Publications:

---

Complexity of Sex Differences and Their Impact on Alzheimer's Disease.

Biomedicines

Kadlecova, Marion M; Freude, Kristine K; Haukedal, Henriette H

Publication Date: 2023-04-24

Variant appearance in text: PSEN1: E280A

PubMed Link: 37238932

Variant Present in the following documents:

• biomedicines-11-01261.pdf

View BVdb publication page

---

Tau accumulation in autosomal dominant Alzheimer's disease: a longitudinal [18F]flortaucipir study.

Alzheimer'S Research & Therapy

O'Connor, Antoinette A; Cash, David M DM; Poole, Teresa T; Markiewicz, Pawel J PJ; Fraser, Maggie R MR; Malone, Ian B IB; Jiao, Jieqing J; Weston, Philip S J PSJ; Flores, Shaney S; Hornbeck, Russ R; McDade, Eric E; Schöll, Michael M; Gordon, Brian A BA; Bateman, Randall J RJ; Benzinger, Tammie L S TLS; Fox, Nick C NC

Publication Date: 2023-05-25

Variant appearance in text: PSEN1: E280A

PubMed Link: 37231491

Variant Present in the following documents:

• Main text
• 13195_2023_Article_1234.pdf

View BVdb publication page

---

Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man.

Nature Medicine

Lopera, Francisco F; Marino, Claudia C; Chandrahas, Anita S AS; O'Hare, Michael M; Villalba-Moreno, Nelson David ND; Aguillon, David D; Baena, Ana A; Sanchez, Justin S JS; Vila-Castelar, Clara C; Ramirez Gomez, Liliana L; Chmielewska, Natalia N; Oliveira, Gabriel M GM; Littau, Jessica Lisa JL; Hartmann, Kristin K; Park, Kyungeun K; Krasemann, Susanne S; Glatzel, Markus M; Schoemaker, Dorothee D; Gonzalez-Buendia, Lucia L; Delgado-Tirado, Santiago S; Arevalo-Alquichire, Said S; Saez-Torres, Kahira L KL; Amarnani, Dhanesh D; Kim, Leo A LA; Mazzarino, Randall C RC; Gordon, Harper H; Bocanegra, Yamile Y; Villegas, Andres A; Gai, Xiaowu X; Bootwalla, Moiz M; Ji, Jianling J; Shen, Lishuang L; Kosik, Kenneth S KS; Su, Yi Y; Chen, Yinghua Y; Schultz, Aaron A; Sperling, Reisa A RA; Johnson, Keith K; Reiman, Eric M EM; Sepulveda-Falla, Diego D; Arboleda-Velasquez, Joseph F JF; Quiroz, Yakeel T YT

Publication Date: 2023-05-15

Variant appearance in text: PSEN1: E280A

PubMed Link: 37188781

Variant Present in the following documents:

• Main text
• 41591_2023_2318_MOESM2_ESM.pdf
• 41591_2023_Article_2318.pdf
• 41591_2023_2318_MOESM1_ESM.pdf

View BVdb publication page

---

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: Glu280Ala

PubMed Link: 37176125

Variant Present in the following documents:

• Main text
• ijms-24-08417.pdf

View BVdb publication page

---

Identification of fecal microbiome signatures associated with familial longevity and candidate metabolites for healthy aging.

Aging Cell

Gong, Junli J; Liu, Sanxin S; Wang, Shisi S; Ruan, Hengfang H; Mou, Qianqian Q; Fan, Ping P; Chen, Tao T; Cai, Wei W; Lu, Yongjun Y; Lu, Zhengqi Z

Publication Date: 2023-05-02

Variant appearance in text: PSEN1: E280A

PubMed Link: 37132117

Variant Present in the following documents:

• ACEL-22-e13848.pdf

View BVdb publication page

---

CSF tau phosphorylation occupancies at T217 and T205 represent improved biomarkers of amyloid and tau pathology in Alzheimer's disease.

