Publications:

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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: 811C>G; Leu271Val

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: Leu271Val

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Neural Networks in Autosomal Dominant Alzheimer's Disease: Insights From Functional Magnetic Resonance Imaging Studies.

Frontiers In Aging Neuroscience

Qiu, Qiongqiong Q

Publication Date: 2022

Variant appearance in text: PSEN1: L271V

PubMed Link: 35928996

Variant Present in the following documents:

• Main text
• fnagi-14-903269.pdf

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Active site geometry stabilization of a presenilin homolog by the lipid bilayer promotes intramembrane proteolysis.

Elife

Feilen, Lukas P LP; Chen, Shu-Yu SY; Fukumori, Akio A; Feederle, Regina R; Zacharias, Martin M; Steiner, Harald H

Publication Date: 2022-05-17

Variant appearance in text: PS1: L271V

PubMed Link: 35579427

Variant Present in the following documents:

• Main text
• elife-76090.pdf

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: PS1: L271V

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: PS1: L271V

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

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RNA Dynamics in Alzheimer's Disease.

Molecules (Basel, Switzerland)

Rybak-Wolf, Agnieszka A; Plass, Mireya M

Publication Date: 2021-08-24

Variant appearance in text: PSEN1: L271V

PubMed Link: 34500547

Variant Present in the following documents:

• Main text
• molecules-26-05113.pdf

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The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Npj Genomic Medicine

Jiao, Bin B; Liu, Hui H; Guo, Lina L; Xiao, Xuewen X; Liao, Xinxin X; Zhou, Yafang Y; Weng, Ling L; Zhou, Lu L; Wang, Xin X; Jiang, Yaling Y; Yang, Qijie Q; Zhu, Yuan Y; Zhou, Lin L; Zhang, Weiwei W; Wang, Junling J; Yan, Xinxiang X; Li, Jinchen J; Tang, Beisha B; Shen, Lu L

Publication Date: 2021-08-13

Variant appearance in text: PSEN1: L271V

PubMed Link: 34389718

Variant Present in the following documents:

• Main text
• 41525_2021_Article_235.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: Leu271Val

PubMed Link: 34331941

Variant Present in the following documents:

• Main text
• main.pdf

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Accelerated loss of hypoxia response in zebrafish with familial Alzheimer's disease-like mutation of presenilin 1.

Human Molecular Genetics

Newman, Morgan M; Nik, Hani Moussavi HM; Sutherland, Greg T GT; Hin, Nhi N; Kim, Woojin S WS; Halliday, Glenda M GM; Jayadev, Suman S; Smith, Carole C; Laird, Angela S AS; Lucas, Caitlin W CW; Kittipassorn, Thaksaon T; Peet, Dan J DJ; Lardelli, Michael M

Publication Date: 2020-08-11

Variant appearance in text: PSEN1: L271V

PubMed Link: 32588886

Variant Present in the following documents:

• Main text

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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: Leu271Val

PubMed Link: 32429229

Variant Present in the following documents:

• Main text
• ijms-21-03517.pdf

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Effects of gene mutation and disease progression on representative neural circuits in familial Alzheimer's disease.

Alzheimer'S Research & Therapy

Quan, Meina M; Zhao, Tan T; Tang, Yi Y; Luo, Ping P; Wang, Wei W; Qin, Qi Q; Li, Tingting T; Wang, Qigeng Q; Fang, Jiliang J; Jia, Jianping J

Publication Date: 2020-01-14

Variant appearance in text: PS1: L271V

PubMed Link: 31937364

Variant Present in the following documents:

• Main text
• 13195_2019_Article_572.pdf

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A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.

