Publications:

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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: Tyr115His

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Presenilin-1 F105C mutation leads to tau accumulation in human neurons via the Akt/mTORC1 signaling pathway.

Cell & Bioscience

Chong, Cheong-Meng CM; Tan, Yuan Y; Tong, Jiaqi J; Ke, Minjing M; Zhang, Ke K; Yan, Lingli L; Cen, Xiaotong X; Lu, Jia-Hong JH; Chen, Guobing G; Su, Huanxing H; Qin, Dajiang D

Publication Date: 2022-08-14

Variant appearance in text: PS1: Y115H

PubMed Link: 35965317

Variant Present in the following documents:

• Main text
• 13578_2022_Article_874.pdf

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PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.

Frontiers In Aging Neuroscience

Orozco-Barajas, Maribel M; Oropeza-Ruvalcaba, Yulisa Y; Canales-Aguirre, Alejandro A AA; Sánchez-González, Victor J VJ

Publication Date: 2022

Variant appearance in text: PSEN1: Y115H

PubMed Link: 35959289

Variant Present in the following documents:

• Main text
• fnagi-14-860529.pdf

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Plasma amyloid-β ratios in autosomal dominant Alzheimer's disease: the influence of genotype.

Brain : A Journal Of Neurology

O'Connor, Antoinette A; Pannee, Josef J; Poole, Teresa T; Arber, Charles C; Portelius, Erik E; Swift, Imogen J IJ; Heslegrave, Amanda J AJ; Abel, Emily E; Willumsen, Nanet N; Rice, Helen H; Weston, Philip S J PSJ; Ryan, Natalie S NS; Polke, James M JM; Nicholas, Jennifer M JM; Mead, Simon S; Wray, Selina S; Chávez-Gutiérrez, Lucía L; Frost, Chris C; Blennow, Kaj K; Zetterberg, Henrik H; Fox, Nick C NC

Publication Date: 2021-11-29

Variant appearance in text: PSEN1: Y115H

PubMed Link: 33892504

Variant Present in the following documents:

• Main text

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Hydrophilic loop 1 of Presenilin-1 and the APP GxxxG transmembrane motif regulate γ-secretase function in generating Alzheimer-causing Aβ peptides.

The Journal Of Biological Chemistry

Liu, Lei L; Lauro, Bianca M BM; Wolfe, Michael S MS; Selkoe, Dennis J DJ

Publication Date: 2021

Variant appearance in text: PS1: Y115H

PubMed Link: 33571524

Variant Present in the following documents:

• Main text
• main.pdf

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Mass spectrometry analysis of tau and amyloid-beta in iPSC-derived models of Alzheimer's disease and dementia.

Journal Of Neurochemistry

Arber, Charles C; Alatza, Argyro A; Leckey, Claire A CA; Paterson, Ross W RW; Zetterberg, Henrik H; Wray, Selina S

Publication Date: 2021-10

Variant appearance in text: PSEN1: Y115H

PubMed Link: 33539581

Variant Present in the following documents:

• Main text

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Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.

Cell Reports

Arber, Charles C; Lovejoy, Christopher C; Harris, Lachlan L; Willumsen, Nanet N; Alatza, Argyro A; Casey, Jackie M JM; Lines, Georgie G; Kerins, Caoimhe C; Mueller, Anika K AK; Zetterberg, Henrik H; Hardy, John J; Ryan, Natalie S NS; Fox, Nick C NC; Lashley, Tammaryn T; Wray, Selina S

Publication Date: 2021-01-12

Variant appearance in text: PSEN1: Y115H

PubMed Link: 33440141

Variant Present in the following documents:

• Main text
• mmc1.pdf
• mmc3.pdf

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Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)

Bagyinszky, Eva E; Lee, Hyon H; Pyun, Jung Min JM; Suh, Jeewon J; Kang, Min Ju MJ; Vo, Van Giau VG; An, Seong Soo A SSA; Park, Kee Hyung KH; Kim, SangYun S

Publication Date: 2020-06-14

Variant appearance in text: PSEN1: Tyr115His

PubMed Link: 32545847

Variant Present in the following documents:

• Main text
• diagnostics-10-00405.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: Y115H

PubMed Link: 32477171

Variant Present in the following documents:

• Main text
• fpsyt-11-00347.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: Y115H

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 patient-derived neurons reveal distinct mutation-specific effects on amyloid beta.

