Publications:

Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-09-19

Variant appearance in text: PSEN1: Ile213Phe

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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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: I213F

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Familial Alzheimer's Disease Lymphocytes Respond Differently Than Sporadic Cells to Oxidative Stress: Upregulated p53-p21 Signaling Linked with Presenilin 1 Mutants.

Molecular Neurobiology

Wojsiat, Joanna J; Laskowska-Kaszub, Katarzyna K; Alquézar, Carolina C; Białopiotrowicz, Emilia E; Esteras, Noemi N; Zdioruk, Mykola M; Martin-Requero, Angeles A; Wojda, Urszula U

Publication Date: 2017-09

Variant appearance in text: PS1: I213F

PubMed Link: 27644130

Variant Present in the following documents:

• Main text
• 12035_2016_Article_105.pdf

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Conformational altered p53 as an early marker of oxidative stress in Alzheimer's disease.

Plos One

Buizza, Laura L; Cenini, Giovanna G; Lanni, Cristina C; Ferrari-Toninelli, Giulia G; Prandelli, Chiara C; Govoni, Stefano S; Buoso, Erica E; Racchi, Marco M; Barcikowska, Maria M; Styczynska, Maria M; Szybinska, Aleksandra A; Butterfield, David Allan DA; Memo, Maurizio M; Uberti, Daniela D

Publication Date: 2012

Variant appearance in text: PS1: I213F

PubMed Link: 22242180

Variant Present in the following documents:

• Main text
• pone.0029789.pdf

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