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: 438G>A; Met146Ile

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The PSEN1 E280G mutation leads to increased amyloid-β43 production in induced pluripotent stem cell neurons and deposition in brain tissue.

Brain Communications

Willumsen, Nanet N; Arber, Charles C; Lovejoy, Christopher C; Toombs, Jamie J; Alatza, Argyro A; Weston, Philip S J PSJ; Chávez-Gutiérrez, Lucia L; Hardy, John J; Zetterberg, Henrik H; Fox, Nick C NC; Ryan, Natalie S NS; Lashley, Tammaryn T; Wray, Selina S

Publication Date: 2023

Variant appearance in text: PSEN1: M146I

PubMed Link: 36687397

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• Main text
• fcac321.pdf

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Exploring the K isotope composition of Göttingen minipig brain regions, and implications for Alzheimer's disease.

Metallomics : Integrated Biometal Science

Mahan, Brandon B; Tacail, Theo T; Lewis, Jamie J; Elliott, Tim T; Habekost, Mette M; Turner, Simon S; Chung, Roger R; Moynier, Frédéric F

Publication Date: 2022-11-23

Variant appearance in text: PS1: M146I

PubMed Link: 36416864

Variant Present in the following documents:

• Main text
• mfac090.pdf

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Application of the transgenic pig model in biomedical research: A review.

Frontiers In Cell And Developmental Biology

Wei, Jialin J; Zhang, Wen W; Li, Jie J; Jin, Ye Y; Qiu, Zhidong Z

Publication Date: 2022

Variant appearance in text: PSEN1: Met146Ile

PubMed Link: 36325365

Variant Present in the following documents:

• Main text
• fcell-10-1031812.pdf

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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: Met146Ile

PubMed Link: 36142879

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• Main text
• ijms-23-10970.pdf

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An insight into the iPSCs-derived two-dimensional culture and three-dimensional organoid models for neurodegenerative disorders.

Interface Focus

Bhargava, Anushka A; Sandoval Castellanos, Ana M AM; Shah, Sonali S; Ning, Ke K

Publication Date: 2022-10-06

Variant appearance in text: PSEN1: M146I

PubMed Link: 35992771

Variant Present in the following documents:

• Main text
• rsfs.2022.0040.pdf

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Advances in pig models of human diseases.

Animal Models And Experimental Medicine

Hou, Naipeng N; Du, Xuguang X; Wu, Sen S

Publication Date: 2022-04

Variant appearance in text: PSEN1: M146I

PubMed Link: 35343091

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• Main text

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Circular RNA detection identifies circPSEN1 alterations in brain specific to autosomal dominant Alzheimer's disease.

Acta Neuropathologica Communications

Chen, Hsiang-Han HH; Eteleeb, Abdallah A; Wang, Ciyang C; Fernandez, Maria Victoria MV; Budde, John P JP; Bergmann, Kristy K; Norton, Joanne J; Wang, Fengxian F; Ebl, Curtis C; Morris, John C JC; Perrin, Richard J RJ; Bateman, Randall J RJ; McDade, Eric E; Xiong, Chengjie C; Goate, Alison A; Farlow, Martin M; Chhatwal, Jasmeer J; Schofield, Peter R PR; Chui, Helena H; Harari, Oscar O; Cruchaga, Carlos C; Ibanez, Laura L; ,

Publication Date: 2022-03-04

Variant appearance in text: PSEN1: Met146Ile

PubMed Link: 35246267

Variant Present in the following documents:

• 40478_2022_Article_1328.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: M146I

PubMed Link: 34319632

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• Main text
• BPA-32-e13009.pdf

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Tumour necrosis factor induces increased production of extracellular amyloid-β- and α-synuclein-containing aggregates by human Alzheimer's disease neurons.

Brain Communications

Whiten, Daniel R DR; Brownjohn, Philip W PW; Moore, Steven S; De, Suman S; Strano, Alessio A; Zuo, Yukun Y; Haneklaus, Moritz M; Klenerman, David D; Livesey, Frederick J FJ

Publication Date: 2020

Variant appearance in text: PSEN1: M146I

PubMed Link: 33543132

Variant Present in the following documents:

• Main text
• fcaa146.pdf

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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: M146I

PubMed Link: 33440141

Variant Present in the following documents:

• Main text
• mmc3.pdf
• mmc1.pdf

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Mutational analysis in familial Alzheimer's disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile.

