Publications:

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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: PSEN2: Met239Val

PubMed Link: 36362122

Variant Present in the following documents:

• Main text
• ijms-23-13331.pdf

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PSEN2 Mutation Spectrum and Novel Functionally Validated Mutations in Alzheimer's Disease: Data from PUMCH Dementia Cohort.

Journal Of Alzheimer'S Disease : Jad

Dong, Liling L; Liu, Caiyan C; Sha, Longze L; Mao, Chenhui C; Li, Jie J; Huang, Xinying X; Wang, Jie J; Chu, Shanshan S; Peng, Bin B; Cui, Liying L; Xu, Qi Q; Gao, Jing J

Publication Date: 2022

Variant appearance in text: PSEN2: M239V

PubMed Link: 35491795

Variant Present in the following documents:

• Main text
• jad-87-jad220194.pdf

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Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.

Molecular Psychiatry

Petit, Dieter D; Fernández, Sara Gutiérrez SG; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Ryan, Natalie S NS; O'Connor, Antoinette A; Szaruga, Maria M; Hill, Elizabeth E; Vandenberghe, Rik R; Fox, Nick C NC; Chávez-Gutiérrez, Lucía L

Publication Date: 2022-06

Variant appearance in text: PSEN2: M239V

PubMed Link: 35365805

Variant Present in the following documents:

• Main text
• 41380_2022_Article_1518.pdf

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Calcium Signaling Regulated by Cellular Membrane Systems and Calcium Homeostasis Perturbed in Alzheimer's Disease.

Frontiers In Cell And Developmental Biology

Huang, Dong-Xu DX; Yu, Xin X; Yu, Wen-Jun WJ; Zhang, Xin-Min XM; Liu, Chang C; Liu, Hong-Ping HP; Sun, Yue Y; Jiang, Zi-Ping ZP

Publication Date: 2022

Variant appearance in text: PSEN2: M239V

PubMed Link: 35281104

Variant Present in the following documents:

• Main text

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Structural Predictive Model of Presenilin-2 Protein and Analysis of Structural Effects of Familial Alzheimer's Disease Mutations.

Biochemistry Research International

Soto-Ospina, Alejandro A; Araque Marín, Pedronel P; Bedoya, Gabriel de Jesús GJ; Villegas Lanau, Andrés A

Publication Date: 2021

Variant appearance in text: PS2: Met239Val

PubMed Link: 34881055

Variant Present in the following documents:

• Main text
• bri2021-9542038.pdf
• 9542038.f1.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: PSEN2: 715A>G; M239V

PubMed Link: 34389718

Variant Present in the following documents:

• Main text
• 41525_2021_Article_235.pdf

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Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy.

Alzheimer Disease And Associated Disorders

Li, Xu-Ying XY; Cui, Yue Y; Jing, Donglai D; Xie, Kexin K; Zhong, Xiaoling X; Kong, Yu Y; Wang, Yuting Y; Chu, Min M; Wang, Chaodong C; Wu, Liyong L

Publication Date: 2021

Variant appearance in text: PSEN2: M239V

PubMed Link: 33973882

Variant Present in the following documents:

• Main text

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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: PSEN2: M239V

PubMed Link: 33853652

Variant Present in the following documents:

• Main text
• 13073_2021_Article_878.pdf

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Neuronal Network Excitability in Alzheimer's Disease: The Puzzle of Similar versus Divergent Roles of Amyloid β and Tau.

Eneuro

Kazim, Syed Faraz SF; Seo, Joon Ho JH; Bianchi, Riccardo R; Larson, Chloe S CS; Sharma, Abhijeet A; Wong, Robert K S RKS; Gorbachev, Kirill Y KY; Pereira, Ana C AC

Publication Date: 2021

Variant appearance in text: PSEN2: M239V

PubMed Link: 33741601

Variant Present in the following documents:

• Main text

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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: PSEN2: M239V

PubMed Link: 33302541

Variant Present in the following documents:

• Main text
• molecules-25-05789.pdf

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Inhibition of 37/67kDa Laminin-1 Receptor Restores APP Maturation and Reduces Amyloid-β in Human Skin Fibroblasts from Familial Alzheimer's Disease.

