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: Pro264Leu

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: 791C>T; Pro264Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Mixed Pathologies in a Subject with a Novel PSEN1 G206R Mutation.

Journal Of Alzheimer'S Disease : Jad

Libard, Sylwia S; Giedraitis, Vilmantas V; Kilander, Lena L; Ingelsson, Martin M; Alafuzoff, Irina I

Publication Date: 2022-10-22

Variant appearance in text: PSEN1: P264L

PubMed Link: 36314207

Variant Present in the following documents:

• jad-90-jad220655.pdf

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Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Frontiers In Aging Neuroscience

Bartoletti-Stella, Anna A; Tarozzi, Martina M; Mengozzi, Giacomo G; Asirelli, Francesca F; Brancaleoni, Laura L; Mometto, Nicola N; Stanzani-Maserati, Michelangelo M; Baiardi, Simone S; Linarello, Simona S; Spallazzi, Marco M; Pantieri, Roberta R; Ferriani, Elisa E; Caffarra, Paolo P; Liguori, Rocco R; Parchi, Piero P; Capellari, Sabina S

Publication Date: 2022

Variant appearance in text: PSEN1: 791C>T; Pro264Leu

PubMed Link: 36133075

Variant Present in the following documents:

• Main text
• fnagi-14-969817.pdf

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Patient-Derived Fibroblasts With Presenilin-1 Mutations, That Model Aspects of Alzheimer's Disease Pathology, Constitute a Potential Object for Early Diagnosis.

Frontiers In Aging Neuroscience

Lopez-Toledo, Gustavo G; Silva-Lucero, Maria-Del-Carmen MD; Herrera-Díaz, Jorge J; García, David-Erasmo DE; Arias-Montaño, José-Antonio JA; Cardenas-Aguayo, Maria-Del-Carmen MD

Publication Date: 2022

Variant appearance in text: PS1: P264L

PubMed Link: 35847683

Variant Present in the following documents:

• fnagi-14-921573.pdf

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A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Genome Medicine

Acosta-Uribe, Juliana J; Aguillón, David D; Cochran, J Nicholas JN; Giraldo, Margarita M; Madrigal, Lucía L; Killingsworth, Bradley W BW; Singhal, Rijul R; Labib, Sarah S; Alzate, Diana D; Velilla, Lina L; Moreno, Sonia S; García, Gloria P GP; Saldarriaga, Amanda A; Piedrahita, Francisco F; Hincapié, Liliana L; López, Hugo E HE; Perumal, Nithesh N; Morelo, Leonilde L; Vallejo, Dionis D; Solano, Juan Marcos JM; Reiman, Eric M EM; Surace, Ezequiel I EI; Itzcovich, Tatiana T; Allegri, Ricardo R; Sánchez-Valle, Raquel R; Villegas-Lanau, Andrés A; White, Charles L CL; Matallana, Diana D; Myers, Richard M RM; Browning, Sharon R SR; Lopera, Francisco F; Kosik, Kenneth S KS

Publication Date: 2022-03-08

Variant appearance in text: PSEN1: 791C>T; Pro264Leu; rs63750301

PubMed Link: 35260199

Variant Present in the following documents:

• Main text
• 13073_2022_1035_MOESM1_ESM.pdf
• 13073_2022_1035_MOESM9_ESM.xlsx, sheet 1
• 13073_2022_1035_MOESM7_ESM.pdf
• 13073_2022_Article_1035.pdf
• 13073_2022_1035_MOESM8_ESM.xlsx, sheet 1

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Mutation analysis of disease causing genes in patients with early onset or familial forms of Alzheimer's disease and frontotemporal dementia.

Bmc Genomics

Pagnon de la Vega, María M; Näslund, Carl C; Brundin, RoseMarie R; Lannfelt, Lars L; Löwenmark, Malin M; Kilander, Lena L; Ingelsson, Martin M; Giedraitis, Vilmantas V

Publication Date: 2022-02-04

Variant appearance in text: PSEN1: Pro264Leu; rs63750301

PubMed Link: 35120450

Variant Present in the following documents:

• Main text
• 12864_2022_Article_8343.pdf

View BVdb publication page

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Mutation analysis of disease causing genes in patients with early onset or familial forms of Alzheimer's disease and frontotemporal dementia.