Nature Aging

Barthélemy, Nicolas R NR; Saef, Benjamin B; Li, Yan Y; Gordon, Brian A BA; He, Yingxin Y; Horie, Kanta K; Stomrud, Erik E; Salvadó, Gemma G; Janelidze, Shorena S; Sato, Chihiro C; Ovod, Vitaliy V; Henson, Rachel L RL; Fagan, Anne M AM; Benzinger, Tammie L S TLS; Xiong, Chengjie C; Morris, John C JC; Hansson, Oskar O; Bateman, Randall J RJ; Schindler, Suzanne E SE

Publication Date: 2023-04

Variant appearance in text: PS1: E280A

PubMed Link: 37117788

Variant Present in the following documents:

• 43587_2023_Article_380.pdf

View BVdb publication page

---

Tau in cerebrospinal fluid induces neuronal hyperexcitability and alters hippocampal theta oscillations.

Acta Neuropathologica Communications

Brown, Jessica J; Camporesi, Elena E; Lantero-Rodriguez, Juan J; Olsson, Maria M; Wang, Alice A; Medem, Blanca B; Zetterberg, Henrik H; Blennow, Kaj K; Karikari, Thomas K TK; Wall, Mark M; Hill, Emily E

Publication Date: 2023-04-24

Variant appearance in text: PSEN1: E280A

PubMed Link: 37095572

Variant Present in the following documents:

• 40478_2023_Article_1562.pdf

View BVdb publication page

---

Neuronal Hyperactivation in EEG Data during Cognitive Tasks Is Related to the Apolipoprotein J/Clusterin Genotype in Nondemented Adults.

International Journal Of Molecular Sciences

Ponomareva, Natalya V NV; Andreeva, Tatiana V TV; Protasova, Maria S MS; Kunizheva, Svetlana S SS; Kuznetsova, Irina L IL; Kolesnikova, Ekaterina P EP; Malina, Daria D DD; Mitrofanov, Andrey A AA; Fokin, Vitaly F VF; Illarioshkin, Sergey N SN; Rogaev, Evgeny I EI

Publication Date: 2023-04-05

Variant appearance in text: PSEN1: E280A

PubMed Link: 37047762

Variant Present in the following documents:

• Main text
• ijms-24-06790.pdf

View BVdb publication page

---

The Amyloid Cascade Hypothesis in Alzheimer's Disease: Should We Change Our Thinking?

Biomolecules

Kurkinen, Markku M; Fułek, Michał M; Fułek, Katarzyna K; Beszłej, Jan Aleksander JA; Kurpas, Donata D; Leszek, Jerzy J

Publication Date: 2023-03-01

Variant appearance in text: PS1: E280A

PubMed Link: 36979388

Variant Present in the following documents:

• Main text
• biomolecules-13-00453.pdf

View BVdb publication page

---

Memory for Semantically Related Objects Differentiates Cognitively Unimpaired Autosomal Dominant Mutation Carriers from Non-Carrier Family Members.

The Journal Of Prevention Of Alzheimer'S Disease

Fox-Fuller, J T JT; Martinez, J E JE; Baena, A A; Londono, N N; Munera, D D; Noriega, D D; Vila-Castelar, C C; Aduen, P A PA; Lopera, F F; Cronin-Golomb, A A; Quiroz, Y T YT

Publication Date: 2023

Variant appearance in text: PSEN1: E280A

PubMed Link: 36946459

Variant Present in the following documents:

• Main text
• 42414_2023_Article_14.pdf

View BVdb publication page

---

Evidence against altered excitatory/inhibitory balance in the posteromedial cortex of young adult APOE E4 carriers: A resting state 1H-MRS study.

Neuroimage. Reports

Costigan, A G AG; Umla-Runge, K K; Evans, C J CJ; Raybould, R R; Graham, K S KS; Lawrence, A D AD

Publication Date: 2021-12

Variant appearance in text: PSEN1: E280A

PubMed Link: 36896169

Variant Present in the following documents:

• main.pdf

View BVdb publication page

---

Metal-Organic Frameworks as Sensors for Human Amyloid Diseases.

Acs Sensors

Leite, José P JP; Figueira, Flávio F; Mendes, Ricardo F RF; Almeida Paz, Filipe A FA; Gales, Luís L

Publication Date: 2023-03-09

Variant appearance in text: PSEN1: E280A

PubMed Link: 36892002

Variant Present in the following documents:

• Main text
• se2c02741.pdf

View BVdb publication page

---

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: PSEN1: E280A

PubMed Link: 36873109

Variant Present in the following documents:

• Main text
• fnmol-16-1104585.pdf

View BVdb publication page

---

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: 839A>C; Glu280Ala

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Current Peptide Vaccine and Immunotherapy Approaches Against Alzheimer's Disease.

