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: Arg278Ile

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: 833G>T; Arg278Ile

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: R278I

PubMed Link: 36687397

Variant Present in the following documents:

• Main text
• fcac321.pdf

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Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.

Translational Psychiatry

Kakuda, Nobuto N; Takami, Mako M; Okochi, Masayasu M; Kasuga, Kensaku K; Ihara, Yasuo Y; Ikeuchi, Takeshi T

Publication Date: 2021-11-03

Variant appearance in text: PS1: R278I

PubMed Link: 34728605

Variant Present in the following documents:

• Main text
• 41398_2021_Article_1684.pdf

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Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.

Translational Psychiatry

Kakuda, Nobuto N; Takami, Mako M; Okochi, Masayasu M; Kasuga, Kensaku K; Ihara, Yasuo Y; Ikeuchi, Takeshi T

Publication Date: 2021-11-03

Variant appearance in text: PS1: R278I

PubMed Link: 34728605

Variant Present in the following documents:

• Main text
• 41398_2021_Article_1684.pdf

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Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

The American Journal Of Pathology

Kalaria, Rajesh N RN; Sepulveda-Falla, Diego D

Publication Date: 2021-11

Variant appearance in text: PSEN1: Arg278Ile

PubMed Link: 34331941

Variant Present in the following documents:

• Main text
• main.pdf

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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: R278I

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: R278I

PubMed Link: 34319632

Variant Present in the following documents:

• Main text
• BPA-32-e13009.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: R278I

PubMed Link: 34073182

Variant Present in the following documents:

• Main text
• biosensors-11-00169.pdf

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Plasma amyloid-β ratios in autosomal dominant Alzheimer's disease: the influence of genotype.

Brain : A Journal Of Neurology

O'Connor, Antoinette A; Pannee, Josef J; Poole, Teresa T; Arber, Charles C; Portelius, Erik E; Swift, Imogen J IJ; Heslegrave, Amanda J AJ; Abel, Emily E; Willumsen, Nanet N; Rice, Helen H; Weston, Philip S J PSJ; Ryan, Natalie S NS; Polke, James M JM; Nicholas, Jennifer M JM; Mead, Simon S; Wray, Selina S; Chávez-Gutiérrez, Lucía L; Frost, Chris C; Blennow, Kaj K; Zetterberg, Henrik H; Fox, Nick C NC

Publication Date: 2021-11-29

Variant appearance in text: PSEN1: R278I

PubMed Link: 33892504

Variant Present in the following documents:

• Main text

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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: R278I

PubMed Link: 33440141

Variant Present in the following documents:

• Main text
• mmc1.pdf
• mmc3.pdf

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Rodent Models of Amyloid-Beta Feature of Alzheimer's Disease: Development and Potential Treatment Implications.

Aging And Disease

Poon, Chi Him CH; Wang, Yingyi Y; Fung, Man-Lung ML; Zhang, Chengfei C; Lim, Lee Wei LW

Publication Date: 2020-10

Variant appearance in text: PS1: R278I

PubMed Link: 33014535

Variant Present in the following documents:

• Main text

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Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

Alzheimer'S Research & Therapy

Perrone, Federica F; Bjerke, Maria M; Hens, Elisabeth E; Sieben, Anne A; Timmers, Maarten M; De Roeck, Arne A; Vandenberghe, Rik R; Sleegers, Kristel K; Martin, Jean-Jacques JJ; De Deyn, Peter P PP; Engelborghs, Sebastiaan S; van der Zee, Julie J; Van Broeckhoven, Christine C; Cacace, Rita R; ,

Publication Date: 2020-09-11

Variant appearance in text: PSEN1: R278I

PubMed Link: 32917274

Variant Present in the following documents:

• Main text
• 13195_2020_Article_676.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: R278I

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: R278I

PubMed Link: 32477171

Variant Present in the following documents:

• Main text
• fpsyt-11-00347.pdf

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Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.

Frontiers In Neurology

You, Chunlin C; Zeng, Weike W; Deng, Lingna L; Lei, Zhihao Z; Gao, Xinyi X; Zhang, Victor Wei VW; Wang, Yidong Y

Publication Date: 2020

Variant appearance in text: PSEN1: R278I

PubMed Link: 32431660

Variant Present in the following documents:

• fneur-11-00319.pdf

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Investigation of pathology, expression and proteomic profiles in human TREM2 variant postmortem brains with and without Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)

Toomey, Christina E CE; Heywood, Wendy W; Benson, Bridget C BC; Packham, Georgia G; Mills, Kevin K; Lashley, Tammaryn T

Publication Date: 2020-07

Variant appearance in text: PSEN1: R278I

PubMed Link: 32267026

Variant Present in the following documents:

• Main text

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The R278I Mutation of PSEN1 in the Familial Alzheimer Disease.

