Article
The presenilin 2 M239I mutation associated with familial Alzheimer's disease reduces Ca2+ release from intracellular stores.
Neurobiology of disease - 1 Mar 2004
Zatti Giancarlo, Ghidoni Roberta, Barbiero Laura, Binetti Giuliano, Pozzan Tullio, Fasolato Cristina, Pizzo Paola
Abstract excerpt
Mutations in presenilin (PS) genes account for the majority of the cases of the familial form of Alzheimer's disease (FAD). PS mutations have been correlated with both over-production of the amyloid-beta-42 (Abeta42) peptide and alterations of cellular Ca(2+) homeostasis. We here show, for the first time, the effect of the recently described PS2 FAD-associated M239I mutation on two major parameters of...
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