Bmc Genomics

Pagnon de la Vega, María M; Näslund, Carl C; Brundin, RoseMarie R; Lannfelt, Lars L; Löwenmark, Malin M; Kilander, Lena L; Ingelsson, Martin M; Giedraitis, Vilmantas V

Publication Date: 2022-02-04

Variant appearance in text: PSEN1: Pro264Leu; rs63750301

PubMed Link: 35120450

Variant Present in the following documents:

• Main text
• 12864_2022_Article_8343.pdf

View BVdb publication page

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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: P264L

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: P264L

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

View BVdb publication page

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Oxidative Stress and Beta Amyloid in Alzheimer's Disease. Which Comes First: The Chicken or the Egg?

Antioxidants (Basel, Switzerland)

Tamagno, Elena E; Guglielmotto, Michela M; Vasciaveo, Valeria V; Tabaton, Massimo M

Publication Date: 2021-09-16

Variant appearance in text: PS1: P264L

PubMed Link: 34573112

Variant Present in the following documents:

• antioxidants-10-01479.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: 791C>T; P264L

PubMed Link: 34389718

Variant Present in the following documents:

• Main text

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A third-generation mouse model of Alzheimer's disease shows early and increased cored plaque pathology composed of wild-type human amyloid β peptide.

The Journal Of Biological Chemistry

Sato, Kaori K; Watamura, Naoto N; Fujioka, Ryo R; Mihira, Naomi N; Sekiguchi, Misaki M; Nagata, Kenichi K; Ohshima, Toshio T; Saito, Takashi T; Saido, Takaomi C TC; Sasaguri, Hiroki H

Publication Date: 2021-09

Variant appearance in text: PSEN1: P264L

PubMed Link: 34329683

Variant Present in the following documents:

• Main text
• main.pdf

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Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)

Willumsen, Nanet N; Poole, Teresa T; Nicholas, Jennifer M JM; Fox, Nick C NC; Ryan, Natalie S NS; Lashley, Tammaryn T

Publication Date: 2022-05

Variant appearance in text: PSEN1: P264L

PubMed Link: 34319632

Variant Present in the following documents:

• Main text
• BPA-32-e13009.pdf

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Presenilin mutations and their impact on neuronal differentiation in Alzheimer's disease.

Neural Regeneration Research

Hernandez-Sapiens, Mercedes A MA; Reza-Zaldívar, Edwin E EE; Márquez-Aguirre, Ana L AL; Gómez-Pinedo, Ulises U; Matias-Guiu, Jorge J; Cevallos, Ricardo R RR; Mateos-Díaz, Juan C JC; Sánchez-González, Víctor J VJ; Canales-Aguirre, Alejandro A AA

Publication Date: 2022-01

Variant appearance in text: PSEN1: P264L

PubMed Link: 34100423

Variant Present in the following documents:

• Main text
• NRR-17-31.pdf

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Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.

Alzheimer'S & Dementia (Amsterdam, Netherlands)

Chelban, Viorica V; Breza, Marianthi M; Szaruga, Maria M; Vandrovcova, Jana J; Murphy, David D; Lee, Chia-Ju CJ; Alikhwan, Sondos S; Bourinaris, Thomas T; Vavougios, George G; Ilyas, Muhammad M; Halim, Sobia Ahsan SA; Al-Harrasi, Ahmed A; Kartanou, Chrisoula C; Ronald, Coras C; Blumcke, Ingmar I; Alexoudi, Athanasia A; Gatzonis, Stylianos S; Stefanis, Leonidas L; Karadima, Georgia G; Wood, Nicholas W NW; Chávez-Gutiérrez, Lucía L; Hardy, John J; Houlden, Henry H; Koutsis, Georgios G

Publication Date: 2021

Variant appearance in text: PSEN1: Pro264Leu

PubMed Link: 33969176

Variant Present in the following documents:

• Main text

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Microglial-associated responses to comorbid amyloid pathology and hyperhomocysteinemia in an aged knock-in mouse model of Alzheimer's disease.

