Publications:

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Presenilin 1 Modulates Acetylcholinesterase Trafficking and Maturation.

International Journal Of Molecular Sciences

Cortés-Gómez, María-Ángeles MÁ; Barberá, Víctor M VM; Alom, Jordi J; Sáez-Valero, Javier J; García-Ayllón, María-Salud MS

Publication Date: 2023-01-11

Variant appearance in text: PS1: V89L

PubMed Link: 36674948

Variant Present in the following documents:

• Main text
• ijms-24-01437.pdf

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Patient-Derived Fibroblasts With Presenilin-1 Mutations, That Model Aspects of Alzheimer's Disease Pathology, Constitute a Potential Object for Early Diagnosis.

Frontiers In Aging Neuroscience

Lopez-Toledo, Gustavo G; Silva-Lucero, Maria-Del-Carmen MD; Herrera-Díaz, Jorge J; García, David-Erasmo DE; Arias-Montaño, José-Antonio JA; Cardenas-Aguayo, Maria-Del-Carmen MD

Publication Date: 2022

Variant appearance in text: PS1: V89L

PubMed Link: 35847683

Variant Present in the following documents:

• Main text
• fnagi-14-921573.pdf

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Genetic landscape of early-onset dementia in Hungary.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology

Csaban, Dora D; Illes, Anett A; Renata, Toth-Bencsik TB; Balicza, Peter P; Pentelenyi, Klara K; Molnar, Viktor V; Gezsi, Andras A; Grosz, Zoltan Z; Gal, Aniko A; Kovacs, Tibor T; Klivenyi, Peter P; Molnar, Maria Judit MJ

Publication Date: 2022-09

Variant appearance in text: PSEN1: 265G>C; V89L

PubMed Link: 35752680

Variant Present in the following documents:

• Main text
• 10072_2022_Article_6168.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: V89L

PubMed Link: 35365805

Variant Present in the following documents:

• Main text
• 41380_2022_Article_1518.pdf

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Detection and Functional Evaluation of the P2X7 Receptor in hiPSC Derived Neurons and Microglia-Like Cells.

Frontiers In Molecular Neuroscience

Francistiová, Linda L; Vörös, Kinga K; Lovász, Zsófia Z; Dinnyés, András A; Kobolák, Julianna J

Publication Date: 2021

Variant appearance in text: PSEN1: Val89Leu

PubMed Link: 35095416

Variant Present in the following documents:

• Main text
• fnmol-14-793769.pdf

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Live-Cell Imaging of Single Neurotrophin Receptor Molecules on Human Neurons in Alzheimer's Disease.

International Journal Of Molecular Sciences

Barabás, Klaudia K; Kobolák, Julianna J; Godó, Soma S; Kovács, Tamás T; Ernszt, Dávid D; Kecskés, Miklós M; Varga, Csaba C; Jánosi, Tibor Z TZ; Fujiwara, Takahiro T; Kusumi, Akihiro A; Téglási, Annamária A; Dinnyés, András A; Ábrahám, István M IM

Publication Date: 2021-12-09

Variant appearance in text: PSEN1: 265G>C; V89L

PubMed Link: 34948057

Variant Present in the following documents:

• Main text
• ijms-22-13260.pdf

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Live-Cell Imaging of Single Neurotrophin Receptor Molecules on Human Neurons in Alzheimer's Disease.

International Journal Of Molecular Sciences

Barabás, Klaudia K; Kobolák, Julianna J; Godó, Soma S; Kovács, Tamás T; Ernszt, Dávid D; Kecskés, Miklós M; Varga, Csaba C; Jánosi, Tibor Z TZ; Fujiwara, Takahiro T; Kusumi, Akihiro A; Téglási, Annamária A; Dinnyés, András A; Ábrahám, István M IM

Publication Date: 2021-12-09

Variant appearance in text: PSEN1: 265G>C; V89L

PubMed Link: 34948057

Variant Present in the following documents:

• Main text
• ijms-22-13260.pdf

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A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.

