Molecular medicine
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Mutations in the presenilin proteins cause early-onset, familial Alzheimer's disease (FAD). ⋯ Overall presenilin expression and the relative abundance of full-length and amino-terminal fragments in presenilin FAD cases were similar to control cases and sporadic AD cases. Thus, accumulation of full-length protein or other gross mismetabolism of neither PS2 nor PS1 is a consequence of the FAD mutations examined.