Journal Of Neuroinflammation

Braun, David J DJ; Dimayuga, Edgardo E; Morganti, Josh M JM; Van Eldik, Linda J LJ

Publication Date: 2020-09-17

Variant appearance in text: PS1: P264L

PubMed Link: 32943069

Variant Present in the following documents:

• Main text

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The two faces of synaptic failure in AppNL-G-F knock-in mice.

Alzheimer'S Research & Therapy

Latif-Hernandez, Amira A; Sabanov, Victor V; Ahmed, Tariq T; Craessaerts, Katleen K; Saito, Takashi T; Saido, Takaomi T; Balschun, Detlef D

Publication Date: 2020-08-24

Variant appearance in text: PSEN1: P264L

PubMed Link: 32838792

Variant Present in the following documents:

• Main text

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Genetic and polygenic risk score analysis for Alzheimer's disease in the Chinese population.

Alzheimer'S & Dementia (Amsterdam, Netherlands)

Zhou, Xiaopu X; Chen, Yu Y; Ip, Fanny C F FCF; Lai, Nicole C H NCH; Li, Yolanda Y T YYT; Jiang, Yuanbing Y; Zhong, Huan H; Chen, Yuewen Y; Zhang, Yulin Y; Ma, Shuangshuang S; Lo, Ronnie M N RMN; Cheung, Kit K; Tong, Estella P S EPS; Ko, Ho H; Shoai, Maryam M; Mok, Kin Y KY; Hardy, John J; Mok, Vincent C T VCT; Kwok, Timothy C Y TCY; Fu, Amy K Y AKY; Ip, Nancy Y NY

Publication Date: 2020

Variant appearance in text: PSEN1: P264L

PubMed Link: 32775599

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluating Circadian Dysfunction in Mouse Models of Alzheimer's Disease: Where Do We Stand?

Frontiers In Neuroscience

Sheehan, Patrick W PW; Musiek, Erik S ES

Publication Date: 2020

Variant appearance in text: PS1: P264L

PubMed Link: 32733196

Variant Present in the following documents:

• Main text

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Periodontitis Induced by P. gingivalis-LPS Is Associated With Neuroinflammation and Learning and Memory Impairment in Sprague-Dawley Rats.

Frontiers In Neuroscience

Hu, Yi Y; Li, Huxiao H; Zhang, Jing J; Zhang, Xu X; Xia, Xinyi X; Qiu, Che C; Liao, Yue Y; Chen, Huiwen H; Song, Zhongchen Z; Zhou, Wei W

Publication Date: 2020

Variant appearance in text: PS1: P264L

PubMed Link: 32714134

Variant Present in the following documents:

• fnins-14-00658.pdf

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Alzheimer's Disease, and Breast and Prostate Cancer Research: Translational Failures and the Importance to Monitor Outputs and Impact of Funded Research.

Animals : An Open Access Journal From Mdpi

Pistollato, Francesca F; Bernasconi, Camilla C; McCarthy, Janine J; Campia, Ivana I; Desaintes, Christian C; Wittwehr, Clemens C; Deceuninck, Pierre P; Whelan, Maurice M

Publication Date: 2020-07-14

Variant appearance in text: PS1: P264L

PubMed Link: 32674379

Variant Present in the following documents:

• animals-10-01194-s001.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: P264L

PubMed Link: 32477171

Variant Present in the following documents:

• Main text
• fpsyt-11-00347.pdf

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Unbiased Proteomic Approach Identifies Pathobiological Profiles in the Brains of Preclinical Models of Repetitive Mild Traumatic Brain Injury, Tauopathy, and Amyloidosis.

