This knock-in (KI) mouse model was generated by introducing a D427V point mutation into exon 10 of the mouse Gba1 (glucosidase, beta, acid 1) gene, which corresponds to the human D409V mutation (The ...

The gene PSEN2 encodes presenilin-2, a subunit of γ-secretase, the aspartyl protease responsible for Aβ generation. Missense mutations in PSEN2 are a rare cause of early onset Alzheimer's disease.

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