Frontiers In Neuroscience

Yu, Allen Chi-Shing AC; Yim, Aldrin Kay-Yuen AK; Chan, Anne Yin-Yan AY; Yuen, Liz Y P LYP; Au, Wing Chi WC; Cheng, Timothy H T THT; Lin, Xiao X; Li, Jing-Woei JW; Chan, Larry W L LWL; Mok, Vincent C T VCT; Chan, Ting-Fung TF; Chan, Ho Yin Edwin HYE

Publication Date: 2019

Variant appearance in text: PSEN1: 811C>G

PubMed Link: 31920494

Variant Present in the following documents:

• Main text
• fnins-13-01324.pdf

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Alternative splicing in a presenilin 2 variant associated with Alzheimer disease.

Annals Of Clinical And Translational Neurology

Braggin, Jacquelyn E JE; Bucks, Stephanie A SA; Course, Meredith M MM; Smith, Carole L CL; Sopher, Bryce B; Osnis, Leah L; Shuey, Kiel D KD; Domoto-Reilly, Kimiko K; Caso, Christina C; Kinoshita, Chizuru C; Scherpelz, Kathryn P KP; Cross, Chloe C; Grabowski, Thomas T; Nik, Seyyed H M SHM; Newman, Morgan M; Garden, Gwenn A GA; Leverenz, James B JB; Tsuang, Debby D; Latimer, Caitlin C; Gonzalez-Cuyar, Luis F LF; Keene, Christopher Dirk CD; Morrison, Richard S RS; Rhoads, Kristoffer K; Wijsman, Ellen M EM; Dorschner, Michael O MO; Lardelli, Michael M; Young, Jessica E JE; Valdmanis, Paul N PN; Bird, Thomas D TD; Jayadev, Suman S

Publication Date: 2019-04

Variant appearance in text: PS1: L271V

PubMed Link: 31020001

Variant Present in the following documents:

• ACN3-6-762.pdf

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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: L271V

PubMed Link: 30755281

Variant Present in the following documents:

• Main text
• 40478_2019_Article_672.pdf

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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: L271V; rs63750886

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: L271V

PubMed Link: 27930341

Variant Present in the following documents:

• Main text

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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: L271V

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: Leu271Val

PubMed Link: 26836186

Variant Present in the following documents:

• Main text

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Physiologically generated presenilin 1 lacking exon 8 fails to rescue brain PS1-/- phenotype and forms complexes with wildtype PS1 and nicastrin.

Scientific Reports

Brautigam, Hannah H; Moreno, Cesar L CL; Steele, John W JW; Bogush, Alexey A; Dickstein, Dara L DL; Kwok, John B J JB; Schofield, Peter R PR; Thinakaran, Gopal G; Mathews, Paul M PM; Hof, Patrick R PR; Gandy, Sam S; Ehrlich, Michelle E ME

Publication Date: 2015-11-26

Variant appearance in text: PS1: L271V

PubMed Link: 26608390

Variant Present in the following documents:

• Main text
• srep17042.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: Leu271Val

PubMed Link: 25217249

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: Leu271Val

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Characterization and molecular profiling of PSEN1 familial Alzheimer's disease iPSC-derived neural progenitors.

Plos One

Sproul, Andrew A AA; Jacob, Samson S; Pre, Deborah D; Kim, Soong Ho SH; Nestor, Michael W MW; Navarro-Sobrino, Miriam M; Santa-Maria, Ismael I; Zimmer, Matthew M; Aubry, Soline S; Steele, John W JW; Kahler, David J DJ; Dranovsky, Alex A; Arancio, Ottavio O; Crary, John F JF; Gandy, Sam S; Noggle, Scott A SA

Publication Date: 2014

Variant appearance in text: PSEN1: L271V

PubMed Link: 24416243

Variant Present in the following documents:

• Main text
• pone.0084547.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: L271V

PubMed Link: 24377094

Variant Present in the following documents:

• Main text

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Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.

Journal Of Alzheimer'S Disease : Jad

Nelson, Omar O; Supnet, Charlene C; Liu, Huarui H; Bezprozvanny, Ilya I

Publication Date: 2010

Variant appearance in text: PS1: L271V

PubMed Link: 20634584

Variant Present in the following documents:

• Main text

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