Abstract
Humans inheriting missense mutations in the presenilins (PS) 1 and 2 genes undergo progressive cerebral deposition of the amyloid β-protein (Aβ) at a very early age and develop a clinically and pathologically severe form of the familial Alzheimer’s disease (FAD). Because PS1 and PS2 mutations cause the most aggressive known form of AD, it is important to elucidate the structure and function of this multi-transmembrane protein and the mechanism by which it produces disease. To these ends, we have carried out a series of studies during the last two years that provide strong evidence that mutant presenilins act by enhancing the amyloidogenic processing of the β-amyloid precursor protein (APP). Here, we will review some of the salient findings from studies of the presenilin polypeptides and their pathogenic effects from our laboratory.
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Selkoe, D.J. et al. (1998). Mechanistic Studies of the Effect of Presenilins 1 and 2 on APP Metabolism. In: Younkin, S.G., Tanzi, R.E., Christen, Y. (eds) Presenilins and Alzheimer’s Disease. Research and Perspectives in Alzheimer’s Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-72103-8_6
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DOI: https://doi.org/10.1007/978-3-642-72103-8_6
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