Publications:

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Humanin and Its Pathophysiological Roles in Aging: A Systematic Review.

Biology

Coradduzza, Donatella D; Congiargiu, Antonella A; Chen, Zhichao Z; Cruciani, Sara S; Zinellu, Angelo A; Carru, Ciriaco C; Medici, Serenella S

Publication Date: 2023-04-06

Variant appearance in text: PS1: C410Y

PubMed Link: 37106758

Variant Present in the following documents:

• Main text
• biology-12-00558.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: 1229G>A; Cys410Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Yang, YoungSoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2022-11-01

Variant appearance in text: PSEN1: Cys410Tyr

PubMed Link: 36362122

Variant Present in the following documents:

• Main text
• ijms-23-13331.pdf

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Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.

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

Novotny, Brenna C BC; Fernandez, Maria Victoria MV; Wang, Ciyang C; Budde, John P JP; Bergmann, Kristy K; Eteleeb, Abdallah M AM; Bradley, Joseph J; Webster, Carol C; Ebl, Curtis C; Norton, Joanne J; Gentsch, Jen J; Dube, Umber U; Wang, Fengxian F; Morris, John C JC; Bateman, Randall J RJ; Perrin, Richard J RJ; McDade, Eric E; Xiong, Chengjie C; Chhatwal, Jasmeer J; , ; , ; , ; Goate, Alison A; Farlow, Martin M; Schofield, Peter P; Chui, Helena H; Karch, Celeste M CM; Cruchaga, Carlos C; Benitez, Bruno A BA; Harari, Oscar O

Publication Date: 2022-10-17

Variant appearance in text: PSEN1: C410Y

PubMed Link: 36251323

Variant Present in the following documents:

• NIHMS1865189-supplement-SUPPORTING_INFORMATION_3.xlsx, sheet 1

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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: C410Y

PubMed Link: 35965317

Variant Present in the following documents:

• Main text
• 13578_2022_Article_874.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: C410Y

PubMed Link: 35928996

Variant Present in the following documents:

• Main text
• fnagi-14-903269.pdf

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Selective ferroptosis vulnerability due to familial Alzheimer's disease presenilin mutations.

Cell Death And Differentiation

Greenough, Mark A MA; Lane, Darius J R DJR; Balez, Rachelle R; Anastacio, Helena Targa Dias HTD; Zeng, Zhiwen Z; Ganio, Katherine K; McDevitt, Christopher A CA; Acevedo, Karla K; Belaidi, Abdel Ali AA; Koistinaho, Jari J; Ooi, Lezanne L; Ayton, Scott S; Bush, Ashley I AI

Publication Date: 2022-11

Variant appearance in text: PS1: C410Y

PubMed Link: 35449212

Variant Present in the following documents:

• Main text
• 41418_2022_Article_1003.pdf

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: PSEN1: 1229G>A; Cys410Tyr

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 2
• pcbi.1010013.s002.xlsx, sheet 4

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Prominent Striatum Amyloid Retention in Early-Onset Familial Alzheimer's Disease With PSEN1 Mutations: A Pilot PET/MR Study.

Frontiers In Aging Neuroscience

Qin, Qi Q; Fu, Liping L; Wang, Ruimin R; Lyu, Jihui J; Ma, Huixuan H; Zhan, Minmin M; Zhou, Aihong A; Wang, Fen F; Zuo, Xiumei X; Wei, Cuibai C

Publication Date: 2021

Variant appearance in text: PSEN1: C410Y

PubMed Link: 34603009

Variant Present in the following documents:

• Main text
• fnagi-13-732159.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: C410Y

PubMed Link: 34100423

Variant Present in the following documents:

• Main text
• NRR-17-31.pdf

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Limited Substrate Specificity of PS/γ-Secretase Is Supported by Novel Multiplexed FRET Analysis in Live Cells.

Biosensors

Houser, Mei C Q MCQ; Turchyna, Yuliia Y; Perrin, Florian F; Chibnik, Lori L; Berezovska, Oksana O; Maesako, Masato M

Publication Date: 2021-05-26

Variant appearance in text: PS1: C410Y

PubMed Link: 34073182

Variant Present in the following documents:

• Main text
• biosensors-11-00169.pdf

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Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.

