Publications:

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The Role of Peroxiredoxins in Cancer Development.

Biology

Thapa, Pratik P; Jiang, Hong H; Ding, Na N; Hao, Yanning Y; Alshahrani, Aziza A; Wei, Qiou Q

Publication Date: 2023-04-28

Variant appearance in text: PS2: N141I

PubMed Link: 37237480

Variant Present in the following documents:

• Main text
• biology-12-00666.pdf

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Human Cytomegalovirus Induces Significant Structural and Functional Changes in Terminally Differentiated Human Cortical Neurons.

Biorxiv : The Preprint Server For Biology

Adelman, Jacob W JW; Rosas-Rogers, Suzette S; Schumacher, Megan L ML; Mokry, Rebekah L RL; Terhune, Scott S SS; Ebert, Allison D AD

Publication Date: 2023-03-06

Variant appearance in text: PSEN2: N141I

PubMed Link: 36945635

Variant Present in the following documents:

• nihpp-2023.03.03.531045v1.pdf

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[18F]F-DED PET imaging of reactive astrogliosis in neurodegenerative diseases: preclinical proof of concept and first-in-human data.

Journal Of Neuroinflammation

Ballweg, Anna A; Klaus, Carolin C; Vogler, Letizia L; Katzdobler, Sabrina S; Wind, Karin K; Zatcepin, Artem A; Ziegler, Sibylle I SI; Secgin, Birkan B; Eckenweber, Florian F; Bohr, Bernd B; Bernhardt, Alexander A; Fietzek, Urban U; Rauchmann, Boris-Stephan BS; Stoecklein, Sophia S; Quach, Stefanie S; Beyer, Leonie L; Scheifele, Maximilian M; Simmet, Marcel M; Joseph, Emanuel E; Lindner, Simon S; Berg, Isabella I; Koglin, Norman N; Mueller, Andre A; Stephens, Andrew W AW; Bartenstein, Peter P; Tonn, Joerg C JC; Albert, Nathalie L NL; Kümpfel, Tania T; Kerschensteiner, Martin M; Perneczky, Robert R; Levin, Johannes J; Paeger, Lars L; Herms, Jochen J; Brendel, Matthias M

Publication Date: 2023-03-11

Variant appearance in text: PS2: N141I

PubMed Link: 36906584

Variant Present in the following documents:

• Main text
• 12974_2023_Article_2749.pdf

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Co-occurring pathogenic variants in 6q27 associated with dementia spectrum disorders in a Peruvian family.

Frontiers In Molecular Neuroscience

Alvarez, Karla Lucia F KLF; Aguilar-Pineda, Jorge Alberto JA; Ortiz-Manrique, Michelle M MM; Paredes-Calderon, Marluve F MF; Cardenas-Quispe, Bryan C BC; Vera-Lopez, Karin Jannet KJ; Goyzueta-Mamani, Luis D LD; Chavez-Fumagalli, Miguel Angel MA; Davila-Del-Carpio, Gonzalo G; Peralta-Mestas, Antero A; Musolino, Patricia L PL; Lino Cardenas, Christian Lacks CL

Publication Date: 2023

Variant appearance in text: PSEN2: N141I

PubMed Link: 36873109

Variant Present in the following documents:

• Main text
• fnmol-16-1104585.pdf

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BMP4-SMAD1/5/9-RUNX2 pathway activation inhibits neurogenesis and oligodendrogenesis in Alzheimer's patients' iPSCs in senescence-related conditions.

Stem Cell Reports

Nakatsu, Daiki D; Kunishige, Rina R; Taguchi, Yuki Y; Shinozaki-Narikawa, Naeko N; Osaka, Kishiko K; Yokomizo, Kayo K; Ishida, Mami M; Takei, Shunsuke S; Yamasaki, Shoko S; Hagiya, Keita K; Hattori, Kotaro K; Tsukamoto, Tadashi T; Murata, Masayuki M; Kano, Fumi F

Publication Date: 2023-01-30

Variant appearance in text: PSEN2: N141I

PubMed Link: 36764297

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

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ADAMTS4 is involved in the production of the Alzheimer disease amyloid biomarker APP669-711.

