Publications:

The PSEN1 E280G mutation leads to increased amyloid-β43 production in induced pluripotent stem cell neurons and deposition in brain tissue.

Brain Communications

Willumsen, Nanet N; Arber, Charles C; Lovejoy, Christopher C; Toombs, Jamie J; Alatza, Argyro A; Weston, Philip S J PSJ; Chávez-Gutiérrez, Lucia L; Hardy, John J; Zetterberg, Henrik H; Fox, Nick C NC; Ryan, Natalie S NS; Lashley, Tammaryn T; Wray, Selina S

Publication Date: 2023

Variant appearance in text: PSEN1: E280Q

PubMed Link: 36687397

Variant Present in the following documents:

• Main text
• fcac321.pdf

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Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer's disease with cotton wool plaques due to a novel presenilin1 G417S mutation.

Acta Neuropathologica Communications

Miki, Tomoko T; Yokota, Osamu O; Haraguchi, Takashi T; Ikeuchi, Takeshi T; Zhu, Bin B; Takenoshita, Shintaro S; Terada, Seishi S; Yamada, Norihito N

Publication Date: 2019-02-12

Variant appearance in text: PSEN1: E280Q

PubMed Link: 30755281

Variant Present in the following documents:

• Main text
• 40478_2019_Article_672.pdf

View BVdb publication page