Genome Medicine

Perrone, Federica F; Cacace, Rita R; van der Zee, Julie J; Van Broeckhoven, Christine C

Publication Date: 2021-04-14

Variant appearance in text: PSEN1: C410Y

PubMed Link: 33853652

Variant Present in the following documents:

• Main text
• 13073_2021_Article_878.pdf

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High-Throughput Methods in the Discovery and Study of Biomaterials and Materiobiology.

Chemical Reviews

Yang, Liangliang L; Pijuan-Galito, Sara S; Rho, Hoon Suk HS; Vasilevich, Aliaksei S AS; Eren, Aysegul Dede AD; Ge, Lu L; Habibović, Pamela P; Alexander, Morgan R MR; de Boer, Jan J; Carlier, Aurélie A; van Rijn, Patrick P; Zhou, Qihui Q

Publication Date: 2021-04-28

Variant appearance in text: rs661

PubMed Link: 33705116

Variant Present in the following documents:

• cr0c00752.pdf

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Comprehensive Review on Alzheimer's Disease: Causes and Treatment.

Molecules (Basel, Switzerland)

Breijyeh, Zeinab Z; Karaman, Rafik R

Publication Date: 2020-12-08

Variant appearance in text: PSEN1: C410Y

PubMed Link: 33302541

Variant Present in the following documents:

• Main text
• molecules-25-05789.pdf

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Hybrid PET/MRI enables high-spatial resolution, quantitative imaging of amyloid plaques in an Alzheimer's disease mouse model.

Scientific Reports

Frost, Georgia R GR; Longo, Valerie V; Li, Thomas T; Jonas, Lauren A LA; Judenhofer, Martin M; Cherry, Simon S; Koutcher, Jason J; Lekaye, Carl C; Zanzonico, Pat P; Li, Yue-Ming YM

Publication Date: 2020-06-25

Variant appearance in text: PS1: C410Y

PubMed Link: 32587315

Variant Present in the following documents:

• Main text

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Unraveling the complexity of γ-secretase.

Seminars In Cell & Developmental Biology

Wolfe, Michael S MS

Publication Date: 2020-09

Variant appearance in text: PSEN1: C410Y

PubMed Link: 31980377

Variant Present in the following documents:

• Main text

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Aβ43-producing PS1 FAD mutants cause altered substrate interactions and respond to γ-secretase modulation.

Embo Reports

Trambauer, Johannes J; Rodríguez Sarmiento, Rosa María RM; Fukumori, Akio A; Feederle, Regina R; Baumann, Karlheinz K; Steiner, Harald H

Publication Date: 2020-01-07

Variant appearance in text: PS1: C410Y

PubMed Link: 31762188

Variant Present in the following documents:

• Main text
• EMBR-21-e47996.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: C410Y

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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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: C410Y; rs661

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.

Translational Psychiatry

Jiang, Shan S; Wen, Natalie N; Li, Zeran Z; Dube, Umber U; Del Aguila, Jorge J; Budde, John J; Martinez, Rita R; Hsu, Simon S; Fernandez, Maria V MV; Cairns, Nigel J NJ; , ; , ; Harari, Oscar O; Cruchaga, Carlos C; Karch, Celeste M CM

Publication Date: 2018-12-13

Variant appearance in text: PSEN1: C410Y

PubMed Link: 30546007

Variant Present in the following documents:

• Main text
• 41398_2018_Article_319.pdf

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Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Alzheimer'S Research & Therapy

Karch, Celeste M CM; Hernández, Damián D; Wang, Jen-Chyong JC; Marsh, Jacob J; Hewitt, Alex W AW; Hsu, Simon S; Norton, Joanne J; Levitch, Denise D; Donahue, Tamara T; Sigurdson, Wendy W; Ghetti, Bernardino B; Farlow, Martin M; Chhatwal, Jasmeer J; Berman, Sarah S; Cruchaga, Carlos C; Morris, John C JC; Bateman, Randall J RJ; , ; Pébay, Alice A; Goate, Alison M AM

