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: Pro436Gln

PubMed Link: 37176125

Variant Present in the following documents:

• Main text
• ijms-24-08417.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: PSEN1: 1307C>A; Pro436Gln

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: Pro436Gln

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Genomic Mosaicism Formed by Somatic Variation in the Aging and Diseased Brain.

Genes

Costantino, Isabel I; Nicodemus, Juliet J; Chun, Jerold J

Publication Date: 2021-07-14

Variant appearance in text: PSEN1: P436Q

PubMed Link: 34356087

Variant Present in the following documents:

• Main text
• genes-12-01071.pdf

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Molecular Dysfunctions of Mitochondria-Associated Membranes (MAMs) in Alzheimer's Disease.

International Journal Of Molecular Sciences

Eysert, Fanny F; Kinoshita, Paula Fernanda PF; Mary, Arnaud A; Vaillant-Beuchot, Loan L; Checler, Frédéric F; Chami, Mounia M

Publication Date: 2020-12-14

Variant appearance in text: PS1: P436Q

PubMed Link: 33327665

Variant Present in the following documents:

• Main text
• ijms-21-09521.pdf

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A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.

Bmc Neurology

Van Giau, Vo V; Pyun, Jung-Min JM; Suh, Jeewon J; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, Sang Yun SY

Publication Date: 2019-08-07

Variant appearance in text: PSEN1: Pro436Gln

PubMed Link: 31391004

Variant Present in the following documents:

• 12883_2019_Article_1419.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: P436Q

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer's disease with cotton wool plaques due to a novel presenilin1 G417S mutation.

Acta Neuropathologica Communications

Miki, Tomoko T; Yokota, Osamu O; Haraguchi, Takashi T; Ikeuchi, Takeshi T; Zhu, Bin B; Takenoshita, Shintaro S; Terada, Seishi S; Yamada, Norihito N

Publication Date: 2019-02-12

Variant appearance in text: PSEN1: P436Q

PubMed Link: 30755281

Variant Present in the following documents:

• Main text
• 40478_2019_Article_672.pdf

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Homozygosity for the A431E mutation in PSEN1 presenting with a relatively aggressive phenotype.

Neuroscience Letters

Parker, John J; Mozaffar, Tahseen T; Messmore, Ashlynn A; Deignan, Joshua L JL; Kimonis, Virginia E VE; Ringman, John M JM

Publication Date: 2019-04-23

Variant appearance in text: PSEN1: P436Q

PubMed Link: 30716424

Variant Present in the following documents:

• Main text

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: PSEN1: P436Q

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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The role of de novo mutations in adult-onset neurodegenerative disorders.

Acta Neuropathologica

Nicolas, Gaël G; Veltman, Joris A JA

Publication Date: 2019-02

Variant appearance in text: PSEN1: 1307C>A; Pro436Gln

PubMed Link: 30478624

Variant Present in the following documents:

• 401_2018_1939_MOESM1_ESM.xlsx, sheet 1

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Role of presynaptic calcium stores for neural network dysfunction in Alzheimer's disease.

Neural Regeneration Research

Lerdkrai, Chommanad C; Garaschuk, Olga O

Publication Date: 2018-06

Variant appearance in text: PS1: P436Q

PubMed Link: 29926819

Variant Present in the following documents:

• Main text
• NRR-13-977.pdf

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Somatic DNA Variation in Brain as a Source of Risk for CNS Diseases.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology

Doyle, Glenn A GA; Berrettini, Wade H WH

Publication Date: 2016-01

Variant appearance in text: PSEN1: P436Q

PubMed Link: 26657964

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: Pro436Gln

PubMed Link: 24729694

Variant Present in the following documents:

• Main text

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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: P436Q

PubMed Link: 24377094

Variant Present in the following documents:

• Main text

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Upregulation of PGC-1α expression by Alzheimer's disease-associated pathway: presenilin 1/amyloid precursor protein (APP)/intracellular domain of APP.

Aging Cell

Robinson, Ari A; Grösgen, Sven S; Mett, Janine J; Zimmer, Valerie C VC; Haupenthal, Viola J VJ; Hundsdörfer, Benjamin B; Stahlmann, Christoph P CP; Slobodskoy, Yulia Y; Müller, Ulrike C UC; Hartmann, Tobias T; Stein, Reuven R; Grimm, Marcus O W MO

Publication Date: 2014-04

Variant appearance in text: PS1: P436Q

PubMed Link: 24304563

Variant Present in the following documents:

• Main text
• acel0013-0263.pdf

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Alzheimer's disease-linked mutations in presenilin-1 result in a drastic loss of activity in purified γ-secretase complexes.

Plos One

Cacquevel, Matthias M; Aeschbach, Lorène L; Houacine, Jemila J; Fraering, Patrick C PC

Publication Date: 2012

Variant appearance in text: PS1: P436Q

PubMed Link: 22529981

Variant Present in the following documents:

• Main text
• pone.0035133.pdf

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Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis.

Cell Calcium

Supnet, Charlene C; Bezprozvanny, Ilya I

Publication Date: 2011-09

Variant appearance in text: PS1: P436Q

PubMed Link: 21663966

Variant Present in the following documents:

• Main text

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Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds.

The Journal Of Biological Chemistry

Kretner, Benedikt B; Fukumori, Akio A; Gutsmiedl, Amelie A; Page, Richard M RM; Luebbers, Thomas T; Galley, Guido G; Baumann, Karlheinz K; Haass, Christian C; Steiner, Harald H

Publication Date: 2011-04-29

Variant appearance in text: PS1: P436Q

PubMed Link: 21357415

Variant Present in the following documents:

• Main text

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Processing of the synaptic cell adhesion molecule neurexin-3beta by Alzheimer disease alpha- and gamma-secretases.

The Journal Of Biological Chemistry

Bot, Nathalie N; Schweizer, Claude C; Ben Halima, Saoussen S; Fraering, Patrick C PC

Publication Date: 2011-01-28

Variant appearance in text: PS1: P436Q

PubMed Link: 21084300

Variant Present in the following documents:

• Main text

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A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity.

The Journal Of Biological Chemistry

Heilig, Elizabeth A EA; Xia, Weiming W; Shen, Jie J; Kelleher, Raymond J RJ

Publication Date: 2010-07-16

Variant appearance in text: PS1: P436Q

PubMed Link: 20460383

Variant Present in the following documents:

• Main text

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Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1.

The Journal Of Clinical Investigation

Nelson, Omar O; Tu, Huiping H; Lei, Tianhua T; Bentahir, Mostafa M; de Strooper, Bart B; Bezprozvanny, Ilya I

Publication Date: 2007-05

Variant appearance in text: PS1: P436Q

PubMed Link: 17431506

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: P436Q

PubMed Link: 12847300

Variant Present in the following documents:

• TSWJ-2003-3-586028.pdf

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