Journal Of Personalized Medicine

Bhattacharya, Antaripa A; Izzo, Antonella A; Mollo, Nunzia N; Napolitano, Filomena F; Limone, Adriana A; Margheri, Francesca F; Mocali, Alessandra A; Minopoli, Giuseppina G; Lo Bianco, Alessandra A; Di Maggio, Federica F; D'Argenio, Valeria V; Montuori, Nunzia N; Lavecchia, Antonio A; Sarnataro, Daniela D

Publication Date: 2020-11-16

Variant appearance in text: PSEN2: M239V

PubMed Link: 33207563

Variant Present in the following documents:

• Main text

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Potential Drug Candidates to Treat TRPC6 Channel Deficiencies in the Pathophysiology of Alzheimer's Disease and Brain Ischemia.

Cells

Prikhodko, Veronika V; Chernyuk, Daria D; Sysoev, Yurii Y; Zernov, Nikita N; Okovityi, Sergey S; Popugaeva, Elena E

Publication Date: 2020-10-24

Variant appearance in text: PS2: M239V

PubMed Link: 33114455

Variant Present in the following documents:

• Main text
• cells-09-02351.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: PSEN2: 715A>G; Met239Val

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Next Generation Sequencing Analysis in Early Onset Dementia Patients.

Journal Of Alzheimer'S Disease : Jad

Bonvicini, Cristian C; Scassellati, Catia C; Benussi, Luisa L; Di Maria, Emilio E; Maj, Carlo C; Ciani, Miriam M; Fostinelli, Silvia S; Mega, Anna A; Bocchetta, Martina M; Lanzi, Gaetana G; Giacopuzzi, Edoardo E; Ferraboli, Sergio S; Pievani, Michela M; Fedi, Virginia V; Defanti, Carlo Alberto CA; Giliani, Silvia S; , ; Frisoni, Giovanni Battista GB; Ghidoni, Roberta R; Gennarelli, Massimo M

Publication Date: 2019

Variant appearance in text: PSEN2: M239V; rs28936379

PubMed Link: 30530974

Variant Present in the following documents:

• Main text
• jad-67-jad180482.pdf

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Blood-Brain Barrier: From Physiology to Disease and Back.

Physiological Reviews

Sweeney, Melanie D MD; Zhao, Zhen Z; Montagne, Axel A; Nelson, Amy R AR; Zlokovic, Berislav V BV

Publication Date: 2019-01-01

Variant appearance in text: PSEN2: M239V

PubMed Link: 30280653

Variant Present in the following documents:

• Main text

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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: PS2: M239V

PubMed Link: 29926819

Variant Present in the following documents:

• Main text
• NRR-13-977.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: PSEN2: M239V

PubMed Link: 29599933

Variant Present in the following documents:

• Main text
• oncotarget-09-15132.pdf

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Translational Research in Alzheimer's and Prion Diseases.

Journal Of Alzheimer'S Disease : Jad

Di Fede, Giuseppe G; Giaccone, Giorgio G; Salmona, Mario M; Tagliavini, Fabrizio F

Publication Date: 2018

Variant appearance in text: PSEN2: M239V

PubMed Link: 29172000

Variant Present in the following documents:

• Main text

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Genetic Heterogeneity of Alzheimer's Disease: Embracing Research Partnerships.