Publication Date: 2018-07-25

Variant appearance in text: PSEN1: C410Y

PubMed Link: 30045758

Variant Present in the following documents:

• Main text
• 13195_2018_Article_400.pdf

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Targeting Amyloid-β Precursor Protein, APP, Splicing with Antisense Oligonucleotides Reduces Toxic Amyloid-β Production.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy

Chang, Jennifer L JL; Hinrich, Anthony J AJ; Roman, Brandon B; Norrbom, Michaela M; Rigo, Frank F; Marr, Robert A RA; Norstrom, Eric M EM; Hastings, Michelle L ML

Publication Date: 2018-06-06

Variant appearance in text: PSEN1: C410Y

PubMed Link: 29628304

Variant Present in the following documents:

• Main text

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Impairment of memory generalization in preclinical autosomal dominant Alzheimer's disease mutation carriers.

Neurobiology Of Aging

Petok, Jessica R JR; Myers, Catherine E CE; Pa, Judy J; Hobel, Zachary Z; Wharton, David M DM; Medina, Luis D LD; Casado, Maria M; Coppola, Giovanni G; Gluck, Mark A MA; Ringman, John M JM

Publication Date: 2018-05

Variant appearance in text: PSEN1: C410Y

PubMed Link: 29494861

Variant Present in the following documents:

• Main text

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Short Aβ peptides attenuate Aβ42 toxicity in vivo.

The Journal Of Experimental Medicine

Moore, Brenda D BD; Martin, Jason J; de Mena, Lorena L; Sanchez, Jonatan J; Cruz, Pedro E PE; Ceballos-Diaz, Carolina C; Ladd, Thomas B TB; Ran, Yong Y; Levites, Yona Y; Kukar, Thomas L TL; Kurian, Justin J JJ; McKenna, Robert R; Koo, Edward H EH; Borchelt, David R DR; Janus, Christopher C; Rincon-Limas, Diego D; Fernandez-Funez, Pedro P; Golde, Todd E TE

Publication Date: 2018-01-02

Variant appearance in text: PSEN1: C410Y

PubMed Link: 29208777

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: C410Y

PubMed Link: 29142009

Variant Present in the following documents:

• 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: PSEN1: C410Y

PubMed Link: 29137240

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: C410Y

PubMed Link: 29078389

Variant Present in the following documents:

• Main text
• pnas.201713605.pdf

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Presenilin-1 mutations and Alzheimer's disease.

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

Kelleher, Raymond J RJ; Shen, Jie J

Publication Date: 2017-01-24

Variant appearance in text: PSEN1: C410Y

PubMed Link: 28082723

Variant Present in the following documents:

• Main text

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Presenilin 1 mutations influence processing and trafficking of the ApoE receptor apoER2.

Neurobiology Of Aging

Wang, Wei W; Moerman-Herzog, Andrea M AM; Slaton, Arthur A; Barger, Steven W SW

Publication Date: 2017-01

Variant appearance in text: PSEN1: C410Y

PubMed Link: 27810638

Variant Present in the following documents:

• Main text

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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: C410Y

PubMed Link: 27785004

Variant Present in the following documents:

• Main text
• cia-11-1433.pdf

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Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.

Neuron

Xia, Dan D; Kelleher, Raymond J RJ; Shen, Jie J

Publication Date: 2016-04-20

Variant appearance in text: PSEN1: C410Y

PubMed Link: 27100200

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Variant appearance in text: PS1: C410Y

PubMed Link: 26939744

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs661

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: C410Y

PubMed Link: 26608390

Variant Present in the following documents:

• Main text
• srep17042.pdf

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Restoring calcium homeostasis to treat Alzheimer's disease: a future perspective.

Neurodegenerative Disease Management

Popugaeva, Elena E; Vlasova, Olga L OL; Bezprozvanny, Ilya I

Publication Date: 2015-10

Variant appearance in text: PS1: C410Y

PubMed Link: 26477700

Variant Present in the following documents:

• Main text

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Gene expression parallels synaptic excitability and plasticity changes in Alzheimer's disease.

