. Presenilin-1 mutations in Alzheimer's disease. Nature. 2000 Jun 1;405(6786):531-2. PubMed.


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  1. This is a striking finding indicating that mutations in PS1 affect more than the C-terminus of Ab.

  2. Mutations in PS1 have been shown to increase production of Ab42. This current publication suggests that mutations in PS1 might also affect cleavage at the N-terminus of Ab, leading to production of truncated Ab.

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  1. Salzburg: Aβ’s N-terminal Shenanigans