Publications:

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Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

International Journal Of Molecular Sciences

Yang, Youngsoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2023-05-08

Variant appearance in text: PSEN1: Ser290Cys

PubMed Link: 37176125

Variant Present in the following documents:

• ijms-24-08417.pdf

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Chaperone-Dependent Mechanisms as a Pharmacological Target for Neuroprotection.

International Journal Of Molecular Sciences

Voronin, Mikhail V MV; Abramova, Elena V EV; Verbovaya, Ekaterina R ER; Vakhitova, Yulia V YV; Seredenin, Sergei B SB

Publication Date: 2023-01-03

Variant appearance in text: PSEN1: Ser290Cys

PubMed Link: 36614266

Variant Present in the following documents:

• Main text
• ijms-24-00823.pdf

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Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Novotny, Brenna C BC; Fernandez, Maria Victoria MV; Wang, Ciyang C; Budde, John P JP; Bergmann, Kristy K; Eteleeb, Abdallah M AM; Bradley, Joseph J; Webster, Carol C; Ebl, Curtis C; Norton, Joanne J; Gentsch, Jen J; Dube, Umber U; Wang, Fengxian F; Morris, John C JC; Bateman, Randall J RJ; Perrin, Richard J RJ; McDade, Eric E; Xiong, Chengjie C; Chhatwal, Jasmeer J; , ; , ; , ; Goate, Alison A; Farlow, Martin M; Schofield, Peter P; Chui, Helena H; Karch, Celeste M CM; Cruchaga, Carlos C; Benitez, Bruno A BA; Harari, Oscar O

Publication Date: 2022-10-17

Variant appearance in text: PSEN1: Ser290Cys

PubMed Link: 36251323

Variant Present in the following documents:

• NIHMS1865189-supplement-SUPPORTING_INFORMATION_3.xlsx, sheet 1

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Recent Advances in the Modeling of Alzheimer's Disease.

Frontiers In Neuroscience

Sasaguri, Hiroki H; Hashimoto, Shoko S; Watamura, Naoto N; Sato, Kaori K; Takamura, Risa R; Nagata, Kenichi K; Tsubuki, Satoshi S; Ohshima, Toshio T; Yoshiki, Atsushi A; Sato, Kenya K; Kumita, Wakako W; Sasaki, Erika E; Kitazume, Shinobu S; Nilsson, Per P; Winblad, Bengt B; Saito, Takashi T; Iwata, Nobuhisa N; Saido, Takaomi C TC

Publication Date: 2022

Variant appearance in text: PSEN1: S290C

PubMed Link: 35431779

Variant Present in the following documents:

• Main text
• fnins-16-807473.pdf

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Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

The American Journal Of Pathology

Kalaria, Rajesh N RN; Sepulveda-Falla, Diego D

Publication Date: 2021-11

Variant appearance in text: PSEN1: Ser290Cys

PubMed Link: 34331941

Variant Present in the following documents:

• Main text
• main.pdf

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Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer's Disease With Early Presentation of Behavioral Disturbance.

Frontiers In Psychiatry

Zhang, Shouzi S; Li, Xiang X; Zhang, Li L; Meng, Xiangyan X; Ma, Li L; Zhang, Guangze G; Wu, Haiyan H; Liang, Ling L; Cao, Meng M; Mei, Fan F

Publication Date: 2020

Variant appearance in text: PSEN1: S290C

PubMed Link: 32477171

Variant Present in the following documents:

• Main text
• fpsyt-11-00347.pdf

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Transcriptomics in Alzheimer's Disease: Aspects and Challenges.

International Journal Of Molecular Sciences

Bagyinszky, Eva E; Giau, Vo Van VV; An, SeongSoo A SA

Publication Date: 2020-05-15

Variant appearance in text: PSEN1: Ser290Cys

PubMed Link: 32429229

Variant Present in the following documents:

• Main text
• ijms-21-03517.pdf

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Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)

Senanarong, Vorapun V; An, Seong Soo A SSA; Vo Van, Giau G; Limwongse, Chanin C; Bagyinszky, Eva E; Kim, SangYun S

Publication Date: 2020-03-01

Variant appearance in text: PSEN1: Ser290Cys

PubMed Link: 32121568

Variant Present in the following documents:

• Main text
• diagnostics-10-00135.pdf

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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: S290C

PubMed Link: 31754625

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.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: S290C

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Rapamycin and Alzheimer disease: a double-edged sword?