Molecular Psychiatry

Matsuzaki, Masaya M; Yokoyama, Miyabishara M; Yoshizawa, Yota Y; Kaneko, Naoki N; Naito, Hiroki H; Kobayashi, Honoka H; Korenaga, Akihito A; Sekiya, Sadanori S; Ikemura, Kentaro K; Opoku, Gabriel G; Hirohata, Satoshi S; Iwamoto, Shinichi S; Tanaka, Koichi K; Tomita, Taisuke T

Publication Date: 2023-02-01

Variant appearance in text: PS2: N141I

PubMed Link: 36721026

Variant Present in the following documents:

• 41380_2023_1946_MOESM1_ESM.pdf

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The neuroimmune axis of Alzheimer's disease.

Genome Medicine

Jorfi, Mehdi M; Maaser-Hecker, Anna A; Tanzi, Rudolph E RE

Publication Date: 2023-01-26

Variant appearance in text: PSEN2: N141I

PubMed Link: 36703235

Variant Present in the following documents:

• 13073_2023_Article_1155.pdf

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Aβ42 oligomer-specific antibody ALZ-201 reduces the neurotoxicity of Alzheimer's disease brain extracts.

Alzheimer'S Research & Therapy

Sandberg, Anders A; Berenjeno-Correa, Ernesto E; Rodriguez, Rosa Crespo RC; Axenhus, Michael M; Weiss, Sophia Schedin SS; Batenburg, Kevin K; Hoozemans, Jeroen J M JJM; Tjernberg, Lars O LO; Scheper, Wiep W

Publication Date: 2022-12-29

Variant appearance in text: AD4: N141I

PubMed Link: 36578089

Variant Present in the following documents:

• 13195_2022_Article_1141.pdf

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Mitochondrial Ca2+ Signaling and Bioenergetics in Alzheimer's Disease.

Biomedicines

Arnst, Nikita N; Redolfi, Nelly N; Lia, Annamaria A; Bedetta, Martina M; Greotti, Elisa E; Pizzo, Paola P

Publication Date: 2022-11-24

Variant appearance in text: PSEN2: N141I

PubMed Link: 36551781

Variant Present in the following documents:

• Main text
• biomedicines-10-03025.pdf

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Lysine-targeting inhibition of amyloid β oligomerization by a green perilla-derived metastable chalcone in vitro and in vivo.

Rsc Chemical Biology

Murakami, Kazuma K; Sakaguchi, Yoshiki Y; Taniwa, Kota K; Izuo, Naotaka N; Hanaki, Mizuho M; Kawase, Taiji T; Hirose, Kenji K; Shimizu, Takahiko T; Irie, Kazuhiro K

Publication Date: 2022-11-30

Variant appearance in text: PS2: N141I

PubMed Link: 36544574

Variant Present in the following documents:

• CB-003-D2CB00194B.pdf

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Notch signaling pathway: a comprehensive prognostic and gene expression profile analysis in breast cancer.

Bmc Cancer

Yousefi, Hassan H; Bahramy, Afshin A; Zafari, Narges N; Delavar, Mahsa Rostamian MR; Nguyen, Khoa K; Haghi, Atousa A; Kandelouei, Tahmineh T; Vittori, Cecilia C; Jazireian, Parham P; Maleki, Sajad S; Imani, Danyal D; Moshksar, Amin A; Bitaraf, Amirreza A; Babashah, Sadegh S

Publication Date: 2022-12-07

Variant appearance in text: PSEN2: N141I

PubMed Link: 36476410

Variant Present in the following documents:

• Main text
• 12885_2022_Article_10383.pdf

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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: Asn141Ile

PubMed Link: 36362122

Variant Present in the following documents:

• Main text
• ijms-23-13331.pdf

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Aβ and tau prions feature in the neuropathogenesis of Down syndrome.

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

Condello, Carlo C; Maxwell, Alison M AM; Castillo, Erika E; Aoyagi, Atsushi A; Graff, Caroline C; Ingelsson, Martin M; Lannfelt, Lars L; Bird, Thomas D TD; Keene, C Dirk CD; Seeley, William W WW; Perl, Daniel P DP; Head, Elizabeth E; Prusiner, Stanley B SB

Publication Date: 2022-11-16

Variant appearance in text: PSEN2: N141I

PubMed Link: 36343257

Variant Present in the following documents:

• pnas.2212954119.sapp.pdf

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APOE ε4-dependent effects on the early amyloid pathology in induced neurons of patients with Alzheimer's disease.