Asn Neuro

Ojo, Joseph O JO; Crynen, Gogce G; Algamal, Moustafa M; Vallabhaneni, Prashanti P; Leary, Paige P; Mouzon, Benoit B; Reed, Jon M JM; Mullan, Michael M; Crawford, Fiona F

Publication Date: 2020

Variant appearance in text: PS1: P264L

PubMed Link: 32241177

Variant Present in the following documents:

• 10.1177_1759091420914768.pdf

View BVdb publication page

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Targeting Synaptic Plasticity in Experimental Models of Alzheimer's Disease.

Frontiers In Pharmacology

Mango, Dalila D; Saidi, Amira A; Cisale, Giusy Ylenia GY; Feligioni, Marco M; Corbo, Massimo M; Nisticò, Robert R

Publication Date: 2019

Variant appearance in text: PS1: P264L

PubMed Link: 31379566

Variant Present in the following documents:

• Main text
• fphar-10-00778.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: P264L

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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Diffuse Lewy Body Disease and Alzheimer Disease: Neuropathologic Phenotype Associated With the PSEN1 p.A396T Mutation.

Journal Of Neuropathology And Experimental Neurology

Gondim, Dibson D DD; Oblak, Adrian A; Murrell, Jill R JR; Richardson, Rose R; Epperson, Francine F; Ross, Owen A OA; Ghetti, Bernardino B

Publication Date: 2019-07-01

Variant appearance in text: PSEN1: P264L

PubMed Link: 31165862

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of Motor Function in the Tg4-42 Mouse Model of Alzheimer's Disease.

Frontiers In Behavioral Neuroscience

Wagner, Jannek M JM; Sichler, Marius E ME; Schleicher, Eva M EM; Franke, Timon N TN; Irwin, Caroline C; Löw, Maximilian Johannes MJ; Beindorff, Nicola N; Bouter, Caroline C; Bayer, Thomas A TA; Bouter, Yvonne Y

Publication Date: 2019

Variant appearance in text: PS1: P264L

PubMed Link: 31156407

Variant Present in the following documents:

• Main text

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Brain transcriptome analysis of a familial Alzheimer's disease-like mutation in the zebrafish presenilin 1 gene implies effects on energy production.

Molecular Brain

Newman, Morgan M; Hin, Nhi N; Pederson, Stephen S; Lardelli, Michael M

Publication Date: 2019-05-03

Variant appearance in text: PSEN1: P264L

PubMed Link: 31053140

Variant Present in the following documents:

• 13041_2019_Article_467.pdf

View BVdb publication page

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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: P264L

PubMed Link: 30755281

Variant Present in the following documents:

• Main text
• 40478_2019_Article_672.pdf

View BVdb publication page

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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: P264L

PubMed Link: 30716424

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: P264L; rs63750301

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Molecular features of premenopausal breast cancers in Latin American women: Pilot results from the PRECAMA study.

Plos One

Olivier, Magali M; Bouaoun, Liacine L; Villar, Stephanie S; Robitaille, Alexis A; Cahais, Vincent V; Heguy, Adriana A; Byrnes, Graham G; Le Calvez-Kelm, Florence F; Torres-Mejía, Gabriela G; Alvarado-Cabrero, Isabel I; Imani-Razavi, Fazlollah Shahram FS; Inés Sánchez, Gloria G; Jaramillo, Roberto R; Porras, Carolina C; Rodriguez, Ana Cecilia AC; Garmendia, Maria Luisa ML; Soto, José Luis JL; Romieu, Isabelle I; Porter, Peggy P; Guenthoer, Jamie J; Rinaldi, Sabina S; ,

Publication Date: 2019

Variant appearance in text: PSEN1: P264L; rs63750301

PubMed Link: 30653559

Variant Present in the following documents:

• pone.0210372.s001.xlsx, sheet 3

View BVdb publication page

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Genetic screen in a large series of patients with primary progressive aphasia.