Molecular Psychiatry

Arber, Charles C; Toombs, Jamie J; Lovejoy, Christopher C; Ryan, Natalie S NS; Paterson, Ross W RW; Willumsen, Nanet N; Gkanatsiou, Eleni E; Portelius, Erik E; Blennow, Kaj K; Heslegrave, Amanda A; Schott, Jonathan M JM; Hardy, John J; Lashley, Tammaryn T; Fox, Nick C NC; Zetterberg, Henrik H; Wray, Selina S

Publication Date: 2020-11

Variant appearance in text: PSEN1: Y115H

PubMed Link: 30980041

Variant Present in the following documents:

• Main text

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A cellular complex of BACE1 and γ-secretase sequentially generates Aβ from its full-length precursor.

The Journal Of Cell Biology

Liu, Lei L; Ding, Li L; Rovere, Matteo M; Wolfe, Michael S MS; Selkoe, Dennis J DJ

Publication Date: 2019-02-04

Variant appearance in text: PS1: Y115H

PubMed Link: 30626721

Variant Present in the following documents:

• Main text
• JCB_201806205.pdf

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PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Bagyinszky, Eva E; Lee, Hye-Mi HM; Van Giau, Vo V; Koh, Seong-Beom SB; Jeong, Jee Hyang JH; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018-09-02

Variant appearance in text: PSEN1: Tyr115His

PubMed Link: 30200536

Variant Present in the following documents:

• Main text

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Dominant negative mechanism of Presenilin-1 mutations in FAD.

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

Watanabe, Hirotaka H; Shen, Jie J

Publication Date: 2017-11-28

Variant appearance in text: PS1: Y115H

PubMed Link: 29142009

Variant Present in the following documents:

• Main text

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Dominant negative effect of the loss-of-function γ-secretase mutants on the wild-type enzyme through heterooligomerization.

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

Zhou, Rui R; Yang, Guanghui G; Shi, Yigong Y

Publication Date: 2017-11-28

Variant appearance in text: PS1: Y115H

PubMed Link: 29078389

Variant Present in the following documents:

• Main text
• pnas.201713605.pdf

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Physical and functional interaction between the α- and γ-secretases: A new model of regulated intramembrane proteolysis.

The Journal Of Cell Biology

Chen, Allen C AC; Kim, Sumin S; Shepardson, Nina N; Patel, Sarvagna S; Hong, Soyon S; Selkoe, Dennis J DJ

Publication Date: 2015-12-21

Variant appearance in text: PS1: Y115H

PubMed Link: 26694839

Variant Present in the following documents:

• Main text

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γ-Secretase Modulators and APH1 Isoforms Modulate γ-Secretase Cleavage but Not Position of ε-Cleavage of the Amyloid Precursor Protein (APP).

Plos One

Lessard, Christian B CB; Cottrell, Barbara A BA; Maruyama, Hiroko H; Suresh, Suraj S; Golde, Todd E TE; Koo, Edward H EH

Publication Date: 2015

Variant appearance in text: PS1: Y115H

PubMed Link: 26678856

Variant Present in the following documents:

• Main text
• pone.0144758.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: Tyr115His

PubMed Link: 25217249

Variant Present in the following documents:

• Main text
• 11910_2014_Article_499.pdf

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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: Tyr115His

PubMed Link: 24729694

Variant Present in the following documents:

• Main text

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Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer's disease.

Brain : A Journal Of Neurology

Ryan, Natalie S NS; Keihaninejad, Shiva S; Shakespeare, Timothy J TJ; Lehmann, Manja M; Crutch, Sebastian J SJ; Malone, Ian B IB; Thornton, John S JS; Mancini, Laura L; Hyare, Harpreet H; Yousry, Tarek T; Ridgway, Gerard R GR; Zhang, Hui H; Modat, Marc M; Alexander, Daniel C DC; Rossor, Martin N MN; Ourselin, Sebastien S; Fox, Nick C NC

Publication Date: 2013-05

Variant appearance in text: PSEN1: Y115H

PubMed Link: 23539189

Variant Present in the following documents:

• Main text

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Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.