Dementia And Neurocognitive Disorders

Kim, Jong Hun JH; Choi, Seong Hye SH; Lee, Jun Hong JH

Publication Date: 2020-03

Variant appearance in text: PSEN1: Arg278Ile

PubMed Link: 32174048

Variant Present in the following documents:

• Main text
• dnd-19-33.pdf

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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: R278I

PubMed Link: 31762188

Variant Present in the following documents:

• Main text
• EMBR-21-e47996-s010.pdf
• EMBR-21-e47996.pdf
• EMBR-21-e47996-s008.pdf
• EMBR-21-e47996-s001.pdf
• EMBR-21-e47996-s005.pdf
• EMBR-21-e47996-s002.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: R278I

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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Individual and combined presenilin 1 and 2 knockouts reveal that both have highly overlapping functions in HEK293T cells.

The Journal Of Biological Chemistry

Lessard, Christian B CB; Rodriguez, Edgardo E; Ladd, Thomas B TB; Minter, Lisa M LM; Osborne, Barbara A BA; Miele, Lucio L; Golde, Todd E TE; Ran, Yong Y

Publication Date: 2019-07-19

Variant appearance in text: PS1: R278I

PubMed Link: 31167792

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: R278I

PubMed Link: 30980041

Variant Present in the following documents:

• Main text

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The intact postsynaptic protein neurogranin is reduced in brain tissue from patients with familial and sporadic Alzheimer's disease.

Acta Neuropathologica

Kvartsberg, Hlin H; Lashley, Tammaryn T; Murray, Christina E CE; Brinkmalm, Gunnar G; Cullen, Nicholas C NC; Höglund, Kina K; Zetterberg, Henrik H; Blennow, Kaj K; Portelius, Erik E

Publication Date: 2019-01

Variant appearance in text: PSEN1: R278I

PubMed Link: 30244311

Variant Present in the following documents:

• Main text

View BVdb publication page

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The presubiculum is preserved from neurodegenerative changes in Alzheimer's disease.

Acta Neuropathologica Communications

Murray, Christina E CE; Gami-Patel, Priya P; Gkanatsiou, Eleni E; Brinkmalm, Gunnar G; Portelius, Erik E; Wirths, Oliver O; Heywood, Wendy W; Blennow, Kaj K; Ghiso, Jorge J; Holton, Janice L JL; Mills, Kevin K; Zetterberg, Henrik H; Revesz, Tamas T; Lashley, Tammaryn T

Publication Date: 2018-07-20

Variant appearance in text: PS1: R278I

PubMed Link: 30029687

Variant Present in the following documents:

• Main text
• 40478_2018_Article_563.pdf

View BVdb publication page

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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: R278I

PubMed Link: 29208777

Variant Present in the following documents:

• Main text
• JEM_20170600.pdf

View BVdb publication page

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Untangling Genetic Risk for Alzheimer's Disease.

Biological Psychiatry

Pimenova, Anna A AA; Raj, Towfique T; Goate, Alison M AM

Publication Date: 2018-02-15

Variant appearance in text: PSEN1: R278I

PubMed Link: 28666525

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: PS1: R278I

PubMed Link: 28072821

Variant Present in the following documents:

• pone.0169509.pdf

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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: PS1: R278I

PubMed Link: 27810638

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of FRM-36143 as a new γ-secretase modulator for the potential treatment of familial Alzheimer's disease.

Alzheimer'S Research & Therapy

Blain, Jean-François JF; Bursavich, Matthew G MG; Freeman, Emily A EA; Hrdlicka, Lori A LA; Hodgdon, Hilliary E HE; Chen, Ting T; Costa, Don E DE; Harrison, Bryce A BA; Kapadnis, Sudarshan S; Murphy, Deirdre A DA; Nolan, Scott S; Tu, Zhiming Z; Tang, Cuyue C; Burnett, Duane A DA; Patzke, Holger H; Koenig, Gerhard G

Publication Date: 2016-08-30

Variant appearance in text: PS1: R278I

PubMed Link: 27572246

Variant Present in the following documents:

• Main text
• 13195_2016_Article_199.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: PS1: R278I

PubMed Link: 27100200

Variant Present in the following documents:

• Main text

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Generation and deposition of Aβ43 by the virtually inactive presenilin-1 L435F mutant contradicts the presenilin loss-of-function hypothesis of Alzheimer's disease.

