Cai T, Hatano A, Kanatsu K, Tomita T. Histidine 131 in presenilin 1 is the pH-sensitive residue that causes the increase in Aβ42 level in acidic pH. J Biochem. 2020 May 1;167(5):463-471. PubMed.

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Mutations

  1. PSEN1 H131R