Abstract
Mutations in the gene encoding the protein presenilin-1 are the most common cause of familial Alzheimer's disease1 and they often produce a different disease course from sporadic Alzheimer's and another familial form associated with mutations in the gene encoding β-amyloid precursor protein2. Here we show that a peculiar form of β-amyloid that is devoid of the first ten amino acids accumulates in the brains of patients carrying presenilin-1 mutations, and is more abundant than in subjects affected by the other types of Alzheimer's.
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References
Selkoe, D. J. Trends Cell Biol. 8, 447–453 (1998).
Lippa, C. F. et al. Neurology 46, 406– 412 (1996).
Teller, J. K. et al. Nature Med. 2, 93– 95 (1996).
Scheuner, D. et al. Nature Med. 2, 864– 870 (1996).
Citron, M. et al. Nature Med. 3, 67–72 (1997).
Wolfe, M. S. et al. Nature 398, 513–517 (1999).
Saido, T. C. et al. Neuron 14, 457–466 (1995).
Russo, C. et al. FEBS Lett. 409, 411–416 (1997).
Vassar, R. et al. Science 286, 735–741 (1999).
Sudoh, S. et al. J. Neurochem. 71, 1535– 1543 (1998).
Ancolio, K. et al. Proc. Natl Acad. Sci. USA 96, 4119– 4124 (1999).
Crook, R. et al. Nature Med. 4, 452–455 (1998).
Bessen, R. A. & Marsh, R. F. J. Virol. 68, 7859–7868 (1994).
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Russo, C., Schettini, G., Saido, T. et al. Presenilin-1 mutations in Alzheimer's disease . Nature 405, 531–532 (2000). https://doi.org/10.1038/35014735
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DOI: https://doi.org/10.1038/35014735
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