Publications:

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Different transmembrane domains determine the specificity and efficiency of the cleavage activity of the γ-secretase subunit presenilin.

The Journal Of Biological Chemistry

Schmidt, FabianC F; Fitz, Katja K; Feilen, LukasP L; Okochi, Masayasu M; Steiner, Harald H; Langosch, Dieter D

Publication Date: 2023-03-19

Variant appearance in text: PS1: L435F

PubMed Link: 36944398

Variant Present in the following documents:

• main.pdf

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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: L435F

PubMed Link: 36687397

Variant Present in the following documents:

• Main text
• fcac321.pdf

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Late-long-term potentiation magnitude, but not Aβ levels and amyloid pathology, is associated with behavioral performance in a rat knock-in model of Alzheimer disease.

Frontiers In Aging Neuroscience

Yesiltepe, Metin M; Yin, Tao T; Tambini, Marc D MD; Breuillaud, Lionel L; Zehntner, Simone P SP; D'Adamio, Luciano L

Publication Date: 2022

Variant appearance in text: PSEN1: L435F

PubMed Link: 36438008

Variant Present in the following documents:

• fnagi-14-1040576.pdf

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Towards a Mechanistic Model of Tau-Mediated Pathology in Tauopathies: What Can We Learn from Cell-Based In Vitro Assays?

International Journal Of Molecular Sciences

Sala-Jarque, Julia J; Zimkowska, Karolina K; Ávila, Jesús J; Ferrer, Isidro I; Del Río, José Antonio JA

Publication Date: 2022-09-29

Variant appearance in text: PSEN1: L435F

PubMed Link: 36232835

Variant Present in the following documents:

• Main text
• ijms-23-11527.pdf

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Enzyme-substrate interface targeting by imidazole-based γ-secretase modulators activates γ-secretase and stabilizes its interaction with APP.

The Embo Journal

Petit, Dieter D; Hitzenberger, Manuel M; Koch, Matthias M; Lismont, Sam S; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Hopf, Carsten C; Zacharias, Martin M; Chávez-Gutiérrez, Lucía L

Publication Date: 2022-11-02

Variant appearance in text: PSEN1: L435F

PubMed Link: 36121025

Variant Present in the following documents:

• EMBJ-41-e111084.pdf

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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: L435F

PubMed Link: 35965317

Variant Present in the following documents:

• Main text
• 13578_2022_Article_874.pdf

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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: L435F

PubMed Link: 35959289

Variant Present in the following documents:

• Main text
• fnagi-14-860529.pdf

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Initial assessment of the spatial learning, reversal, and sequencing task capabilities of knock-in rats with humanizing mutations in the Aβ-coding region of App.

Plos One

Pham, Hoa H; Yin, Tao T; D'Adamio, Luciano L

Publication Date: 2022

Variant appearance in text: PSEN1: L435F

PubMed Link: 35507596

Variant Present in the following documents:

• Main text
• pone.0263546.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: L435F

PubMed Link: 35449212

Variant Present in the following documents:

• Main text
• 41418_2022_Article_1003.pdf

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The relationship of early- and late-onset Alzheimer's disease genes with COVID-19.

Journal Of Neural Transmission (Vienna, Austria : 1996)

Sirin, Seda S; Nigdelioglu Dolanbay, Serap S; Aslim, Belma B

Publication Date: 2022-07

Variant appearance in text: PSEN1: L435F

PubMed Link: 35429259

Variant Present in the following documents:

• 702_2022_Article_2499.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: PSEN1: L435F

PubMed Link: 35365805

Variant Present in the following documents:

• Main text
• 41380_2022_Article_1518.pdf

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Alzheimer's disease - the journey of a healthy brain into organ failure.

Molecular Neurodegeneration

Golde, Todd E TE

Publication Date: 2022-03-05

Variant appearance in text: S182: L435F

PubMed Link: 35248124

Variant Present in the following documents:

• 13024_2022_Article_523.pdf

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Loss of presenilin function enhances tau phosphorylation and aggregation in mice.

Acta Neuropathologica Communications

Soto-Faguás, Carlos M CM; Sanchez-Molina, Paula P; Saura, Carlos A CA

Publication Date: 2021-09-30

Variant appearance in text: PSEN1: L435F

PubMed Link: 34593029

Variant Present in the following documents:

• Main text

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A familial Danish dementia rat shows impaired presynaptic and postsynaptic glutamatergic transmission.

The Journal Of Biological Chemistry

Yin, Tao T; Yao, Wen W; Norris, Kelly A KA; D'Adamio, Luciano L

Publication Date: 2021-09

Variant appearance in text: PSEN1: L435F

PubMed Link: 34416235

Variant Present in the following documents:

• 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: L435F

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: L435F

PubMed Link: 34073182

Variant Present in the following documents:

• Main text
• biosensors-11-00169.pdf

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Continuous Monitoring of Tau-Induced Neurotoxicity in Patient-Derived iPSC-Neurons.

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

Oakley, Derek H DH; Klickstein, Naomi N; Commins, Caitlin C; Chung, Mirra M; Dujardin, Simon S; Bennett, Rachel E RE; Hyman, Bradley T BT; Frosch, Matthew P MP

Publication Date: 2021-05-12

Variant appearance in text: PSEN1: 1303C>T; L435F

PubMed Link: 33893219

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: PSEN1: L435F

PubMed Link: 33853652

Variant Present in the following documents:

• Main text
• 13073_2021_Article_878.pdf

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Can Anti-β-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?

