. Enhanced accumulation of phosphorylated alpha-synuclein and elevated beta-amyloid 42/40 ratio caused by expression of the presenilin-1 deltaT440 mutant associated with familial Lewy body disease and variant Alzheimer's disease. J Neurosci. 2007 Nov 28;27(48):13092-7. PubMed.

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Mutations

  1. PSEN1 E280A