Publications:

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Decrease in p3-Alcβ37 and p3-Alcβ40, products of Alcadein β generated by γ-secretase cleavages, in aged monkeys and patients with Alzheimer's disease.

Alzheimer'S & Dementia (New York, N. Y.)

Hata, Saori S; Omori, Chiori C; Kimura, Ayano A; Saito, Haruka H; Kimura, Nobuyuki N; Gupta, Veer V; Pedrini, Steve S; Hone, Eugene E; Chatterjee, Pratishtha P; Taddei, Kevin K; Kasuga, Kensaku K; Ikeuchi, Takeshi T; Waragai, Masaaki M; Nishimura, Masaki M; Hu, Anqi A; Nakaya, Tadashi T; Meijer, Laurent L; Maeda, Masahiro M; Yamamoto, Tohru T; Masters, Colin L CL; Rowe, Chris C CC; Ames, David D; Yamamoto, Kazuo K; Martins, Ralph N RN; Gandy, Sam S; Suzuki, Toshiharu T

Publication Date: 2019

Variant appearance in text: PSEN1: Q222H

PubMed Link: 31754625

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

View BVdb publication page

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Two Novel Mutations and a de novo Mutation in PSEN1 in Early-onset Alzheimer's Disease.

Aging And Disease

Li, Yu-Sheng YS; Yang, Zhi-Hua ZH; Zhang, Yao Y; Yang, Jing J; Shang, Dan-Dan DD; Zhang, Shu-Yu SY; Wu, Jun J; Ji, Yan Y; Zhao, Lu L; Shi, Chang-He CH; Xu, Yu-Ming YM

Publication Date: 2019-08

Variant appearance in text: PSEN1: Q222H

PubMed Link: 31440394

Variant Present in the following documents:

• ad-10-4-908.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: Q222H

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

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Changes in the plasma proteome at asymptomatic and symptomatic stages of autosomal dominant Alzheimer's disease.

Scientific Reports

Muenchhoff, Julia J; Poljak, Anne A; Thalamuthu, Anbupalam A; Gupta, Veer B VB; Chatterjee, Pratishtha P; Raftery, Mark M; Masters, Colin L CL; Morris, John C JC; Bateman, Randall J RJ; Fagan, Anne M AM; Martins, Ralph N RN; Sachdev, Perminder S PS

Publication Date: 2016-07-06

Variant appearance in text: PSEN1: Q222H

PubMed Link: 27381087

Variant Present in the following documents:

• srep29078.pdf

View BVdb publication page

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Plasma Phospholipid and Sphingolipid Alterations in Presenilin1 Mutation Carriers: A Pilot Study.

Journal Of Alzheimer'S Disease : Jad

Chatterjee, Pratishtha P; Lim, Wei L F WL; Shui, Guanghou G; Gupta, Veer B VB; James, Ian I; Fagan, Anne M AM; Xiong, Chengjie C; Sohrabi, Hamid R HR; Taddei, Kevin K; Brown, Belinda M BM; Benzinger, Tammie T; Masters, Colin C; Snowden, Stuart G SG; Wenk, Marcus R MR; Bateman, Randall J RJ; Morris, John C JC; Martins, Ralph N RN

Publication Date: 2016

Variant appearance in text: PS1: Gln222His

PubMed Link: 26836186

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Current Neurology And Neuroscience Reports

Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,

Publication Date: 2014-11

Variant appearance in text: PSEN1: Gln222His

PubMed Link: 25217249

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Gln222His

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

Biomed Research International

Pilotto, Andrea A; Padovani, Alessandro A; Borroni, Barbara B

Publication Date: 2013

Variant appearance in text: PSEN1: Q222H

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

View BVdb publication page

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