Nomura S, Umeda T, Tomiyama T, Mori H. The E693Δ (Osaka) mutation in amyloid precursor protein potentiates cholesterol-mediated intracellular amyloid β toxicity via its impaired cholesterol efflux. J Neurosci Res. 2013 Dec;91(12):1541-50. Epub 2013 Sep 16 PubMed.

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Mutations

  1. APP E693del (Osaka)