The expansion of the N-terminal poly-glutamine tract of the huntingtin (Htt) protein is responsible for Huntington disease (HD). A large number of studies have explored the neuronal phenotype of HD, but the molecular aethiology of the disease is still very poorly understood. This has hampered the development of an appropriate therapeutical strategy to at least alleviate its symptoms. In this short review, we have focused our attention on the alteration of a specific cellular mechanism common to all HD models, either genetic or induced by treatment with 3-NPA, i.e. the cellular dyshomeostasis of Ca(2+). We have highlighted the direct and indirect (i.e. transcriptionally mediated) effects of mutated Htt on the maintenance of the intracellular Ca(2+) balance, the correct modulation of which is fundamental to cell survival and the disturbance of which plays a key role in the death of the cell.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3609054PMC
http://dx.doi.org/10.4161/pri.23581DOI Listing

Publication Analysis

Top Keywords

huntington disease
8
neuronal ca2+
4
ca2+ dyshomeostasis
4
dyshomeostasis huntington
4
disease expansion
4
expansion n-terminal
4
n-terminal poly-glutamine
4
poly-glutamine tract
4
tract huntingtin
4
huntingtin htt
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!