Journal Of Alzheimer'S Disease : Jad

Nacmias, Benedetta B; Bagnoli, Silvia S; Piaceri, Irene I; Sorbi, Sandro S

Publication Date: 2018

Variant appearance in text: PSEN2: M239V

PubMed Link: 29103034

Variant Present in the following documents:

• jad-62-jad170570.pdf

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Maysin and Its Flavonoid Derivative from Centipedegrass Attenuates Amyloid Plaques by Inducting Humoral Immune Response with Th2 Skewed Cytokine Response in the Tg (APPswe, PS1dE9) Alzheimer's Mouse Model.

Plos One

Song, Yuno Y; Kim, Hong-Duck HD; Lee, Min-Kwon MK; Hong, Il-Hwa IH; Won, Chung-Kil CK; Bai, Hyoung-Woo HW; Lee, Seung Sik SS; Lee, SungBeom S; Chung, Byung Yeoup BY; Cho, Jae-Hyeon JH

Publication Date: 2017

Variant appearance in text: PS2: M239V

PubMed Link: 28072821

Variant Present in the following documents:

• pone.0169509.pdf

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Etiologic Framework for the Study of Neurodegenerative Disorders as Well as Vascular and Metabolic Comorbidities on the Grounds of Shared Epidemiologic and Biologic Features.

Frontiers In Aging Neuroscience

de Pedro-Cuesta, Jesús J; Martínez-Martín, Pablo P; Rábano, Alberto A; Ruiz-Tovar, María M; Alcalde-Cabero, Enrique E; Calero, Miguel M

Publication Date: 2016

Variant appearance in text: PS2: M239V

PubMed Link: 27378910

Variant Present in the following documents:

• Main text
• fnagi-08-00138.pdf

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Restricted Location of PSEN2/γ-Secretase Determines Substrate Specificity and Generates an Intracellular Aβ Pool.

Cell

Sannerud, Ragna R; Esselens, Cary C; Ejsmont, Paulina P; Mattera, Rafael R; Rochin, Leila L; Tharkeshwar, Arun Kumar AK; De Baets, Greet G; De Wever, Veerle V; Habets, Roger R; Baert, Veerle V; Vermeire, Wendy W; Michiels, Christine C; Groot, Arjan J AJ; Wouters, Rosanne R; Dillen, Katleen K; Vints, Katlijn K; Baatsen, Pieter P; Munck, Sebastian S; Derua, Rita R; Waelkens, Etienne E; Basi, Guriqbal S GS; Mercken, Mark M; Vooijs, Marc M; Bollen, Mathieu M; Schymkowitz, Joost J; Rousseau, Frederic F; Bonifacino, Juan S JS; Van Niel, Guillaume G; De Strooper, Bart B; Annaert, Wim W

Publication Date: 2016-06-30

Variant appearance in text: PSEN2: M239V

PubMed Link: 27293189

Variant Present in the following documents:

• Main text

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Genetic Association between Presenilin 2 Polymorphisms and Alzheimer's Disease and Dementia of Lewy Body Type in a Japanese Population.

Dementia And Geriatric Cognitive Disorders Extra

Suzuki, Ayako A; Shibata, Nobuto N; Kasanuki, Koji K; Nagata, Tomoyuki T; Shinagawa, Shunichiro S; Kobayashi, Nobuyuki N; Ohnuma, Tohru T; Takeshita, Yoshihide Y; Kawai, Eri E; Takayama, Toshiki T; Nishioka, Kenya K; Motoi, Yumiko Y; Hattori, Nobutaka N; Nakayama, Kazuhiko K; Yamada, Hisashi H; Arai, Heii H

Publication Date: 2016

Variant appearance in text: PSEN2: M239V

PubMed Link: 27065294

Variant Present in the following documents:

• Main text
• dee-0006-0090.pdf

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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: AD4: M239V; rs28936379

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.