Translational Neurodegeneration

Kim, Hongwon H; Kim, Siyoung S; Cho, Byounggook B; Shin, Jaein J; Kim, Jongpil J

Publication Date: 2022-10-25

Variant appearance in text: PSEN2: ASN141ILE

PubMed Link: 36284363

Variant Present in the following documents:

• Main text
• 40035_2022_Article_319.pdf

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Advances in stromal cell therapy for management of Alzheimer's disease.

Frontiers In Pharmacology

Srivastava, Rashi R; Li, Aidong A; Datta, Tirtharaj T; Jha, Niraj Kumar NK; Talukder, Salehikram S; Jha, Saurabh Kumar SK; Chen, Zhe-Sheng ZS

Publication Date: 2022

Variant appearance in text: PS2: N141I

PubMed Link: 36267273

Variant Present in the following documents:

• Main text
• fphar-13-955401.pdf

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Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Novotny, Brenna C BC; Fernandez, Maria Victoria MV; Wang, Ciyang C; Budde, John P JP; Bergmann, Kristy K; Eteleeb, Abdallah M AM; Bradley, Joseph J; Webster, Carol C; Ebl, Curtis C; Norton, Joanne J; Gentsch, Jen J; Dube, Umber U; Wang, Fengxian F; Morris, John C JC; Bateman, Randall J RJ; Perrin, Richard J RJ; McDade, Eric E; Xiong, Chengjie C; Chhatwal, Jasmeer J; , ; , ; , ; Goate, Alison A; Farlow, Martin M; Schofield, Peter P; Chui, Helena H; Karch, Celeste M CM; Cruchaga, Carlos C; Benitez, Bruno A BA; Harari, Oscar O

Publication Date: 2022-10-17

Variant appearance in text: PSEN2: N141I

PubMed Link: 36251323

Variant Present in the following documents:

• NIHMS1865189-supplement-SUPPORTING_INFORMATION_3.xlsx, sheet 1

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An insight into the iPSCs-derived two-dimensional culture and three-dimensional organoid models for neurodegenerative disorders.

Interface Focus

Bhargava, Anushka A; Sandoval Castellanos, Ana M AM; Shah, Sonali S; Ning, Ke K

Publication Date: 2022-10-06

Variant appearance in text: PS2: N141I

PubMed Link: 35992771

Variant Present in the following documents:

• Main text
• rsfs.2022.0040.pdf

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The use of fibroblasts as a valuable strategy for studying mitochondrial impairment in neurological disorders.

Translational Neurodegeneration

Olesen, Margrethe A MA; Villavicencio-Tejo, Francisca F; Quintanilla, Rodrigo A RA

Publication Date: 2022-07-04

Variant appearance in text: PSEN2: N141I

PubMed Link: 35787292

Variant Present in the following documents:

• Main text
• 40035_2022_Article_308.pdf

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Exploring the Involvement of the Amyloid Precursor Protein A673T Mutation against Amyloid Pathology and Alzheimer's Disease in Relation to Therapeutic Editing Tools.

Pharmaceutics

Stanciu, Gabriela Dumitrita GD; Ababei, Daniela Carmen DC; Rusu, Razvan Nicolae RN; Bild, Veronica V; Tamba, Bogdan-Ionel BI

Publication Date: 2022-06-15

Variant appearance in text: PSEN2: N141I

PubMed Link: 35745842

Variant Present in the following documents:

• pharmaceutics-14-01270.pdf

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CRISPR-Cas9 treatment partially restores amyloid-β 42/40 in human fibroblasts with the Alzheimer's disease PSEN 1 M146L mutation.

Molecular Therapy. Nucleic Acids

Konstantinidis, Evangelos E; Molisak, Agnieszka A; Perrin, Florian F; Streubel-Gallasch, Linn L; Fayad, Sarah S; Kim, Daniel Y DY; Petri, Karl K; Aryee, Martin J MJ; Aguilar, Ximena X; György, Bence B; Giedraitis, Vilmantas V; Joung, J Keith JK; Pattanayak, Vikram V; Essand, Magnus M; Erlandsson, Anna A; Berezovska, Oksana O; Ingelsson, Martin M

Publication Date: 2022-06-14

Variant appearance in text: PSEN2: N141I

PubMed Link: 35505961

Variant Present in the following documents:

• Main text
• main.pdf
• mmc2.pdf

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Presenilin 2 N141I mutation induces hyperactive immune response through the epigenetic repression of REV-ERBα.