Peptide Science (Hoboken, N.J.)

Parrocha, Chelsea Marie T CMT; Nowick, James S JS

Publication Date: 2023-01

Variant appearance in text: PSEN1: E280A

PubMed Link: 36778914

Variant Present in the following documents:

• PEP2-115-0.pdf

View BVdb publication page

---

Investigational treatments for neurodegenerative diseases caused by inheritance of gene mutations: lessons from recent clinical trials.

Neural Regeneration Research

Imbimbo, Bruno P BP; Triaca, Viviana V; Imbimbo, Camillo C; Nisticò, Robert R

Publication Date: 2023-08

Variant appearance in text: PS1: Glu280Ala

PubMed Link: 36751779

Variant Present in the following documents:

• Main text
• NRR-18-1679.pdf

View BVdb publication page

---

Spastic Paraplegia and Cognitive Impairment Due to a De Novo Pathogenic Variant in Presenilin-1.

Movement Disorders Clinical Practice

Muñoz, Esteban E; Jodar, Meritxell M; Guerrero, Jairo J; Compta, Yaroslau Y; Perissinotti, Andrés A; Álvarez-Mora, Maria I MI; Falgàs, Neus N; Rodríguez-Revenga, Laia L; Sánchez-Valle, Raquel R

Publication Date: 2023-01

Variant appearance in text: PSEN1: E280A

PubMed Link: 36699002

Variant Present in the following documents:

• MDC3-10-148.pdf

View BVdb publication page

---

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: PSEN1: E280A

PubMed Link: 36551781

Variant Present in the following documents:

• Main text
• biomedicines-10-03025.pdf

View BVdb publication page

---

Abstract: 15th Conference Clinical Trials Alzheimer's Disease, November 29- December 2, 2022, San Francisco , USA: Symposia - Oral Communications - Late Breaking News.

The Journal Of Prevention Of Alzheimer'S Disease

Publication Date: 2022

Variant appearance in text: PSEN1: E280A

PubMed Link: 36471007

Variant Present in the following documents:

• Main text
• 42414_2022_Article_96.pdf

View BVdb publication page

---

ApoE in Alzheimer's disease: pathophysiology and therapeutic strategies.

Molecular Neurodegeneration

Raulin, Ana-Caroline AC; Doss, Sydney V SV; Trottier, Zachary A ZA; Ikezu, Tadafumi C TC; Bu, Guojun G; Liu, Chia-Chen CC

Publication Date: 2022-11-08

Variant appearance in text: PSEN1: E280A

PubMed Link: 36348357

Variant Present in the following documents:

• Main text
• 13024_2022_Article_574.pdf

View BVdb publication page

---

Mixed Pathologies in a Subject with a Novel PSEN1 G206R Mutation.

Journal Of Alzheimer'S Disease : Jad

Libard, Sylwia S; Giedraitis, Vilmantas V; Kilander, Lena L; Ingelsson, Martin M; Alafuzoff, Irina I

Publication Date: 2022-10-22

Variant appearance in text: PS1: E280A

PubMed Link: 36314207

Variant Present in the following documents:

• Main text
• jad-90-jad220655.pdf

View BVdb publication page

---

Disease stages and therapeutic hypotheses in two decades of neurodegenerative disease clinical trials.

Scientific Reports

Mortberg, Meredith A MA; Vallabh, Sonia M SM; Minikel, Eric Vallabh EV

Publication Date: 2022-10-21

Variant appearance in text: PSEN1: E280A

PubMed Link: 36271285

Variant Present in the following documents:

• 41598_2022_Article_21820.pdf

View BVdb publication page

---

Gliovascular alterations in sporadic and familial Alzheimer's disease: APOE3 Christchurch homozygote glioprotection.