European Journal Of Human Genetics : Ejhg

Nicolas, Gaël G; Wallon, David D; Charbonnier, Camille C; Quenez, Olivier O; Rousseau, Stéphane S; Richard, Anne-Claire AC; Rovelet-Lecrux, Anne A; Coutant, Sophie S; Le Guennec, Kilan K; Bacq, Delphine D; Garnier, Jean-Guillaume JG; Olaso, Robert R; Boland, Anne A; Meyer, Vincent V; Deleuze, Jean-François JF; Munter, Hans Markus HM; Bourque, Guillaume G; Auld, Daniel D; Montpetit, Alexandre A; Lathrop, Mark M; Guyant-Maréchal, Lucie L; Martinaud, Olivier O; Pariente, Jérémie J; Rollin-Sillaire, Adeline A; Pasquier, Florence F; Le Ber, Isabelle I; Sarazin, Marie M; Croisile, Bernard B; Boutoleau-Bretonnière, Claire C; Thomas-Antérion, Catherine C; Paquet, Claire C; Sauvée, Mathilde M; Moreaud, Olivier O; Gabelle, Audrey A; Sellal, François F; Ceccaldi, Mathieu M; Chamard, Ludivine L; Blanc, Frédéric F; Frebourg, Thierry T; Campion, Dominique D; Hannequin, Didier D

Publication Date: 2016-05

Variant appearance in text: PSEN2: 715A>G; M239V

PubMed Link: 26242991

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PSEN2: M239V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.

Clinical Interventions In Aging

Cai, Yan Y; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2015

Variant appearance in text: PSEN2: M239V

PubMed Link: 26203236

Variant Present in the following documents:

• Main text
• cia-10-1163.pdf

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Preclinical non-human models to combat dementia.

Annals Of Neurosciences

Banik, Avijit A; Anand, Akshay A

Publication Date: 2013-01

Variant appearance in text: PSEN2: M239V

PubMed Link: 25206006

Variant Present in the following documents:

• Main text

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Altered proteolysis in fibroblasts of Alzheimer patients with predictive implications for subjects at risk of disease.

International Journal Of Alzheimer'S Disease

Mocali, Alessandra A; Della Malva, Nunzia N; Abete, Claudia C; Mitidieri Costanza, Vito Antonio VA; Bavazzano, Antonio A; Boddi, Vieri V; Sanchez, Luis L; Dessì, Sandra S; Pani, Alessandra A; Paoletti, Francesco F

Publication Date: 2014

Variant appearance in text: PS2: Met239Val

PubMed Link: 24949214

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: PSEN2: Met239Val

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: PSEN2: M239V

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

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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: PS2: M239V

PubMed Link: 21357415

Variant Present in the following documents:

• Main text

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Presenilin-2 mutation causes early amyloid accumulation and memory impairment in a transgenic mouse model of Alzheimer's disease.

Journal Of Biomedicine & Biotechnology

Toda, Toshihiko T; Noda, Yoshihiro Y; Ito, Genzo G; Maeda, Masahiro M; Shimizu, Takahiko T

Publication Date: 2011

Variant appearance in text: PS2: M239V

PubMed Link: 21234330

Variant Present in the following documents:

• Main text

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Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.

Brain : A Journal Of Neurology

Jayadev, Suman S; Leverenz, James B JB; Steinbart, Ellen E; Stahl, Justin J; Klunk, William W; Yu, Cheng-En CE; Bird, Thomas D TD

Publication Date: 2010-04

Variant appearance in text: PSEN2: M239V

PubMed Link: 20375137

Variant Present in the following documents:

• Main text

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TRPC channels and their implication in neurological diseases.

Cns & Neurological Disorders Drug Targets

Selvaraj, Senthil S; Sun, Yuyang Y; Singh, Brij B BB

Publication Date: 2010-03

Variant appearance in text: PS2: M239V

PubMed Link: 20201820

Variant Present in the following documents:

• Main text

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Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.