Nature Communications

Nam, Hyeri H; Lee, Younghwan Y; Kim, Boil B; Lee, Ji-Won JW; Hwang, Seohyeon S; An, Hyun-Kyu HK; Chung, Kyung Min KM; Park, Youngjin Y; Hong, Jihyun J; Kim, Kyungjin K; Kim, Eun-Kyoung EK; Choe, Han Kyoung HK; Yu, Seong-Woon SW

Publication Date: 2022-04-13

Variant appearance in text: PSEN2: N141I

PubMed Link: 35418126

Variant Present in the following documents:

• Main text
• 41467_2022_Article_29653.pdf
• 41467_2022_29653_MOESM1_ESM.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: N141I

PubMed Link: 35365805

Variant Present in the following documents:

• 41380_2022_Article_1518.pdf

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Applications of 3D Bioprinting Technology in Induced Pluripotent Stem Cells-Based Tissue Engineering.

Micromachines

Shukla, Arvind Kumar AK; Gao, Ge G; Kim, Byoung Soo BS

Publication Date: 2022-01-20

Variant appearance in text: PSEN2: N141I

PubMed Link: 35208280

Variant Present in the following documents:

• Main text
• micromachines-13-00155.pdf

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Interaction of Mitochondrial Calcium and ROS in Neurodegeneration.

Cells

Baev, Artyom Y AY; Vinokurov, Andrey Y AY; Novikova, Irina N IN; Dremin, Viktor V VV; Potapova, Elena V EV; Abramov, Andrey Y AY

Publication Date: 2022-02-17

Variant appearance in text: PS2: N141I

PubMed Link: 35203354

Variant Present in the following documents:

• Main text
• cells-11-00706.pdf

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Human iPSC-Derived Neural Models for Studying Alzheimer's Disease: from Neural Stem Cells to Cerebral Organoids.

Stem Cell Reviews And Reports

Barak, Martin M; Fedorova, Veronika V; Pospisilova, Veronika V; Raska, Jan J; Vochyanova, Simona S; Sedmik, Jiri J; Hribkova, Hana H; Klimova, Hana H; Vanova, Tereza T; Bohaciakova, Dasa D

Publication Date: 2022-02

Variant appearance in text: PSEN2: N141I

PubMed Link: 35107767

Variant Present in the following documents:

• 12015_2021_Article_10254.pdf

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Accelerated Aging Characterizes the Early Stage of Alzheimer's Disease.

Cells

Leparulo, Alessandro A; Bisio, Marta M; Redolfi, Nelly N; Pozzan, Tullio T; Vassanelli, Stefano S; Fasolato, Cristina C

Publication Date: 2022-01-11

Variant appearance in text: PS2: N141I

PubMed Link: 35053352

Variant Present in the following documents:

• Main text

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Application of CRISPR/Cas9 in Alzheimer's Disease.

Frontiers In Neuroscience

Lu, Likui L; Yu, Xi X; Cai, Yongle Y; Sun, Miao M; Yang, Hao H

Publication Date: 2021

Variant appearance in text: PSEN2: N141I

PubMed Link: 34992519

Variant Present in the following documents:

• Main text
• fnins-15-803894.pdf

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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: Asn141Ile

PubMed Link: 34881055

Variant Present in the following documents:

• Main text
• bri2021-9542038.pdf

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Gene Editing and Alzheimer's Disease: Is There Light at the End of the Tunnel?

Frontiers In Genome Editing

Stepanichev, Mikhail M

Publication Date: 2020

Variant appearance in text: PSEN2: N141I

PubMed Link: 34713213

Variant Present in the following documents:

• Main text
• fgeed-02-00004.pdf

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CRISPR/Cas9 revitalizes adoptive T-cell therapy for cancer immunotherapy.

Journal Of Experimental & Clinical Cancer Research : Cr

Ghaffari, Sasan S; Khalili, Nastaran N; Rezaei, Nima N

Publication Date: 2021-08-26

Variant appearance in text: PSEN2: N141I

PubMed Link: 34446084

Variant Present in the following documents:

• 13046_2021_Article_2076.pdf

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Effects of Mild Excitotoxic Stimulus on Mitochondria Ca2+ Handling in Hippocampal Cultures of a Mouse Model of Alzheimer's Disease.