Brain Pathology (Zurich, Switzerland)

Henao-Restrepo, Julián J; López-Murillo, Carolina C; Valderrama-Carmona, Pablo P; Orozco-Santa, Natalia N; Gomez, Johana J; Gutiérrez-Vargas, Johanna J; Moraga, Renato R; Toledo, Jorge J; Littau, Jessica Lisa JL; Härtel, Steffen S; Arboleda-Velásquez, Joseph F JF; Sepulveda-Falla, Diego D; Lopera, Francisco F; Cardona-Gómez, Gloria Patricia GP; Villegas, Andrés A; Posada-Duque, Rafael R

Publication Date: 2022-09-21

Variant appearance in text: PSEN1: E280A

PubMed Link: 36130084

Variant Present in the following documents:

• Main text
• BPA-33-e13119.pdf

View BVdb publication page

---

Evaluating the Safety and Efficacy of Crenezumab vs Placebo in Adults With Early Alzheimer Disease: Two Phase 3 Randomized Placebo-Controlled Trials.

Jama Neurology

Ostrowitzki, Susanne S; Bittner, Tobias T; Sink, Kaycee M KM; Mackey, Howard H; Rabe, Christina C; Honig, Lawrence S LS; Cassetta, Emanuele E; Woodward, Michael M; Boada, Mercè M; van Dyck, Christopher H CH; Grimmer, Timo T; Selkoe, Dennis J DJ; Schneider, Andres A; Blondeau, Kathleen K; Hu, Nan N; Quartino, Angelica A; Clayton, David D; Dolton, Michael M; Dang, Yifan Y; Ostaszewski, Beth B; Sanabria-Bohórquez, Sandra M SM; Rabbia, Michael M; Toth, Balazs B; Eichenlaub, Udo U; Smith, Jillian J; Honigberg, Lee A LA; Doody, Rachelle S RS

Publication Date: 2022-11-01

Variant appearance in text: PSEN1: E280A

PubMed Link: 36121669

Variant Present in the following documents:

• jamaneurol-e222909-s001.pdf

View BVdb publication page

---

A multi-expert ensemble system for predicting Alzheimer transition using clinical features.

Brain Informatics

Merone, Mario M; D'Addario, Sebastian Luca SL; Mirino, Pierandrea P; Bertino, Francesca F; Guariglia, Cecilia C; Ventura, Rossella R; Capirchio, Adriano A; Baldassarre, Gianluca G; Silvetti, Massimo M; Caligiore, Daniele D

Publication Date: 2022-09-03

Variant appearance in text: PSEN1: E280A

PubMed Link: 36056985

Variant Present in the following documents:

• 40708_2022_Article_168.pdf

View BVdb publication page

---

APOE ε4 influences cognitive decline positively in APP and negatively in PSEN1 mutation carriers with autosomal-dominant Alzheimer's disease.

European Journal Of Neurology

Almkvist, Ove O; Johansson, Charlotte C; Laffita-Mesa, Jose J; Thordardottir, Steinunn S; Graff, Caroline C

Publication Date: 2022-12

Variant appearance in text: PSEN1: E280A

PubMed Link: 36039401

Variant Present in the following documents:

• Main text
• ENE-29-3580.pdf

View BVdb publication page

---

A locus at 19q13.31 significantly reduces the ApoE ε4 risk for Alzheimer's Disease in African Ancestry.

Plos Genetics

Rajabli, Farid F; Beecham, Gary W GW; Hendrie, Hugh C HC; Baiyewu, Olusegun O; Ogunniyi, Adesola A; Gao, Sujuan S; Kushch, Nicholas A NA; Lipkin-Vasquez, Marina M; Hamilton-Nelson, Kara L KL; Young, Juan I JI; Dykxhoorn, Derek M DM; Nuytemans, Karen K; Kunkle, Brian W BW; Wang, Liyong L; Jin, Fulai F; Liu, Xiaoxiao X; Feliciano-Astacio, Briseida E BE; , ; Schellenberg, Gerard D GD; Dalgard, Clifton L CL; Griswold, Anthony J AJ; Byrd, Goldie S GS; Reitz, Christiane C; Cuccaro, Michael L ML; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA; Vance, Jeffery M JM

Publication Date: 2022-07

Variant appearance in text: PS1: E280A

PubMed Link: 35788729

Variant Present in the following documents:

• pgen.1009977.pdf

View BVdb publication page

---

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.

