Publications:

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Prominent Striatum Amyloid Retention in Early-Onset Familial Alzheimer's Disease With PSEN1 Mutations: A Pilot PET/MR Study.

Frontiers In Aging Neuroscience

Qin, Qi Q; Fu, Liping L; Wang, Ruimin R; Lyu, Jihui J; Ma, Huixuan H; Zhan, Minmin M; Zhou, Aihong A; Wang, Fen F; Zuo, Xiumei X; Wei, Cuibai C

Publication Date: 2021

Variant appearance in text: PSEN1: F177L

PubMed Link: 34603009

Variant Present in the following documents:

• Main text
• fnagi-13-732159.pdf

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A Pathogenic Variant p.Phe177Val in PSEN1 Causes Early-Onset Alzheimer's Disease in a Chinese Family.

Frontiers In Genetics

Jiang, Bin B; Bi, Min M; Li, Jun J; Liu, Qi Q; Xiao, Nai-An NA; Fang, Jie J; Shi, Man-Yi MY; Yu, Zi-Wen ZW; Ma, Qi-Lin QL; Tong, Sui-Jun SJ; Zheng, Kun-Mu KM

Publication Date: 2020

Variant appearance in text: PSEN1: Phe177Leu

PubMed Link: 32754199

Variant Present in the following documents:

• Main text

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The Links between Cardiovascular Diseases and Alzheimer's Disease.

Current Neuropharmacology

Leszek, Jerzy J; Mikhaylenko, Elizaveta V EV; Belousov, Dmitrii M DM; Koutsouraki, Efrosini E; Szczechowiak, Katarzyna K; Kobusiak-Prokopowicz, Małgorzata M; Mysiak, Andrzej A; Diniz, Breno Satler BS; Somasundaram, Siva G SG; Kirkland, Cecil E CE; Aliev, Gjumrakch G

Publication Date: 2021

Variant appearance in text: PS1: F177L

PubMed Link: 32727331

Variant Present in the following documents:

• Main text
• CN-19-152.pdf

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Conformational Dynamics of Transmembrane Domain 3 of Presenilin 1 Is Associated with the Trimming Activity of γ-Secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Cai, Tetsuo T; Morishima, Kanan K; Takagi-Niidome, Shizuka S; Tominaga, Aya A; Tomita, Taisuke T

Publication Date: 2019-10-23

Variant appearance in text: PS1: F177L

PubMed Link: 31527118

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: F177L

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Sun, Linfeng L; Zhou, Rui R; Yang, Guanghui G; Shi, Yigong Y

Publication Date: 2017-01-24

Variant appearance in text: PS1: F177L

PubMed Link: 27930341

Variant Present in the following documents:

• Main text

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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: F177L

PubMed Link: 27644130

Variant Present in the following documents:

• Main text
• 12035_2016_Article_105.pdf

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An atomic structure of human γ-secretase.

Nature

Bai, Xiao-Chen XC; Yan, Chuangye C; Yang, Guanghui G; Lu, Peilong P; Ma, Dan D; Sun, Linfeng L; Zhou, Rui R; Scheres, Sjors H W SHW; Shi, Yigong Y

Publication Date: 2015-09-10

Variant appearance in text: PS1: F177L

PubMed Link: 26280335

Variant Present in the following documents:

• Main text

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The genetics of Alzheimer's disease.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2014

Variant appearance in text: PSEN1: Phe177Leu

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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