Scientific Reports

Lin, Yung-Shuan YS; Cheng, Chih-Ya CY; Liao, Yi-Chu YC; Hong, Chen-Jee CJ; Fuh, Jong-Ling JL

Publication Date: 2020-11-13

Variant appearance in text: PSEN1: 438G>A; Met146Ile

PubMed Link: 33188256

Variant Present in the following documents:

• Main text
• 41598_2020_76794_MOESM2_ESM.pdf
• 41598_2020_Article_76794.pdf

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Modeling neurodegenerative diseases with cerebral organoids and other three-dimensional culture systems: focus on Alzheimer's disease.

Stem Cell Reviews And Reports

Venkataraman, Lalitha L; Fair, Summer R SR; McElroy, Craig A CA; Hester, Mark E ME; Fu, Hongjun H

Publication Date: 2022-02

Variant appearance in text: PSEN1: M146I

PubMed Link: 33180261

Variant Present in the following documents:

• Main text
• 12015_2020_Article_10068.pdf

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Modeling neurodegenerative diseases with cerebral organoids and other three-dimensional culture systems: focus on Alzheimer's disease.

Stem Cell Reviews And Reports

Venkataraman, Lalitha L; Fair, Summer R SR; McElroy, Craig A CA; Hester, Mark E ME; Fu, Hongjun H

Publication Date: 2020-11-12

Variant appearance in text: PSEN1: M146I

PubMed Link: 33180261

Variant Present in the following documents:

• Main text
• 12015_2020_Article_10068.pdf

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Genetics of dementia: insights from Latin America.

Dementia & Neuropsychologia

Ramos, Claudia C; Aguillon, David D; Cordano, Christian C; Lopera, Francisco F

Publication Date: 2020

Variant appearance in text: PSEN1: M146I

PubMed Link: 32973976

Variant Present in the following documents:

• Main text

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Human Pluripotent Stem Cell-Derived Neural Cells as a Relevant Platform for Drug Screening in Alzheimer's Disease.

International Journal Of Molecular Sciences

Garcia-Leon, Juan Antonio JA; Caceres-Palomo, Laura L; Sanchez-Mejias, Elisabeth E; Mejias-Ortega, Marina M; Nuñez-Diaz, Cristina C; Fernandez-Valenzuela, Juan Jose JJ; Sanchez-Varo, Raquel R; Davila, Jose Carlos JC; Vitorica, Javier J; Gutierrez, Antonia A

Publication Date: 2020-09-18

Variant appearance in text: PSEN1: M146I

PubMed Link: 32962164

Variant Present in the following documents:

• Main text
• ijms-21-06867.pdf

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Application of Genetically Engineered Pigs in Biomedical Research.

Genes

Hryhorowicz, Magdalena M; Lipiński, Daniel D; Hryhorowicz, Szymon S; Nowak-Terpiłowska, Agnieszka A; Ryczek, Natalia N; Zeyland, Joanna J

Publication Date: 2020-06-19

Variant appearance in text: PSEN1: M146I

PubMed Link: 32575461

Variant Present in the following documents:

• Main text

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Amyloid precursor protein processing in human neurons with an allelic series of the PSEN1 intron 4 deletion mutation and total presenilin-1 knockout.

Brain Communications

Arber, Charles C; Villegas-Llerena, Claudio C; Toombs, Jamie J; Pocock, Jennifer M JM; Ryan, Natalie S NS; Fox, Nick C NC; Zetterberg, Henrik H; Hardy, John J; Wray, Selina S

Publication Date: 2019

Variant appearance in text: PSEN1: M146I

PubMed Link: 32395715

Variant Present in the following documents:

• Main text
• fcz024.pdf

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Episomal Induced Pluripotent Stem Cells: Functional and Potential Therapeutic Applications.

Cell Transplantation

Wang, Aline Yen Ling AYL; Loh, Charles Yuen Yung CYY

Publication Date: 2019-12

Variant appearance in text: PSEN1: M146I

PubMed Link: 31722555

Variant Present in the following documents:

• 10.1177_0963689719886534.pdf

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Current status and future prospects of stem cell therapy in Alzheimer's disease.

Neural Regeneration Research

Zhang, Fu-Qiang FQ; Jiang, Jin-Lan JL; Zhang, Jing-Tian JT; Niu, Han H; Fu, Xue-Qi XQ; Zeng, Lin-Lin LL

Publication Date: 2020-02

Variant appearance in text: PSEN1: M146I

PubMed Link: 31552889

Variant Present in the following documents:

• NRR-15-242.pdf

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Modeling Alzheimer's disease with human iPS cells: advancements, lessons, and applications.

