important in the pathogenesis of HD. We propose that specific impairment of the exocytosis and endocytosis machinery contributes to the development of HD. We also suggest that abnormal synaptic transmission underlies the early symptoms of HD and can contribute to the triggering of cell death in later stages of the disease." @default.
- W2090996828 created "2016-06-24" @default.
- W2090996828 creator A5002489039 @default.
- W2090996828 creator A5017506393 @default.
- W2090996828 creator A5072622786 @default.
- W2090996828 date "2003-10-01" @default.
- W2090996828 modified "2023-10-14" @default.
- W2090996828 title "Huntington's disease: a synaptopathy?" @default.
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- W2090996828 doi "https://doi.org/10.1016/j.molmed.2003.08.006" @default.
- W2090996828 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/14557053" @default.
- W2090996828 hasPublicationYear "2003" @default.
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