Publications:

Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations.

Neurobiology Of Disease

Pimenova, Anna A AA; Goate, Alison M AM

Publication Date: 2020-05

Variant appearance in text: PSEN1: V142F

PubMed Link: 32032730

Variant Present in the following documents:

• Main text

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Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications

Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH

Publication Date: 2019-07-12

Variant appearance in text: PSEN1: V142F

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

Neurobiology Of Aging

Wang, Jen-Chyong JC; Alinaghi, Somayeh S; Tafakhori, Abbas A; Sikora, Elizabeth E; Azcona, Luis J LJ; Karkheiran, Siamak S; Goate, Alison A; Paisán-Ruiz, Coro C; Darvish, Hossein H

Publication Date: 2018-02

Variant appearance in text: PSEN1: 424G>T; Val142Phe

PubMed Link: 29175279

Variant Present in the following documents:

• Main text

View BVdb publication page