Neurobiology Of Disease

Essayan-Perez, Sofia S; Zhou, Bo B; Nabet, Amber M AM; Wernig, Marius M; Huang, Yu-Wen Alvin YA

Publication Date: 2019-10

Variant appearance in text: PSEN1: M146I

PubMed Link: 31202913

Variant Present in the following documents:

• Main text

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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: M146I

PubMed Link: 30980041

Variant Present in the following documents:

• Main text

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Opportunities and challenges for the use of induced pluripotent stem cells in modelling neurodegenerative disease.

Open Biology

Wu, Yi-Ying YY; Chiu, Feng-Lan FL; Yeh, Chan-Shien CS; Kuo, Hung-Chih HC

Publication Date: 2019-01-31

Variant appearance in text: PSEN1: M146I

PubMed Link: 30958120

Variant Present in the following documents:

• Main text
• rsob-9-180177.pdf

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Important advances in Alzheimer's disease from the use of induced pluripotent stem cells.

Journal Of Biomedical Science

Majolo, Fernanda F; Marinowic, Daniel Rodrigo DR; Machado, Denise Cantarelli DC; Da Costa, Jaderson Costa JC

Publication Date: 2019-02-06

Variant appearance in text: PS1: M146I

PubMed Link: 30728025

Variant Present in the following documents:

• Main text
• 12929_2019_Article_501.pdf

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Altered γ-Secretase Processing of APP Disrupts Lysosome and Autophagosome Function in Monogenic Alzheimer's Disease.

Cell Reports

Hung, Christy O Y COY; Livesey, Frederick J FJ

Publication Date: 2018-12-26

Variant appearance in text: PSEN1: M146I

PubMed Link: 30590039

Variant Present in the following documents:

• Main text

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Small-molecule induction of Aβ-42 peptide production in human cerebral organoids to model Alzheimer's disease associated phenotypes.

Plos One

Pavoni, Serena S; Jarray, Rafika R; Nassor, Ferid F; Guyot, Anne-Cécile AC; Cottin, Steve S; Rontard, Jessica J; Mikol, Jacqueline J; Mabondzo, Aloïse A; Deslys, Jean-Philippe JP; Yates, Frank F

Publication Date: 2018

Variant appearance in text: PSEN1: M146I

PubMed Link: 30557391

Variant Present in the following documents:

• Main text
• pone.0209150.pdf

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Synaptic dysfunction in neurodegenerative and neurodevelopmental diseases: an overview of induced pluripotent stem-cell-based disease models.

Open Biology

Taoufik, Era E; Kouroupi, Georgia G; Zygogianni, Ourania O; Matsas, Rebecca R

Publication Date: 2018-09

Variant appearance in text: PSEN1: M146I

PubMed Link: 30185603

Variant Present in the following documents:

• Main text
• rsob-8-180138.pdf

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APOE4 Causes Widespread Molecular and Cellular Alterations Associated with Alzheimer's Disease Phenotypes in Human iPSC-Derived Brain Cell Types.

Neuron

Lin, Yuan-Ta YT; Seo, Jinsoo J; Gao, Fan F; Feldman, Heather M HM; Wen, Hsin-Lan HL; Penney, Jay J; Cam, Hugh P HP; Gjoneska, Elizabeta E; Raja, Waseem K WK; Cheng, Jemmie J; Rueda, Richard R; Kritskiy, Oleg O; Abdurrob, Fatema F; Peng, Zhuyu Z; Milo, Blerta B; Yu, Chung Jong CJ; Elmsaouri, Sara S; Dey, Dilip D; Ko, Tak T; Yankner, Bruce A BA; Tsai, Li-Huei LH

Publication Date: 2018-06-27

Variant appearance in text: PSEN1: M146I

PubMed Link: 29861287

Variant Present in the following documents:

• Main text

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Genetically engineered pigs as models for human disease.

Disease Models & Mechanisms

Perleberg, Carolin C; Kind, Alexander A; Schnieke, Angelika A

Publication Date: 2018-01-22

Variant appearance in text: PSEN1: M146I

PubMed Link: 29419487

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• Main text

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Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.

Oncotarget

Grigorenko, Anastasia P AP; Moliaka, Youri K YK; Plotnikova, Olga V OV; Smirnov, Alexander A; Nikishina, Vera A VA; Goltsov, Andrey Y AY; Gusev, Fedor F; Andreeva, Tatiana V TV; Nelson, Omar O; Bezprozvanny, Ilya I; Rogaev, Evgeny I EI

Publication Date: 2017-10-10

Variant appearance in text: N/A

PubMed Link: 29137240

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Stem cell models of Alzheimer's disease: progress and challenges.

Alzheimer'S Research & Therapy

Arber, Charles C; Lovejoy, Christopher C; Wray, Selina S

Publication Date: 2017-06-13

Variant appearance in text: PSEN1: M146I

PubMed Link: 28610595

Variant Present in the following documents:

• Main text
• 13195_2017_Article_268.pdf

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Modeling tau pathology in human stem cell derived neurons.