Autophagy

Carosi, Julian M JM; Sargeant, Timothy J TJ

Publication Date: 2019-08

Variant appearance in text: PSEN1: S290C

PubMed Link: 31066320

Variant Present in the following documents:

• Main text

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Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.

Translational Psychiatry

Jiang, Shan S; Wen, Natalie N; Li, Zeran Z; Dube, Umber U; Del Aguila, Jorge J; Budde, John J; Martinez, Rita R; Hsu, Simon S; Fernandez, Maria V MV; Cairns, Nigel J NJ; , ; , ; Harari, Oscar O; Cruchaga, Carlos C; Karch, Celeste M CM

Publication Date: 2018-12-13

Variant appearance in text: PSEN1: S290C

PubMed Link: 30546007

Variant Present in the following documents:

• Main text
• 41398_2018_Article_319.pdf

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An analysis of disease-gene relationship from Medline abstracts by DigSee.

Scientific Reports

Kim, Jeongkyun J; Kim, Jung-Jae JJ; Lee, Hyunju H

Publication Date: 2017-01-05

Variant appearance in text: PS1: S290C

PubMed Link: 28054646

Variant Present in the following documents:

• srep40154-s14.xls, sheet 2

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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: S290C

PubMed Link: 27381087

Variant Present in the following documents:

• Main text
• srep29078.pdf

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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: Ser290Cys

PubMed Link: 26836186

Variant Present in the following documents:

• Main text

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Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.

Journal Of Human Genetics

Kasuga, Kensaku K; Kikuchi, Masataka M; Tokutake, Takayoshi T; Nakaya, Akihiro A; Tezuka, Toshiyuki T; Tsukie, Tamao T; Hara, Norikazu N; Miyashita, Akinori A; Kuwano, Ryozo R; Ikeuchi, Takeshi T

Publication Date: 2015-05

Variant appearance in text: PSEN1: S290C

PubMed Link: 25694106

Variant Present in the following documents:

• jhg201515x1.pdf

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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: Ser290Cys

PubMed Link: 25217249

Variant Present in the following documents:

• Main text
• 11910_2014_Article_499.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: S290C

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

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Tailoring of membrane proteins by alternative splicing of pre-mRNA.

Biochemistry

Mittendorf, Kathleen F KF; Deatherage, Catherine L CL; Ohi, Melanie D MD; Sanders, Charles R CR

Publication Date: 2012-07-17

Variant appearance in text: PS1: S290C

PubMed Link: 22708632

Variant Present in the following documents:

• Main text

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Activation and intrinsic gamma-secretase activity of presenilin 1.

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

Ahn, Kwangwook K; Shelton, Christopher C CC; Tian, Yuan Y; Zhang, Xulun X; Gilchrist, M Lane ML; Sisodia, Sangram S SS; Li, Yue-Ming YM

Publication Date: 2010-12-14

Variant appearance in text: PS1: S290C

PubMed Link: 21115843

Variant Present in the following documents:

• Main text

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Familial Alzheimer's disease presenilin 1 mutations cause alterations in the conformation of presenilin and interactions with amyloid precursor protein.

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

Berezovska, Oksana O; Lleo, Alberto A; Herl, Lauren D LD; Frosch, Matthew P MP; Stern, Edward A EA; Bacskai, Brian J BJ; Hyman, Bradley T BT

Publication Date: 2005-03-16

Variant appearance in text: PS1: S290C

PubMed Link: 15772361

Variant Present in the following documents:

• Main text

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Genetics of early-onset Alzheimer dementia.

Thescientificworldjournal

Rademakers, Rosa R; Cruts, Marc M; Van Broeckhoven, Christine C

Publication Date: 2003-06-16

Variant appearance in text: PSEN1: S290C

PubMed Link: 12847300

Variant Present in the following documents:

• TSWJ-2003-3-586028.pdf

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