Cells

Rigotto, Giulia G; Zentilin, Lorena L; Pozzan, Tullio T; Basso, Emy E

Publication Date: 2021-08-10

Variant appearance in text: PS2: N141I

PubMed Link: 34440815

Variant Present in the following documents:

• Main text

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Loosening ER-Mitochondria Coupling by the Expression of the Presenilin 2 Loop Domain.

Cells

Rossini, Michela M; García-Casas, Paloma P; Filadi, Riccardo R; Pizzo, Paola P

Publication Date: 2021-08-03

Variant appearance in text: PS2: N141I

PubMed Link: 34440738

Variant Present in the following documents:

• Main text

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A Novel Probable Pathogenic PSEN2 Mutation p.Phe369Ser Associated With Early-Onset Alzheimer's Disease in a Chinese Han Family: A Case Report.

Frontiers In Aging Neuroscience

Wan, Ke K; Ma, Zhen-Juan ZJ; Zhou, Xia X; Zhang, Yi-Mei YM; Yu, Xian-Feng XF; You, Meng-Zhe MZ; Huang, Chao-Juan CJ; Zhang, Wei W; Sun, Zhong-Wu ZW

Publication Date: 2021

Variant appearance in text: PSEN2: N141I

PubMed Link: 34366829

Variant Present in the following documents:

• Main text
• fnagi-13-710075.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: PSEN2: Asn141Ile

PubMed Link: 34331941

Variant Present in the following documents:

• Main text
• main.pdf

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Genetically engineered MAPT 10+16 mutation causes pathophysiological excitability of human iPSC-derived neurons related to 4R tau-induced dementia.

Cell Death & Disease

Kopach, Olga O; Esteras, Noemí N; Wray, Selina S; Abramov, Andrey Y AY; Rusakov, Dmitri A DA

Publication Date: 2021-07-17

Variant appearance in text: PSEN2: N141I

PubMed Link: 34274950

Variant Present in the following documents:

• 41419_2021_Article_4007.pdf

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In-Frame and Frameshift Mutations in Zebrafish Presenilin 2 Affect Different Cellular Functions in Young Adult Brains.

Journal Of Alzheimer'S Disease Reports

Barthelson, Karissa K; Pederson, Stephen Martin SM; Newman, Morgan M; Jiang, Haowei H; Lardelli, Michael M

Publication Date: 2021-05-04

Variant appearance in text: PSEN2: N141I

PubMed Link: 34189411

Variant Present in the following documents:

• Main text
• adr-5-adr200279.pdf

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Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer's Disease on the Orthosteric Site.

Frontiers In Molecular Biosciences

Soto-Ospina, Alejandro A; Araque Marín, Pedronel P; Bedoya, Gabriel G; Sepulveda-Falla, Diego D; Villegas Lanau, Andrés A

Publication Date: 2021

Variant appearance in text: PSEN2: N141I

PubMed Link: 34150846

Variant Present in the following documents:

• Main text

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The Potential of Induced Pluripotent Stem Cells to Treat and Model Alzheimer's Disease.

Stem Cells International

Schulz, Joseph M JM

Publication Date: 2021

Variant appearance in text: PSEN2: N141I

PubMed Link: 34122554

Variant Present in the following documents:

• Main text
• SCI2021-5511630.pdf

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Mitochondrial Ca2+ Signaling in Health, Disease and Therapy.

Cells

Modesti, Lorenzo L; Danese, Alberto A; Angela Maria Vitto, Veronica V; Ramaccini, Daniela D; Aguiari, Gianluca G; Gafà, Roberta R; Lanza, Giovanni G; Giorgi, Carlotta C; Pinton, Paolo P

Publication Date: 2021-05-25

Variant appearance in text: PS2: N141I

PubMed Link: 34070562

Variant Present in the following documents:

• Main text

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Alzheimer's Disease and Epilepsy: A Perspective on the Opportunities for Overlapping Therapeutic Innovation.

Neurochemical Research

Lehmann, Leanne L; Lo, Alexandria A; Knox, Kevin M KM; Barker-Haliski, Melissa M

Publication Date: 2021-08

Variant appearance in text: PSEN2: N141I

PubMed Link: 33929683

Variant Present in the following documents:

• Main text

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