Brain Pathology (Zurich, Switzerland)

Wray, Selina S

Publication Date: 2017-07

Variant appearance in text: PSEN1: M146I

PubMed Link: 28585382

Variant Present in the following documents:

• Main text

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An Aberrant Phosphorylation of Amyloid Precursor Protein Tyrosine Regulates Its Trafficking and the Binding to the Clathrin Endocytic Complex in Neural Stem Cells of Alzheimer's Disease Patients.

Frontiers In Molecular Neuroscience

Poulsen, Ebbe T ET; Iannuzzi, Filomena F; Rasmussen, Helle F HF; Maier, Thorsten J TJ; Enghild, Jan J JJ; Jørgensen, Arne L AL; Matrone, Carmela C

Publication Date: 2017

Variant appearance in text: N/A

PubMed Link: 28360834

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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: 438G>A; Met146Ile

PubMed Link: 28350801

Variant Present in the following documents:

• Main text

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Phenotypic Screening Identifies Modulators of Amyloid Precursor Protein Processing in Human Stem Cell Models of Alzheimer's Disease.

Stem Cell Reports

Brownjohn, Philip W PW; Smith, James J; Portelius, Erik E; Serneels, Lutgarde L; Kvartsberg, Hlin H; De Strooper, Bart B; Blennow, Kaj K; Zetterberg, Henrik H; Livesey, Frederick J FJ

Publication Date: 2017-04-11

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PubMed Link: 28285880

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Induced pluripotent stem cell technology: a decade of progress.

Nature Reviews. Drug Discovery

Shi, Yanhong Y; Inoue, Haruhisa H; Wu, Joseph C JC; Yamanaka, Shinya S

Publication Date: 2017-02

Variant appearance in text: PS1: M146I

PubMed Link: 27980341

Variant Present in the following documents:

• Main text

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3D culture models of Alzheimer's disease: a road map to a "cure-in-a-dish".

Molecular Neurodegeneration

Choi, Se Hoon SH; Kim, Young Hye YH; Quinti, Luisa L; Tanzi, Rudolph E RE; Kim, Doo Yeon DY

Publication Date: 2016-12-09

Variant appearance in text: PSEN1: M146I

PubMed Link: 27938410

Variant Present in the following documents:

• Main text
• 13024_2016_Article_139.pdf

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Self-Organizing 3D Human Neural Tissue Derived from Induced Pluripotent Stem Cells Recapitulate Alzheimer's Disease Phenotypes.

Plos One

Raja, Waseem K WK; Mungenast, Alison E AE; Lin, Yuan-Ta YT; Ko, Tak T; Abdurrob, Fatema F; Seo, Jinsoo J; Tsai, Li-Huei LH

Publication Date: 2016

Variant appearance in text: PSEN1: M146I

PubMed Link: 27622770

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• Main text

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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: Met146Ile

PubMed Link: 26836186

Variant Present in the following documents:

• Main text

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Reduction of increased calcineurin activity rescues impaired homeostatic synaptic plasticity in presenilin 1 M146V mutant.

Neurobiology Of Aging

Kim, Seonil S; Violette, Caroline J CJ; Ziff, Edward B EB

Publication Date: 2015-12

Variant appearance in text: N/A

PubMed Link: 26455952

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Alzheimer's in 3D culture: challenges and perspectives.

Bioessays : News And Reviews In Molecular, Cellular And Developmental Biology

D'Avanzo, Carla C; Aronson, Jenna J; Kim, Young Hye YH; Choi, Se Hoon SH; Tanzi, Rudolph E RE; Kim, Doo Yeon DY

Publication Date: 2015-10

Variant appearance in text: PSEN1: M146I

PubMed Link: 26252541

Variant Present in the following documents:

• Main text

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APP metabolism regulates tau proteostasis in human cerebral cortex neurons.

Cell Reports

Moore, Steven S; Evans, Lewis D B LD; Andersson, Therese T; Portelius, Erik E; Smith, James J; Dias, Tatyana B TB; Saurat, Nathalie N; McGlade, Amelia A; Kirwan, Peter P; Blennow, Kaj K; Hardy, John J; Zetterberg, Henrik H; Livesey, Frederick J FJ

Publication Date: 2015-05-05

Variant appearance in text: PSEN1: M146I

PubMed Link: 25921538

Variant Present in the following documents:

• Main text
• main.pdf
• mmc4.pdf
• mmc1.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: Met146Ile

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: Met146Ile

PubMed Link: 24729694

Variant Present in the following documents:

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