Brain Sciences

Bagyinszky, Eva E; Ch'ng, Gaik-Siew GS; Chan, Mei-Yan MY; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2021-10-08

Variant appearance in text: PSEN1: V89L

PubMed Link: 34679393

Variant Present in the following documents:

• Main text
• brainsci-11-01328.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: Val89Leu

PubMed Link: 34331941

Variant Present in the following documents:

• Main text
• main.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: V89L

PubMed Link: 34100423

Variant Present in the following documents:

• Main text
• NRR-17-31.pdf

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Brain-derived neurotrophic factor increases cell number of neural progenitor cells derived from human induced pluripotent stem cells.

Peerj

Pansri, Panetha P; Phanthong, Phetcharat P; Suthprasertporn, Nopparat N; Kitiyanant, Yindee Y; Tubsuwan, Alisa A; Dinnyes, Andras A; Kobolak, Julianna J; Kitiyanant, Narisorn N

Publication Date: 2021

Variant appearance in text: PSEN1: V89L

PubMed Link: 34026357

Variant Present in the following documents:

• Main text
• peerj-09-11388.pdf

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Microglial Hyperreactivity Evolved to Immunosuppression in the Hippocampus of a Mouse Model of Accelerated Aging and Alzheimer's Disease Traits.

Frontiers In Aging Neuroscience

Molina-Martínez, Patricia P; Corpas, Rubén R; García-Lara, Elisa E; Cosín-Tomás, Marta M; Cristòfol, Rosa R; Kaliman, Perla P; Solà, Carme C; Molinuevo, José Luis JL; Sánchez-Valle, Raquel R; Antonell, Anna A; Lladó, Albert A; Sanfeliu, Coral C

Publication Date: 2020

Variant appearance in text: PSEN1: V89L

PubMed Link: 33584248

Variant Present in the following documents:

• Main text
• fnagi-12-622360.pdf

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Dedifferentiation and neuronal repression define familial Alzheimer's disease.

Science Advances

Caldwell, Andrew B AB; Liu, Qing Q; Schroth, Gary P GP; Galasko, Douglas R DR; Yuan, Shauna H SH; Wagner, Steven L SL; Subramaniam, Shankar S

Publication Date: 2020-11

Variant appearance in text: PSEN1: V89L

PubMed Link: 33188013

Variant Present in the following documents:

• Main text

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Dedifferentiation and neuronal repression define familial Alzheimer's disease.

Science Advances

Caldwell, Andrew B AB; Liu, Qing Q; Schroth, Gary P GP; Galasko, Douglas R DR; Yuan, Shauna H SH; Wagner, Steven L SL; Subramaniam, Shankar S

Publication Date: 2020-11

Variant appearance in text: PSEN1: V89L

PubMed Link: 33188013

Variant Present in the following documents:

• Main text

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Using human induced pluripotent stem cells (hiPSCs) to investigate the mechanisms by which Apolipoprotein E (APOE) contributes to Alzheimer's disease (AD) risk.

Neurobiology Of Disease

Raman, Sreedevi S; Brookhouser, Nicholas N; Brafman, David A DA

Publication Date: 2020-05

Variant appearance in text: PSEN1: V89L

PubMed Link: 32032733

Variant Present in the following documents:

• Main text

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Calcilytic NPS 2143 Reduces Amyloid Secretion and Increases sAβPPα Release from PSEN1 Mutant iPSC-Derived Neurons.

Journal Of Alzheimer'S Disease : Jad

Lo Giudice, Maria M; Mihalik, Balázs B; Turi, Zsófia Z; Dinnyés, András A; Kobolák, Julianna J

Publication Date: 2019

Variant appearance in text: PSEN1: Val89Leu

PubMed Link: 31640098

Variant Present in the following documents:

• Main text
• jad-72-jad190602.pdf

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Modeling Alzheimer's disease with iPSC-derived brain cells.

Molecular Psychiatry

Penney, Jay J; Ralvenius, William T WT; Tsai, Li-Huei LH

Publication Date: 2020-01

Variant appearance in text: PSEN1: V89L

PubMed Link: 31391546

Variant Present in the following documents:

• Main text

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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: V89L

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: V89L

PubMed Link: 31202913

Variant Present in the following documents:

• Main text

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Extracellular interface between APP and Nicastrin regulates Aβ length and response to γ-secretase modulators.