Embo Molecular Medicine

Kretner, Benedikt B; Trambauer, Johannes J; Fukumori, Akio A; Mielke, Janina J; Kuhn, Peer-Hendrik PH; Kremmer, Elisabeth E; Giese, Armin A; Lichtenthaler, Stefan F SF; Haass, Christian C; Arzberger, Thomas T; Steiner, Harald H

Publication Date: 2016-05

Variant appearance in text: PS1: R278I

PubMed Link: 26988102

Variant Present in the following documents:

• Main text
• EMMM-8-458.pdf
• EMMM-8-458-s006.pdf

View BVdb publication page

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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

Variant appearance in text: PSEN1: R278I

PubMed Link: 26481686

Variant Present in the following documents:

• Main text
• JEM_20150892.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: Arg278Ile

PubMed Link: 25217249

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Arg278Ile

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

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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: R278I

PubMed Link: 24377094

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: R278I

PubMed Link: 23843529

Variant Present in the following documents:

• Main text

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The presenilin 1 P264L mutation presenting as non-fluent/agrammatic primary progressive aphasia.

Journal Of Alzheimer'S Disease : Jad

Mahoney, Colin J CJ; Downey, Laura E LE; Beck, Jon J; Liang, Yuying Y; Mead, Simon S; Perry, Richard J RJ; Warren, Jason D JD

Publication Date: 2013

Variant appearance in text: PSEN1: R278I

PubMed Link: 23579325

Variant Present in the following documents:

• Main text

View BVdb publication page

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Differential regulation of amyloid precursor protein/presenilin 1 interaction during Aβ40/42 [corrected] production detected using fusion constructs.

Plos One

Sato, Naoyuki N; Okochi, Masayasu M; Shinohara, Mitsuru M; Thinakaran, Gopal G; Takeda, Shuko S; Fukumori, Akio A; Shinohara-Noma, Motoko M; Mori-Ueda, Mari M; Hamada, Hizuki H; Takeda, Masatoshi M; Rakugi, Hiromi H; Morishita, Ryuichi R

Publication Date: 2012

Variant appearance in text: PS1: R278I

PubMed Link: 23152781

Variant Present in the following documents:

• Main text
• pone.0048551.pdf

View BVdb publication page

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Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.

Plos One

Wray, Selina S; Self, Matthew M; , ; , ; , ; Lewis, Patrick A PA; Taanman, Jan-Willem JW; Ryan, Natalie S NS; Mahoney, Colin J CJ; Liang, Yuying Y; Devine, Michael J MJ; Sheerin, Una-Marie UM; Houlden, Henry H; Morris, Huw R HR; Healy, Daniel D; Marti-Masso, Jose-Felix JF; Preza, Elisavet E; Barker, Suzanne S; Sutherland, Margaret M; Corriveau, Roderick A RA; D'Andrea, Michael M; Schapira, Anthony H V AH; Uitti, Ryan J RJ; Guttman, Mark M; Opala, Grzegorz G; Jasinska-Myga, Barbara B; Puschmann, Andreas A; Nilsson, Christer C; Espay, Alberto J AJ; Slawek, Jaroslaw J; Gutmann, Ludwig L; Boeve, Bradley F BF; Boylan, Kevin K; Stoessl, A Jon AJ; Ross, Owen A OA; Maragakis, Nicholas J NJ; Van Gerpen, Jay J; Gerstenhaber, Melissa M; Gwinn, Katrina K; Dawson, Ted M TM; Isacson, Ole O; Marder, Karen S KS; Clark, Lorraine N LN; Przedborski, Serge E SE; Finkbeiner, Steven S; Rothstein, Jeffrey D JD; Wszolek, Zbigniew K ZK; Rossor, Martin N MN; Hardy, John J

Publication Date: 2012

Variant appearance in text: PSEN1: R278I

PubMed Link: 22952635

Variant Present in the following documents:

• Main text

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