Neurobiology Of Aging

Guerreiro, Rita Joao RJ; Baquero, Miquel M; Blesa, Rafael R; Boada, Mercè M; Brás, Jose Miguel JM; Bullido, Maria J MJ; Calado, Ana A; Crook, Richard R; Ferreira, Carla C; Frank, Ana A; Gómez-Isla, Teresa T; Hernández, Isabel I; Lleó, Alberto A; Machado, Alvaro A; Martínez-Lage, Pablo P; Masdeu, José J; Molina-Porcel, Laura L; Molinuevo, José L JL; Pastor, Pau P; Pérez-Tur, Jordi J; Relvas, Rute R; Oliveira, Catarina Resende CR; Ribeiro, Maria Helena MH; Rogaeva, Ekaterina E; Sa, Alfredo A; Samaranch, Lluís L; Sánchez-Valle, Raquel R; Santana, Isabel I; Tàrraga, Lluís L; Valdivieso, Fernando F; Singleton, Andrew A; Hardy, John J; Clarimón, Jordi J

Publication Date: 2010-05

Variant appearance in text: PSEN2: M239V

PubMed Link: 18667258

Variant Present in the following documents:

• Main text

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Genetics of Alzheimer's disease: a centennial review.

Neurologic Clinics

Ertekin-Taner, Nilüfer N

Publication Date: 2007-08

Variant appearance in text: PSEN2: Met239Val

PubMed Link: 17659183

Variant Present in the following documents:

• Main text

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The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.

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

Shen, Jie J; Kelleher, Raymond J RJ

Publication Date: 2007-01-09

Variant appearance in text: PS2: M239V

PubMed Link: 17197420

Variant Present in the following documents:

• Main text

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Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations.

Cell

Tu, Huiping H; Nelson, Omar O; Bezprozvanny, Arseny A; Wang, Zhengnan Z; Lee, Sheu-Fen SF; Hao, Yi-Heng YH; Serneels, Lutgarde L; De Strooper, Bart B; Yu, Gang G; Bezprozvanny, Ilya I

Publication Date: 2006-09-08

Variant appearance in text: PS2: M239V

PubMed Link: 16959576

Variant Present in the following documents:

• Main text

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Dissociated phenotypes in presenilin transgenic mice define functionally distinct gamma-secretases.

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

Mastrangelo, Peter P; Mathews, Paul M PM; Chishti, M Azhar MA; Schmidt, Stephen D SD; Gu, Yongjun Y; Yang, Jing J; Mazzella, Matthew J MJ; Coomaraswamy, Janaky J; Horne, Patrick P; Strome, Bob B; Pelly, Heather H; Levesque, Georges G; Ebeling, Chris C; Jiang, Ying Y; Nixon, Ralph A RA; Rozmahel, Richard R; Fraser, Paul E PE; St George-Hyslop, Peter P; Carlson, George A GA; Westaway, David D

Publication Date: 2005-06-21

Variant appearance in text: PS2: M239V

PubMed Link: 15951428

Variant Present in the following documents:

• Main text

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Analysis of neurons created from wild-type and Alzheimer's mutation knock-in embryonic stem cells by a highly efficient differentiation protocol.

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

Abe, Yoichiro Y; Kouyama, Keisuke K; Tomita, Taisuke T; Tomita, Yusuke Y; Ban, Norimitsu N; Nawa, Mikiro M; Matsuoka, Masaaki M; Niikura, Takako T; Aiso, Sadakazu S; Kita, Yoshiko Y; Iwatsubo, Takeshi T; Nishimoto, Ikuo I

Publication Date: 2003-09-17

Variant appearance in text: PS2: M239V

PubMed Link: 13679420

Variant Present in the following documents:

• Main text

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High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.

American Journal Of Human Genetics

Finckh, U U; Müller-Thomsen, T T; Mann, U U; Eggers, C C; Marksteiner, J J; Meins, W W; Binetti, G G; Alberici, A A; Hock, C C; Nitsch, R M RM; Gal, A A

Publication Date: 2000-01

Variant appearance in text: PS2: M239V

PubMed Link: 10631141

Variant Present in the following documents:

• Main text

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