The Embo Journal

Petit, Dieter D; Hitzenberger, Manuel M; Lismont, Sam S; Zoltowska, Katarzyna Marta KM; Ryan, Natalie S NS; Mercken, Marc M; Bischoff, François F; Zacharias, Martin M; Chávez-Gutiérrez, Lucía L

Publication Date: 2019-06-17

Variant appearance in text: PSEN1: V89L

PubMed Link: 31109937

Variant Present in the following documents:

• Main text
• EMBJ-38-e101494.pdf
• EMBJ-38-e101494-s001.pdf

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Nanoscale structure of amyloid-β plaques in Alzheimer's disease.

Scientific Reports

Querol-Vilaseca, Marta M; Colom-Cadena, Martí M; Pegueroles, Jordi J; Nuñez-Llaves, Raúl R; Luque-Cabecerans, Joan J; Muñoz-Llahuna, Laia L; Andilla, Jordi J; Belbin, Olivia O; Spires-Jones, Tara L TL; Gelpi, Ellen E; Clarimon, Jordi J; Loza-Alvarez, Pablo P; Fortea, Juan J; Lleó, Alberto A

Publication Date: 2019-03-26

Variant appearance in text: PSEN1: V89L

PubMed Link: 30914681

Variant Present in the following documents:

• 41598_2019_41443_MOESM2_ESM.pdf

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Neurons derived from sporadic Alzheimer's disease iPSCs reveal elevated TAU hyperphosphorylation, increased amyloid levels, and GSK3B activation.

Alzheimer'S Research & Therapy

Ochalek, Anna A; Mihalik, Balázs B; Avci, Hasan X HX; Chandrasekaran, Abinaya A; Téglási, Annamária A; Bock, István I; Giudice, Maria Lo ML; Táncos, Zsuzsanna Z; Molnár, Kinga K; László, Lajos L; Nielsen, Jørgen E JE; Holst, Bjørn B; Freude, Kristine K; Hyttel, Poul P; Kobolák, Julianna J; Dinnyés, András A

Publication Date: 2017-12-01

Variant appearance in text: PSEN1: 265G>C; V89L

PubMed Link: 29191219

Variant Present in the following documents:

• Main text
• 13195_2017_Article_317.pdf

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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: V89L

PubMed Link: 26481686

Variant Present in the following documents:

• Main text
• JEM_20150892.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: PS1: V89L

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: V89L

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

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Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease.

Acta Neuropathologica

Pera, Marta M; Alcolea, Daniel D; Sánchez-Valle, Raquel R; Guardia-Laguarta, Cristina C; Colom-Cadena, Martí M; Badiola, Nahuai N; Suárez-Calvet, Marc M; Lladó, Albert A; Barrera-Ocampo, Alvaro A AA; Sepulveda-Falla, Diego D; Blesa, Rafael R; Molinuevo, José L JL; Clarimón, Jordi J; Ferrer, Isidre I; Gelpi, Ellen E; Lleó, Alberto A

Publication Date: 2013-02

Variant appearance in text: PSEN1: V89L

PubMed Link: 23224319

Variant Present in the following documents:

• Main text
• 401_2012_Article_1062.pdf

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Presenilin 1 interacts with acetylcholinesterase and alters its enzymatic activity and glycosylation.

Molecular And Cellular Biology

Silveyra, María-Ximena MX; Evin, Geneviève G; Montenegro, María-Fernanda MF; Vidal, Cecilio J CJ; Martínez, Salvador S; Culvenor, Janetta G JG; Sáez-Valero, Javier J

Publication Date: 2008-05

Variant appearance in text: N/A

PubMed Link: 18299393

Variant Present in the following documents:

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Effects of formalin fixation, paraffin embedding, and time of storage on DNA preservation in brain tissue: a BrainNet Europe study.

Brain Pathology (Zurich, Switzerland)

Ferrer, Isidre I; Armstrong, Judith J; Capellari, Sabina S; Parchi, Piero P; Arzberger, Thomas T; Bell, Jeanne J; Budka, Herbert H; Ströbel, Thomas T; Giaccone, Giorgio G; Rossi, Giacomina G; Bogdanovic, Nenad N; Fakai, Peter P; Schmitt, Andrea A; Riederers, Peter P; Al-Sarraj, Safa S; Ravid, Rivka R; Kretzschmar, Hans H

Publication Date: 2007-07

Variant appearance in text: PSEN1: V89L

PubMed Link: 17465988

Variant Present in the following documents:

• Main text

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