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

Ramos, Eliana Marisa EM; Dokuru, Deepika Reddy DR; Van Berlo, Victoria V; Wojta, Kevin K; Wang, Qing Q; Huang, Alden Y AY; Miller, Zachary A ZA; Karydas, Anna M AM; Bigio, Eileen H EH; Rogalski, Emily E; Weintraub, Sandra S; Rader, Benjamin B; Miller, Bruce L BL; Gorno-Tempini, Maria Luisa ML; Mesulam, Marek-Marsel MM; Coppola, Giovanni G

Publication Date: 2019-04

Variant appearance in text: PSEN1: Pro264Leu

PubMed Link: 30599136

Variant Present in the following documents:

• Main text

View BVdb publication page

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Chronic Intermittent Hypoxia Induces Robust Astrogliosis in an Alzheimer's Disease-Relevant Mouse Model.

Neuroscience

Macheda, Teresa T; Roberts, Kelly K; Lyons, Danielle N DN; Higgins, Emma E; Ritter, Kyle J KJ; Lin, Ai-Ling AL; Alilain, Warren J WJ; Bachstetter, Adam D AD

Publication Date: 2019-02-01

Variant appearance in text: PS1: P264L

PubMed Link: 30529693

Variant Present in the following documents:

• Main text

View BVdb publication page

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Redox proteomics and amyloid β-peptide: insights into Alzheimer disease.

Journal Of Neurochemistry

Butterfield, D Allan DA; Boyd-Kimball, Debra D

Publication Date: 2019-11

Variant appearance in text: PS1: P264L

PubMed Link: 30216447

Variant Present in the following documents:

• Main text

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Introduction of pathogenic mutations into the mouse Psen1 gene by Base Editor and Target-AID.

Nature Communications

Sasaguri, Hiroki H; Nagata, Kenichi K; Sekiguchi, Misaki M; Fujioka, Ryo R; Matsuba, Yukio Y; Hashimoto, Shoko S; Sato, Kaori K; Kurup, Deepika D; Yokota, Takanori T; Saido, Takaomi C TC

Publication Date: 2018-07-24

Variant appearance in text: PS1: P264L

PubMed Link: 30042426

Variant Present in the following documents:

• 41467_2018_Article_5262.pdf

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The genes associated with early-onset Alzheimer's disease.

Oncotarget

Dai, Meng-Hui MH; Zheng, Hui H; Zeng, Ling-Dan LD; Zhang, Yan Y

Publication Date: 2018-03-13

Variant appearance in text: PSEN1: P264L

PubMed Link: 29599933

Variant Present in the following documents:

• oncotarget-09-15132.pdf

View BVdb publication page

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Altered neurogenesis in mouse models of Alzheimer disease.

Neurogenesis (Austin, Tex.)

Wirths, Oliver O

Publication Date: 2017

Variant appearance in text: PS1: P264L

PubMed Link: 29564360

Variant Present in the following documents:

• Main text

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Genetics of dementia in a Finnish cohort.

European Journal Of Human Genetics : Ejhg

Pasanen, Petra P; Myllykangas, Liisa L; Pöyhönen, Minna M; Kiviharju, Anna A; Siitonen, Maija M; Hardy, John J; Bras, Jose J; Paetau, Anders A; Tienari, Pentti J PJ; Guerreiro, Rita R; Verkkoniemi-Ahola, Auli A

Publication Date: 2018-06

Variant appearance in text: PSEN1: Pro264Leu

PubMed Link: 29476165

Variant Present in the following documents:

• Main text

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APP mouse models for Alzheimer's disease preclinical studies.

The Embo Journal

Sasaguri, Hiroki H; Nilsson, Per P; Hashimoto, Shoko S; Nagata, Kenichi K; Saito, Takashi T; De Strooper, Bart B; Hardy, John J; Vassar, Robert R; Winblad, Bengt B; Saido, Takaomi C TC

Publication Date: 2017-09-01

Variant appearance in text: PSEN1: P264L

PubMed Link: 28768718

Variant Present in the following documents:

• Main text

View BVdb publication page

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Expression of endogenous mouse APP modulates β-amyloid deposition in hAPP-transgenic mice.