Frontiers In Cellular Neuroscience

Saura, Carlos A CA; Parra-Damas, Arnaldo A; Enriquez-Barreto, Lilian L

Publication Date: 2015

Variant appearance in text: PSEN1: C410Y

PubMed Link: 26379494

Variant Present in the following documents:

• Main text

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Autosomal Dominant Alzheimer Disease: A Unique Resource to Study CSF Biomarker Changes in Preclinical AD.

Frontiers In Neurology

Schindler, Suzanne Elizabeth SE; Fagan, Anne M AM

Publication Date: 2015

Variant appearance in text: PSEN1: C410Y

PubMed Link: 26175713

Variant Present in the following documents:

• Main text
• fneur-06-00142.pdf

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Presenilin-1 Dependent Neurogenesis Regulates Hippocampal Learning and Memory.

Plos One

Bonds, Jacqueline A JA; Kuttner-Hirshler, Yafit Y; Bartolotti, Nancy N; Tobin, Matthew K MK; Pizzi, Michael M; Marr, Robert R; Lazarov, Orly O

Publication Date: 2015

Variant appearance in text: PSEN1: C410Y

PubMed Link: 26098332

Variant Present in the following documents:

• Main text

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Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease.

Neuron

Xia, Dan D; Watanabe, Hirotaka H; Wu, Bei B; Lee, Sang Hun SH; Li, Yan Y; Tsvetkov, Evgeny E; Bolshakov, Vadim Y VY; Shen, Jie J; Kelleher, Raymond J RJ

Publication Date: 2015-03-04

Variant appearance in text: PSEN1: C410Y

PubMed Link: 25741723

Variant Present in the following documents:

• Main text

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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: Cys410Tyr

PubMed Link: 25217249

Variant Present in the following documents:

• Main text

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Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.

Neurobiology Of Aging

Sassi, Celeste C; Guerreiro, Rita R; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Chirstopher C; Lord, Jenny J; Turton, James J; Mann, David D; Snowden, Julie J; Neary, David D; Harris, Jeniffer J; Bras, Jose J; , ; Morgan, Kevin K; Powell, John F JF; Singleton, Andrew A; Hardy, John J

Publication Date: 2014-10

Variant appearance in text: PSEN1: C410Y; rs661

PubMed Link: 24880964

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: Cys410Tyr

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.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: C410Y

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

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Function and dysfunction of presenilin.

Neuro-Degenerative Diseases

Shen, Jie J

Publication Date: 2014

Variant appearance in text: PS1: C410Y

PubMed Link: 24107444

Variant Present in the following documents:

• Main text

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Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.

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

Heilig, Elizabeth A EA; Gutti, Usha U; Tai, Tara T; Shen, Jie J; Kelleher, Raymond J RJ

Publication Date: 2013-07-10

Variant appearance in text: PS1: C410Y

PubMed Link: 23843529

Variant Present in the following documents:

• Main text

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An integrated genetic linkage map for white clover (Trifolium repens L.) with alignment to Medicago.

Bmc Genomics

Griffiths, Andrew G AG; Barrett, Brent A BA; Simon, Deborah D; Khan, Anar K AK; Bickerstaff, Paul P; Anderson, Craig B CB; Franzmayr, Benjamin K BK; Hancock, Kerry R KR; Jones, Chris S CS

Publication Date: 2013-06-10

Variant appearance in text: rs661

PubMed Link: 23758831

Variant Present in the following documents:

• 1471-2164-14-388.pdf

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Molecular consequences of amyloid precursor protein and presenilin mutations causing autosomal-dominant Alzheimer's disease.

Alzheimer'S Research & Therapy

Weggen, Sascha S; Beher, Dirk D

Publication Date: 2012-03-30

Variant appearance in text: PSEN1: C410Y

PubMed Link: 22494386

Variant Present in the following documents:

• Main text

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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: C410Y

PubMed Link: 21663966

Variant Present in the following documents:

• Main text

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