| Literature DB >> 16412574 |
Giuliana Saltini1, Roberto Dominici, Carlo Lovati, Monica Cattaneo, Stefania Michelini, Giulia Malferrari, Andrea Caprera, Luciano Milanesi, Dario Finazzi, Pierluigi Bertora, Elio Scarpini, Daniela Galimberti, Eliana Venturelli, Massimo Musicco, Fulvio Adorni, Claudio Mariani, Ida Biunno.
Abstract
Alzheimer's disease (AD) is considered to be a conformational disease arising from the accumulation of misfolded and unfolded proteins in the endoplasmic reticulum (ER). SEL1L is a component of the ER stress degradation system, which serves to remove unfolded proteins by retrograde degradation using the ubiquitin-proteosome system. In order to identify genetic variations possibly involved in the disease, we analysed the entire SEL1L gene sequence in Italian sporadic AD patients. Here we report on the identification of a new polymorphism within the SEL1L intron 3 (IVS3-88 A>G), which contains potential binding sites for transcription factors involved in ER-induced stress. Our statistical analysis shows a possible role of the novel polymorphism as independent susceptibility factor of Alzheimer's dementia.Entities:
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Year: 2006 PMID： 16412574 DOI： 10.1016/j.neulet.2005.12.038
Source DB: PubMed Journal: Neurosci Lett ISSN： 0304-3940 Impact factor: 3.046