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: 344A>G; Tyr115Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.

Frontiers In Aging Neuroscience

Orozco-Barajas, Maribel M; Oropeza-Ruvalcaba, Yulisa Y; Canales-Aguirre, Alejandro A AA; Sánchez-González, Victor J VJ

Publication Date: 2022

Variant appearance in text: PSEN1: Y115C

PubMed Link: 35959289

Variant Present in the following documents:

• Main text
• fnagi-14-860529.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: 344A>G; Tyr115Cys

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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Analysis of Genotype-Phenotype Correlations in Patients With Degenerative Dementia Through the Whole Exome Sequencing.

Frontiers In Aging Neuroscience

Sun, Lin L; Zhang, Jianye J; Su, Ning N; Zhang, Shaowei S; Yan, Feng F; Lin, Xiang X; Yu, Jie J; Li, Wei W; Li, Xia X; Xiao, Shifu S

Publication Date: 2021

Variant appearance in text: PSEN1: Y115C

PubMed Link: 34720994

Variant Present in the following documents:

• Main text
• fnagi-13-745407.pdf

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Mass spectrometry analysis of tau and amyloid-beta in iPSC-derived models of Alzheimer's disease and dementia.

Journal Of Neurochemistry

Arber, Charles C; Alatza, Argyro A; Leckey, Claire A CA; Paterson, Ross W RW; Zetterberg, Henrik H; Wray, Selina S

Publication Date: 2021-10

Variant appearance in text: PSEN1: Y115C

PubMed Link: 33539581

Variant Present in the following documents:

• Main text
• JNC-159-305.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: Y115C

PubMed Link: 32477171

Variant Present in the following documents:

• Main text
• fpsyt-11-00347.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: Y115C

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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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: Y115C

PubMed Link: 31202913

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: Y115C

PubMed Link: 30958120

Variant Present in the following documents:

• Main text
• rsob-9-180177.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: Y115C

PubMed Link: 30590039

Variant Present in the following documents:

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

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Frontotemporal dementia spectrum: first genetic screen in a Greek cohort.

Neurobiology Of Aging

Ramos, Eliana Marisa EM; Koros, Christos C; Dokuru, Deepika Reddy DR; Van Berlo, Victoria V; Kroupis, Christos C; Wojta, Kevin K; Wang, Qing Q; Andronas, Nikolaos N; Matsi, Stavroula S; Beratis, Ion N IN; Huang, Alden Y AY; Lee, Suzee E SE; Bonakis, Anastasios A; Florou-Hatziyiannidou, Chryseis C; Fragkiadaki, Stella S; Kontaxopoulou, Dionysia D; Agiomyrgiannakis, Dimitrios D; Kamtsadeli, Vasiliki V; Tsinia, Niki N; Papastefanopoulou, Vasiliki V; Stamelou, Maria M; Miller, Bruce L BL; Stefanis, Leonidas L; Papatriantafyllou, John D JD; Papageorgiou, Sokratis G SG; Coppola, Giovanni G

Publication Date: 2019-03

Variant appearance in text: PSEN1: Tyr115Cys

PubMed Link: 30528349

Variant Present in the following documents:

• Main text

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Recent Advances: Decoding Alzheimer's Disease With Stem Cells.

Frontiers In Aging Neuroscience

Fang, Yi Y; Gao, Ting T; Zhang, Baorong B; Pu, Jiali J

Publication Date: 2018

Variant appearance in text: PS1: Y115C

PubMed Link: 29623038

Variant Present in the following documents:

• Main text
• fnagi-10-00077.pdf

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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: Y115C

PubMed Link: 28610595

Variant Present in the following documents:

• Main text
• 13195_2017_Article_268.pdf

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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: 344A>G

PubMed Link: 28350801

Variant Present in the following documents:

• Main text
• pmed.1002270.pdf

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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: Y115C

PubMed Link: 27980341

Variant Present in the following documents:

• Main text

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Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database.

Journal Of Neuropathology And Experimental Neurology

Ringman, John M JM; Monsell, Sarah S; Ng, Denise W DW; Zhou, Yan Y; Nguyen, Andy A; Coppola, Giovanni G; Van Berlo, Victoria V; Mendez, Mario F MF; Tung, Spencer S; Weintraub, Sandra S; Mesulam, Marek-Marsel MM; Bigio, Eileen H EH; Gitelman, Darren R DR; Fisher-Hubbard, Amanda O AO; Albin, Roger L RL; Vinters, Harry V HV

Publication Date: 2016-03

Variant appearance in text: PSEN1: Y115C

PubMed Link: 26888304

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: Y115C

PubMed Link: 25921538

Variant Present in the following documents:

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

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Cooperative roles of hydrophilic loop 1 and the C-terminus of presenilin 1 in the substrate-gating mechanism of γ-secretase.

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

Takagi-Niidome, Shizuka S; Sasaki, Tomoki T; Osawa, Satoko S; Sato, Takeshi T; Morishima, Kanan K; Cai, Tetsuo T; Iwatsubo, Takeshi T; Tomita, Taisuke T

Publication Date: 2015-02-11

Variant appearance in text: PS1: Y115C

PubMed Link: 25673856

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: Tyr115Cys

PubMed Link: 25217249

Variant Present in the following documents:

• Main text
• 11910_2014_Article_499.pdf

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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: Tyr115Cys

PubMed Link: 24729694

Variant Present in the following documents:

• Main text

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Subjects harboring presenilin familial Alzheimer's disease mutations exhibit diverse white matter biochemistry alterations.

American Journal Of Neurodegenerative Disease

Roher, Alex E AE; Maarouf, Chera L CL; Malek-Ahmadi, Michael M; Wilson, Jeffrey J; Kokjohn, Tyler A TA; Daugs, Ian D ID; Whiteside, Charisse M CM; Kalback, Walter M WM; Macias, Mimi P MP; Jacobson, Sandra A SA; Sabbagh, Marwan N MN; Ghetti, Bernardino B; Beach, Thomas G TG

Publication Date: 2013

Variant appearance in text: PSEN1: Y115C

PubMed Link: 24093083

Variant Present in the following documents:

• Main text

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Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer's disease.

Brain : A Journal Of Neurology

Ryan, Natalie S NS; Keihaninejad, Shiva S; Shakespeare, Timothy J TJ; Lehmann, Manja M; Crutch, Sebastian J SJ; Malone, Ian B IB; Thornton, John S JS; Mancini, Laura L; Hyare, Harpreet H; Yousry, Tarek T; Ridgway, Gerard R GR; Zhang, Hui H; Modat, Marc M; Alexander, Daniel C DC; Rossor, Martin N MN; Ourselin, Sebastien S; Fox, Nick C NC

Publication Date: 2013-05

Variant appearance in text: PSEN1: Y115C

PubMed Link: 23539189

Variant Present in the following documents:

• Main text
• awt065.pdf

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Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations.

Molecular Neurodegeneration

Maarouf, Chera L CL; Daugs, Ian D ID; Spina, Salvatore S; Vidal, Ruben R; Kokjohn, Tyler A TA; Patton, R Lyle RL; Kalback, Walter M WM; Luehrs, Dean C DC; Walker, Douglas G DG; Castaño, Eduardo M EM; Beach, Thomas G TG; Ghetti, Bernardino B; Roher, Alex E AE

Publication Date: 2008-11-20

Variant appearance in text: PSEN1: Y115C

PubMed Link: 19021905

Variant Present in the following documents:

• Main text
• 1750-1326-3-20.pdf

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