Genome Medicine

Schramm, Catherine C; Charbonnier, Camille C; Zaréa, Aline A; Lacour, Morgane M; Wallon, David D; , ; Boland, Anne A; Deleuze, Jean-François JF; Olaso, Robert R; , ; Alarcon, Flora F; Campion, Dominique D; Nuel, Grégory G; Nicolas, Gaël G

Publication Date: 2022-06-28

Variant appearance in text: PSEN1: E280A

PubMed Link: 35761418

Variant Present in the following documents:

• Main text
• 13073_2022_Article_1070.pdf

View BVdb publication page

---

Evidence of beta amyloid independent small vessel disease in familial Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)

Littau, Jessica Lisa JL; Velilla, Lina L; Hase, Yoshiki Y; Villalba-Moreno, Nelson David ND; Hagel, Christian C; Drexler, Dagmar D; Osorio Restrepo, Santiago S; Villegas, Andres A; Lopera, Francisco F; Vargas, Sergio S; Glatzel, Markus M; Krasemann, Susanne S; Quiroz, Yakeel T YT; Arboleda-Velasquez, Joseph F JF; Kalaria, Rajesh R; Sepulveda-Falla, Diego D

Publication Date: 2022-11

Variant appearance in text: PSEN1: Glu280Ala

PubMed Link: 35695802

Variant Present in the following documents:

• Main text
• BPA-32-e13097.pdf

View BVdb publication page

---

Genetics of Alzheimer's disease: an East Asian perspective.

Journal Of Human Genetics

Miyashita, Akinori A; Kikuchi, Masataka M; Hara, Norikazu N; Ikeuchi, Takeshi T

Publication Date: 2022-06-01

Variant appearance in text: PSEN1: E280A

PubMed Link: 35641666

Variant Present in the following documents:

• Main text
• 10038_2022_Article_1050.pdf

View BVdb publication page

---

Side-by-side comparison of Notch- and C83 binding to γ-secretase in a complete membrane model at physiological temperature.

Rsc Advances

Dehury, Budheswar B; Tang, Ning N; Mehra, Rukmankesh R; Blundell, Tom L TL; Kepp, Kasper P KP

Publication Date: 2020-08-21

Variant appearance in text: PS1: E280A

PubMed Link: 35520661

Variant Present in the following documents:

• Main text
• RA-010-D0RA04683C.pdf

View BVdb publication page

---

Meaningful benefits: a framework to assess disease-modifying therapies in preclinical and early Alzheimer's disease.

Alzheimer'S Research & Therapy

Assunção, Sheila Seleri SS; Sperling, Reisa A RA; Ritchie, Craig C; Kerwin, Diana R DR; Aisen, Paul S PS; Lansdall, Claire C; Atri, Alireza A; Cummings, Jeffrey J

Publication Date: 2022-04-19

Variant appearance in text: PSEN1: E280A

PubMed Link: 35440022

Variant Present in the following documents:

• 13195_2022_Article_984.pdf

View BVdb publication page

---

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: 839A>C; Glu280Ala

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4
• pcbi.1010013.s002.xlsx, sheet 2

View BVdb publication page

---

Role of Cholinergic Signaling in Alzheimer's Disease.

Molecules (Basel, Switzerland)

Chen, Zhi-Ru ZR; Huang, Jia-Bao JB; Yang, Shu-Long SL; Hong, Fen-Fang FF

Publication Date: 2022-03-10

Variant appearance in text: PSEN1: E280A

PubMed Link: 35335180

Variant Present in the following documents:

• Main text
• molecules-27-01816.pdf

View BVdb publication page

---

A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Genome Medicine

Acosta-Uribe, Juliana J; Aguillón, David D; Cochran, J Nicholas JN; Giraldo, Margarita M; Madrigal, Lucía L; Killingsworth, Bradley W BW; Singhal, Rijul R; Labib, Sarah S; Alzate, Diana D; Velilla, Lina L; Moreno, Sonia S; García, Gloria P GP; Saldarriaga, Amanda A; Piedrahita, Francisco F; Hincapié, Liliana L; López, Hugo E HE; Perumal, Nithesh N; Morelo, Leonilde L; Vallejo, Dionis D; Solano, Juan Marcos JM; Reiman, Eric M EM; Surace, Ezequiel I EI; Itzcovich, Tatiana T; Allegri, Ricardo R; Sánchez-Valle, Raquel R; Villegas-Lanau, Andrés A; White, Charles L CL; Matallana, Diana D; Myers, Richard M RM; Browning, Sharon R SR; Lopera, Francisco F; Kosik, Kenneth S KS