Neurology. Genetics

Imbimbo, Bruno P BP; Lucca, Ugo U; Watling, Mark M

Publication Date: 2021-02

Variant appearance in text: PSEN1: L435F

PubMed Link: 33575481

Variant Present in the following documents:

• NG2020014183.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: L435F

PubMed Link: 33302541

Variant Present in the following documents:

• Main text
• molecules-25-05789.pdf

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Modeling the β-secretase cleavage site and humanizing amyloid-beta precursor protein in rat and mouse to study Alzheimer's disease.

Molecular Neurodegeneration

Serneels, Lutgarde L; T'Syen, Dries D; Perez-Benito, Laura L; Theys, Tom T; Holt, Matthew G MG; De Strooper, Bart B

Publication Date: 2020-10-19

Variant appearance in text: PSEN1: L435F

PubMed Link: 33076948

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: L435F

PubMed Link: 32917274

Variant Present in the following documents:

• Main text
• 13195_2020_Article_676.pdf

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The Alzheimer Disease-Causing Presenilin-1 L435F Mutation Causes Increased Production of Soluble Aβ43 Species in Patient-Derived iPSC-Neurons, Closely Mimicking Matched Patient Brain Tissue.

Journal Of Neuropathology And Experimental Neurology

Oakley, Derek H DH; Chung, Mirra M; Klickstein, Naomi N; Commins, Caitlin C; Hyman, Bradley T BT; Frosch, Matthew P MP

Publication Date: 2020-06-01

Variant appearance in text: PSEN1: 1303C>T; L435F

PubMed Link: 32388561

Variant Present in the following documents:

• Main text

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Knock-in rats with homozygous PSEN1 Alzheimer mutation are viable and show selective γ-secretase activity loss causing low Aβ40/42 and high Aβ43.

The Journal Of Biological Chemistry

Tambini, Marc D MD; D'Adamio, Luciano L

Publication Date: 2020-05-22

Variant appearance in text: PS1: L435F

PubMed Link: 32265300

Variant Present in the following documents:

• Main text
• zbc7442.pdf

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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: L435F

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: L435F

PubMed Link: 31762188

Variant Present in the following documents:

• Main text
• EMBR-21-e47996-s010.pdf
• EMBR-21-e47996-s005.pdf
• EMBR-21-e47996-s008.pdf
• EMBR-21-e47996.pdf
• EMBR-21-e47996-s001.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: L435F

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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Making the final cut: pathogenic amyloid-β peptide generation by γ-secretase.

Cell Stress

Steiner, Harald H; Fukumori, Akio A; Tagami, Shinji S; Okochi, Masayasu M

Publication Date: 2018-10-28

Variant appearance in text: PS1: L435F

PubMed Link: 31225454

Variant Present in the following documents:

• Main text
• ces-02-292.pdf

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Structure and Function of the γ-Secretase Complex.

Biochemistry

Wolfe, Michael S MS

Publication Date: 2019-07-09

Variant appearance in text: PSEN1: L435F

PubMed Link: 31198028

Variant Present in the following documents:

• Main text

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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: L435F

PubMed Link: 29628304

Variant Present in the following documents:

• Main text

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A key role for MAM in mediating mitochondrial dysfunction in Alzheimer disease.

Cell Death & Disease

Area-Gomez, Estela E; de Groof, Ad A; Bonilla, Eduardo E; Montesinos, Jorge J; Tanji, Kurenai K; Boldogh, Istvan I; Pon, Liza L; Schon, Eric A EA

Publication Date: 2018-02-28

Variant appearance in text: PSEN1: L435F

PubMed Link: 29491396

Variant Present in the following documents:

• 41419_2017_Article_215.pdf

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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: L435F

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: L435F

PubMed Link: 29142009

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: L435F

PubMed Link: 29078389

Variant Present in the following documents:

• Main text
• pnas.201713605.pdf

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Monoamine oxidase B is elevated in Alzheimer disease neurons, is associated with γ-secretase and regulates neuronal amyloid β-peptide levels.

Alzheimer'S Research & Therapy

Schedin-Weiss, Sophia S; Inoue, Mitsuhiro M; Hromadkova, Lenka L; Teranishi, Yasuhiro Y; Yamamoto, Natsuko Goto NG; Wiehager, Birgitta B; Bogdanovic, Nenad N; Winblad, Bengt B; Sandebring-Matton, Anna A; Frykman, Susanne S; Tjernberg, Lars O LO

Publication Date: 2017-08-01

Variant appearance in text: PS1: L435F

PubMed Link: 28764767

Variant Present in the following documents:

• 13195_2017_Article_279.pdf

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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: L435F

PubMed Link: 28666525

Variant Present in the following documents:

• Main text

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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: L435F

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: L435F

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: L435F

PubMed Link: 27785004

Variant Present in the following documents:

• Main text

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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: PSEN1: L435F

PubMed Link: 27572246

Variant Present in the following documents:

• 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: PSEN1: L435F

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: L435F

PubMed Link: 26988102

Variant Present in the following documents:

• Main text

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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: L435F

PubMed Link: 26939744

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: L435F

PubMed Link: 26888304

Variant Present in the following documents:

• Main text

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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: L435F

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: L435F

PubMed Link: 26477700

Variant Present in the following documents:

• Main text

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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: L435F

PubMed Link: 26098332

Variant Present in the following documents:

• Main text

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Analyzing dendritic spine pathology in Alzheimer's disease: problems and opportunities.

Acta Neuropathologica

Dorostkar, Mario M MM; Zou, Chengyu C; Blazquez-Llorca, Lidia L; Herms, Jochen J

Publication Date: 2015-07

Variant appearance in text: PS1: L435F

PubMed Link: 26063233

Variant Present in the following documents:

• Main text
• 401_2015_Article_1449.pdf

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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: L435F

PubMed Link: 25741723

Variant Present in the following documents:

• Main text

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