Acta Neuropathologica Communications

Steffen, Johannes J; Krohn, Markus M; Schwitlick, Christina C; Brüning, Thomas T; Paarmann, Kristin K; Pietrzik, Claus U CU; Biverstål, Henrik H; Jansone, Baiba B; Langer, Oliver O; Pahnke, Jens J

Publication Date: 2017-06-20

Variant appearance in text: PS1: P264L

PubMed Link: 28637503

Variant Present in the following documents:

• Main text
• 40478_2017_Article_448.pdf

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Retention of normal glia function by an isoform-selective protein kinase inhibitor drug candidate that modulates cytokine production and cognitive outcomes.

Journal Of Neuroinflammation

Zhou, Zhengqiu Z; Bachstetter, Adam D AD; Späni, Claudia B CB; Roy, Saktimayee M SM; Watterson, D Martin DM; Van Eldik, Linda J LJ

Publication Date: 2017-04-05

Variant appearance in text: PS1: P264L

PubMed Link: 28381303

Variant Present in the following documents:

• Main text

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APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

Plos Medicine

Lanoiselée, Hélène-Marie HM; Nicolas, Gaël G; Wallon, David D; Rovelet-Lecrux, Anne A; Lacour, Morgane M; Rousseau, Stéphane S; Richard, Anne-Claire AC; Pasquier, Florence F; Rollin-Sillaire, Adeline A; Martinaud, Olivier O; Quillard-Muraine, Muriel M; de la Sayette, Vincent V; Boutoleau-Bretonniere, Claire C; Etcharry-Bouyx, Frédérique F; Chauviré, Valérie V; Sarazin, Marie M; le Ber, Isabelle I; Epelbaum, Stéphane S; Jonveaux, Thérèse T; Rouaud, Olivier O; Ceccaldi, Mathieu M; Félician, Olivier O; Godefroy, Olivier O; Formaglio, Maite M; Croisile, Bernard B; Auriacombe, Sophie S; Chamard, Ludivine L; Vincent, Jean-Louis JL; Sauvée, Mathilde M; Marelli-Tosi, Cecilia C; Gabelle, Audrey A; Ozsancak, Canan C; Pariente, Jérémie J; Paquet, Claire C; Hannequin, Didier D; Campion, Dominique D; ,

Publication Date: 2017-03

Variant appearance in text: PSEN1: 791C>T; Pro264Leu

PubMed Link: 28350801

Variant Present in the following documents:

• Main text

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Direct Conversion of Human Fibroblasts into Neural Progenitors Using Transcription Factors Enriched in Human ESC-Derived Neural Progenitors.

Stem Cell Reports

Hou, Pei-Shan PS; Chuang, Ching-Yu CY; Yeh, Chan-Hsien CH; Chiang, Wei W; Liu, Hsiao-Jung HJ; Lin, Teng-Nan TN; Kuo, Hung-Chih HC

Publication Date: 2017-01-10

Variant appearance in text: PSEN1: P264L

PubMed Link: 27940274

Variant Present in the following documents:

• Main text
• mmc2.pdf
• mmc1.pdf
• main.pdf

View BVdb publication page

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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

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PubMed Link: 27930341

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Protein Quality Control in Health and Disease.

Cold Spring Harbor Perspectives In Biology

Dubnikov, Tatyana T; Ben-Gedalya, Tziona T; Cohen, Ehud E

Publication Date: 2017-03-01

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PubMed Link: 27864315

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PSEN1 L226F mutation in a patient with early-onset Alzheimer's disease in Korea.

Clinical Interventions In Aging

Bagyinszky, Eva E; Park, Sun Ah SA; Kim, Hyung Jun HJ; Choi, Seong Hye SH; An, Seong Soo A SS; Kim, Sang Yun SY

Publication Date: 2016

Variant appearance in text: PSEN1: P264L

PubMed Link: 27785004

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• cia-11-1433.pdf

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BACE1 in the retina: a sensitive biomarker for monitoring early pathological changes in Alzheimer's disease.