Plos One

Wray, Selina S; Self, Matthew M; , ; , ; , ; Lewis, Patrick A PA; Taanman, Jan-Willem JW; Ryan, Natalie S NS; Mahoney, Colin J CJ; Liang, Yuying Y; Devine, Michael J MJ; Sheerin, Una-Marie UM; Houlden, Henry H; Morris, Huw R HR; Healy, Daniel D; Marti-Masso, Jose-Felix JF; Preza, Elisavet E; Barker, Suzanne S; Sutherland, Margaret M; Corriveau, Roderick A RA; D'Andrea, Michael M; Schapira, Anthony H V AH; Uitti, Ryan J RJ; Guttman, Mark M; Opala, Grzegorz G; Jasinska-Myga, Barbara B; Puschmann, Andreas A; Nilsson, Christer C; Espay, Alberto J AJ; Slawek, Jaroslaw J; Gutmann, Ludwig L; Boeve, Bradley F BF; Boylan, Kevin K; Stoessl, A Jon AJ; Ross, Owen A OA; Maragakis, Nicholas J NJ; Van Gerpen, Jay J; Gerstenhaber, Melissa M; Gwinn, Katrina K; Dawson, Ted M TM; Isacson, Ole O; Marder, Karen S KS; Clark, Lorraine N LN; Przedborski, Serge E SE; Finkbeiner, Steven S; Rothstein, Jeffrey D JD; Wszolek, Zbigniew K ZK; Rossor, Martin N MN; Hardy, John J

Publication Date: 2012

Variant appearance in text: PSEN1: Y115H

PubMed Link: 22952635

Variant Present in the following documents:

• Main text
• pone.0043099.pdf

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The mechanism of γ-Secretase dysfunction in familial Alzheimer disease.

The Embo Journal

Chávez-Gutiérrez, Lucía L; Bammens, Leen L; Benilova, Iryna I; Vandersteen, Annelies A; Benurwar, Manasi M; Borgers, Marianne M; Lismont, Sam S; Zhou, Lujia L; Van Cleynenbreugel, Simon S; Esselmann, Hermann H; Wiltfang, Jens J; Serneels, Lutgarde L; Karran, Eric E; Gijsen, Harrie H; Schymkowitz, Joost J; Rousseau, Frederic F; Broersen, Kerensa K; De Strooper, Bart B

Publication Date: 2012-05-16

Variant appearance in text: PSEN1: Y115H

PubMed Link: 22505025

Variant Present in the following documents:

• Main text
• emboj201279a.pdf
• emboj201279s1.pdf

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Cerebral microbleeds in familial Alzheimer's disease.

Brain : A Journal Of Neurology

Ryan, Natalie S NS; Bastos-Leite, António J AJ; Rohrer, Jonathan D JD; Werring, David J DJ; Fox, Nick C NC; Rossor, Martin N MN; Schott, Jonathan M JM

Publication Date: 2012-01

Variant appearance in text: PSEN1: Y115H

PubMed Link: 21685457

Variant Present in the following documents:

• Main text

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The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.

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

Shen, Jie J; Kelleher, Raymond J RJ

Publication Date: 2007-01-09

Variant appearance in text: PS1: Y115H

PubMed Link: 17197420

Variant Present in the following documents:

• Main text

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A presenilin dimer at the core of the gamma-secretase enzyme: insights from parallel analysis of Notch 1 and APP proteolysis.

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

Schroeter, Eric H EH; Ilagan, Ma Xenia G MX; Brunkan, Anne L AL; Hecimovic, Silva S; Li, Yue-ming YM; Xu, Min M; Lewis, Huw D HD; Saxena, Meera T MT; De Strooper, Bart B; Coonrod, Archie A; Tomita, Taisuke T; Iwatsubo, Takeshi T; Moore, Chad L CL; Goate, Alison A; Wolfe, Michael S MS; Shearman, Mark M; Kopan, Raphael R

Publication Date: 2003-10-28

Variant appearance in text: PS1: Y115H

PubMed Link: 14566063

Variant Present in the following documents:

• Main text

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PS1 N- and C-terminal fragments form a complex that functions in APP processing and Notch signaling.

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

Levitan, D D; Lee, J J; Song, L L; Manning, R R; Wong, G G; Parker, E E; Zhang, L L

Publication Date: 2001-10-09

Variant appearance in text: PS1: Y115H

PubMed Link: 11593035

Variant Present in the following documents:

• Main text

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