Publication Date: 2022-03-08

Variant appearance in text: PSEN1: 839A>C; Glu280Ala; rs63750231

PubMed Link: 35260199

Variant Present in the following documents:

• 13073_2022_1035_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

---

Neurodegeneration and convergent factors contributing to the deterioration of the cytoskeleton in Alzheimer's disease, cerebral ischemia and multiple sclerosis (Review).

Biomedical Reports

Gutiérrez-Vargas, Johanna Andrea JA; Castro-Álvarez, John Fredy JF; Zapata-Berruecos, Jose Fernando JF; Abdul-Rahim, Komal K; Arteaga-Noriega, Anibal A

Publication Date: 2022-04

Variant appearance in text: PSEN1: E280A

PubMed Link: 35251614

Variant Present in the following documents:

• Main text
• br-16-04-01510.pdf

View BVdb publication page

---

Protein phosphatase 2A and complement component 4 are linked to the protective effect of APOE ɛ2 for Alzheimer's disease.

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

Jun, Gyungah R GR; You, Yang Y; Zhu, Congcong C; Meng, Gaoyuan G; Chung, Jaeyoon J; Panitch, Rebecca R; Hu, Junming J; Xia, Weiming W; , ; Bennett, David A DA; Foroud, Tatiana M TM; Wang, Li-San LS; Haines, Jonathan L JL; Mayeux, Richard R; Pericak-Vance, Margaret A MA; Schellenberg, Gerard D GD; Au, Rhoda R; Lunetta, Kathryn L KL; Ikezu, Tsuneya T; Stein, Thor D TD; Farrer, Lindsay A LA

Publication Date: 2022-11

Variant appearance in text: PSEN1: E280A

PubMed Link: 35142023

Variant Present in the following documents:

• Main text
• ALZ-18-2042.pdf

View BVdb publication page

---

Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Molecular Neurodegeneration

Khani, Marzieh M; Gibbons, Elizabeth E; Bras, Jose J; Guerreiro, Rita R

Publication Date: 2022-01-09

Variant appearance in text: PSEN1: Glu280Ala

PubMed Link: 35000612

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Molecular Neurodegeneration

Khani, Marzieh M; Gibbons, Elizabeth E; Bras, Jose J; Guerreiro, Rita R

Publication Date: 2022-01-09

Variant appearance in text: PSEN1: Glu280Ala

PubMed Link: 35000612

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: PS1: E280A

PubMed Link: 34948396

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: PS1: E280A

PubMed Link: 34948396

Variant Present in the following documents:

• Main text

View BVdb publication page

---

(-)-Epigallocatechin-3-Gallate Diminishes Intra-and Extracellular Amyloid-Induced Cytotoxic Effects on Cholinergic-like Neurons from Familial Alzheimer's Disease PSEN1 E280A.

Biomolecules

Soto-Mercado, Viviana V; Mendivil-Perez, Miguel M; Velez-Pardo, Carlos C; Jimenez-Del-Rio, Marlene M

Publication Date: 2021-12-08

Variant appearance in text: PSEN1: Glu280Ala

PubMed Link: 34944489

Variant Present in the following documents:

• Main text
• biomolecules-11-01845.pdf

View BVdb publication page

---

(-)-Epigallocatechin-3-Gallate Diminishes Intra-and Extracellular Amyloid-Induced Cytotoxic Effects on Cholinergic-like Neurons from Familial Alzheimer's Disease PSEN1 E280A.

Biomolecules

Soto-Mercado, Viviana V; Mendivil-Perez, Miguel M; Velez-Pardo, Carlos C; Jimenez-Del-Rio, Marlene M

Publication Date: 2021-12-08

Variant appearance in text: PSEN1: Glu280Ala

PubMed Link: 34944489

Variant Present in the following documents:

• Main text
• biomolecules-11-01845.pdf

View BVdb publication page

---