Neural Regeneration Research

Li, Lan L; Luo, Jia J; Chen, Dan D; Tong, Jian-Bin JB; Zeng, Le-Ping LP; Cao, Yan-Qun YQ; Xiang, Jian J; Luo, Xue-Gang XG; Shi, Jing-Ming JM; Wang, Hui H; Huang, Ju-Fang JF

Publication Date: 2016-03

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PubMed Link: 27127484

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• NRR-11-447.pdf

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From mutated genes to familial Alzheimer's disease.

Cell Cycle (Georgetown, Tex.)

Ben-Gedalya, Tziona T; Cohen, Ehud E

Publication Date: 2016

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PubMed Link: 26939744

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Genetic variants associated with neurodegenerative Alzheimer disease in natural models.

Biological Research

Salazar, Claudia C; Valdivia, Gonzalo G; Ardiles, Álvaro O ÁO; Ewer, John J; Palacios, Adrián G AG

Publication Date: 2016-02-26

Variant appearance in text: PSEN1: P264L

PubMed Link: 26919851

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• 40659_2016_Article_72.pdf

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Obesity, diabetes, and leptin resistance promote tau pathology in a mouse model of disease.

Neuroscience

Platt, T L TL; Beckett, T L TL; Kohler, K K; Niedowicz, D M DM; Murphy, M P MP

Publication Date: 2016-02-19

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PubMed Link: 26701291

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Qualitative changes in human γ-secretase underlie familial Alzheimer's disease.

The Journal Of Experimental Medicine

Szaruga, Maria M; Veugelen, Sarah S; Benurwar, Manasi M; Lismont, Sam S; Sepulveda-Falla, Diego D; Lleo, Alberto A; Ryan, Natalie S NS; Lashley, Tammaryn T; Fox, Nick C NC; Murayama, Shigeo S; Gijsen, Harrie H; De Strooper, Bart B; Chávez-Gutiérrez, Lucía L

Publication Date: 2015-11-16

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PubMed Link: 26481686

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Alzheimer's disease-causing proline substitutions lead to presenilin 1 aggregation and malfunction.

The Embo Journal

Ben-Gedalya, Tziona T; Moll, Lorna L; Bejerano-Sagie, Michal M; Frere, Samuel S; Cabral, Wayne A WA; Friedmann-Morvinski, Dinorah D; Slutsky, Inna I; Burstyn-Cohen, Tal T; Marini, Joan C JC; Cohen, Ehud E

Publication Date: 2015-11-12

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PubMed Link: 26438723

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Shared Neuropathological Characteristics of Obesity, Type 2 Diabetes and Alzheimer's Disease: Impacts on Cognitive Decline.

Nutrients

Walker, Jennifer M JM; Harrison, Fiona E FE

Publication Date: 2015-09-01

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PubMed Link: 26340637

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Closed head injury in an age-related Alzheimer mouse model leads to an altered neuroinflammatory response and persistent cognitive impairment.

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

Webster, Scott J SJ; Van Eldik, Linda J LJ; Watterson, D Martin DM; Bachstetter, Adam D AD

Publication Date: 2015-04-22

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PubMed Link: 25904805

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What we can learn from animal models about cerebral multi-morbidity.

Alzheimer'S Research & Therapy

Baker, Siân S; Götz, Jürgen J

Publication Date: 2015

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PubMed Link: 25810783

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Targeting human central nervous system protein kinases: An isoform selective p38αMAPK inhibitor that attenuates disease progression in Alzheimer's disease mouse models.

Acs Chemical Neuroscience

Roy, Saktimayee M SM; Grum-Tokars, Valerie L VL; Schavocky, James P JP; Saeed, Faisal F; Staniszewski, Agnieszka A; Teich, Andrew F AF; Arancio, Ottavio O; Bachstetter, Adam D AD; Webster, Scott J SJ; Van Eldik, Linda J LJ; Minasov, George G; Anderson, Wayne F WF; Pelletier, Jeffrey C JC; Watterson, D Martin DM

Publication Date: 2015-04-15

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PubMed Link: 25676389

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