Data di Pubblicazione:
2006
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.
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.
Tipologia CRIS:
1.1 Articolo in rivista
Elenco autori:
Saltini, G; Dominici, R; Lovati, C; Cattaneo, M; Michelini, S; Malferrari, G; Caprera, A; Milanesi, L; Finazzi, Dario; Bertora, P; Scarpini, E; Galimberti, D; Venturelli, E; Musicco, M; Adorni, F; Mariani, C; Biunno, I.
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