PSEN1 c.1292C>A ;(p.A431E)

Variant ID: 14-73685885-C-A

NM_000021.3(PSEN1):c.1292C>A;(p.A431E)

This variant was identified in 75 publications

View GRCh38 version.




Publications:


Perceptions of Knowledge, Disease Impact and Predictive Genetic Testing in Family Members at Risk to Develop Early-Onset Alzheimer's Disease (EOAD) and Their Levels of Suicidal Ideation: A Mixed Study.

Brain Sciences
Reyes-Domínguez, Yesica Arlae YA; Figuera, Luis E LE; Brambila-Tapia, Aniel Jessica Leticia AJL
Publication Date: 2023-03-16

Variant appearance in text: PSEN1: A431E
PubMed Link: 36979311
Variant Present in the following documents:
  • Main text
  • brainsci-13-00501.pdf
View BVdb publication page



Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.

Brain Communications
Ringman, John M JM; Dorrani, Naghmeh N; Fernández, Sara Gutiérrez SG; Signer, Rebecca R; Martinez-Agosto, Julian J; Lee, Hane H; Douine, Emilie D ED; Qiao, Yuchuan Y; Shi, Yonggang Y; D'Orazio, Lina L; Pawar, Sanjay S; Robbie, Leah L; Kashani, Amir H AH; Singer, Maxwell M; Byers, Joshua T JT; Magaki, Shino S; Guzman, Sam S; Sagare, Abhay A; Zlokovic, Berislav B; Cederbaum, Stephen S; Nelson, Stanley S; Sheikh-Bahaei, Nasim N; Chui, Helena C HC; Chávez-Gutiérrez, Lucía L; Vinters, Harry V HV
Publication Date: 2023

Variant appearance in text: PSEN1: 1292C>A; A431E
PubMed Link: 36895955
Variant Present in the following documents:
  • Main text
  • fcad030.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: 1292C>A; Ala431Glu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Retinal pathological features and proteome signatures of Alzheimer's disease.

Acta Neuropathologica
Koronyo, Yosef Y; Rentsendorj, Altan A; Mirzaei, Nazanin N; Regis, Giovanna C GC; Sheyn, Julia J; Shi, Haoshen H; Barron, Ernesto E; Cook-Wiens, Galen G; Rodriguez, Anthony R AR; Medeiros, Rodrigo R; Paulo, Joao A JA; Gupta, Veer B VB; Kramerov, Andrei A AA; Ljubimov, Alexander V AV; Van Eyk, Jennifer E JE; Graham, Stuart L SL; Gupta, Vivek K VK; Ringman, John M JM; Hinton, David R DR; Miller, Carol A CA; Black, Keith L KL; Cattaneo, Antonino A; Meli, Giovanni G; Mirzaei, Mehdi M; Fuchs, Dieu-Trang DT; Koronyo-Hamaoui, Maya M
Publication Date: 2023-02-11

Variant appearance in text: PSEN1: A431E
PubMed Link: 36773106
Variant Present in the following documents:
  • Main text
  • 401_2023_2548_MOESM1_ESM.pdf
  • 401_2023_Article_2548.pdf
View BVdb publication page



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: PSEN1: A431E
PubMed Link: 36343257
Variant Present in the following documents:
  • pnas.2212954119.sapp.pdf
View BVdb publication page



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: PSEN1: Ala431Glu
PubMed Link: 36251323
Variant Present in the following documents:
  • NIHMS1865189-supplement-SUPPORTING_INFORMATION_3.xlsx, sheet 1
View BVdb publication page



Neural Networks in Autosomal Dominant Alzheimer's Disease: Insights From Functional Magnetic Resonance Imaging Studies.

Frontiers In Aging Neuroscience
Qiu, Qiongqiong Q
Publication Date: 2022

Variant appearance in text: PSEN1: A431E
PubMed Link: 35928996
Variant Present in the following documents:
  • Main text
  • fnagi-14-903269.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: 1292C>A; Ala431Glu
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



γ-Secretase in Alzheimer's disease.

Experimental & Molecular Medicine
Hur, Ji-Yeun JY
Publication Date: 2022-04

Variant appearance in text: PSEN1: A431E
PubMed Link: 35396575
Variant Present in the following documents:
  • 12276_2022_Article_754.pdf
View BVdb publication page



Locus coeruleus integrity is related to tau burden and memory loss in autosomal-dominant Alzheimer's disease.

Neurobiology Of Aging
Dahl, Martin J MJ; Mather, Mara M; Werkle-Bergner, Markus M; Kennedy, Briana L BL; Guzman, Samuel S; Hurth, Kyle K; Miller, Carol A CA; Qiao, Yuchuan Y; Shi, Yonggang Y; Chui, Helena C HC; Ringman, John M JM
Publication Date: 2022-04

Variant appearance in text: PSEN1: A431E
PubMed Link: 35045380
Variant Present in the following documents:
  • Main text
View BVdb publication page



Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome.

Frontiers In Molecular Neuroscience
Vázquez-Costa, Juan Francisco JF; Payá-Montes, María M; Martínez-Molina, Marina M; Jaijo, Teresa T; Szymanski, Jazek J; Mazón, Miguel M; Sopena-Novales, Pablo P; , ; Pérez-Tur, Jordi J; Sevilla, Teresa T
Publication Date: 2021

Variant appearance in text: PSEN1: Ala431Glu
PubMed Link: 34526879
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alzheimer's disease-causing presenilin-1 mutations have deleterious effects on mitochondrial function.

Theranostics
Han, Jihoon J; Park, Heejin H; Maharana, Chinmoyee C; Gwon, A-Ryeong AR; Park, Jinsu J; Baek, Seung Hyun SH; Bae, Han-Gyu HG; Cho, Yoonsuk Y; Kim, Hark Kyun HK; Sul, Jae Hoon JH; Lee, Jeongmi J; Kim, Eunae E; Kim, Junsik J; Cho, Yongeun Y; Park, Sunyoung S; Palomera, Leon F LF; Arumugam, Thiruma V TV; Mattson, Mark P MP; Jo, Dong-Gyu DG
Publication Date: 2021

Variant appearance in text: PS1: A431E
PubMed Link: 34522215
Variant Present in the following documents:
  • Main text
  • thnov11p8855.pdf
View BVdb publication page



Dipeptidyl peptidase 4 contributes to Alzheimer's disease-like defects in a mouse model and is increased in sporadic Alzheimer's disease brains.

The Journal Of Biological Chemistry
Valverde, Audrey A; Dunys, Julie J; Lorivel, Thomas T; Debayle, Delphine D; Gay, Anne-Sophie AS; Caillava, Céline C; Chami, Mounia M; Checler, Frédéric F
Publication Date: 2021-08

Variant appearance in text: PSEN1: A431E
PubMed Link: 34265307
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Aβ1-16 controls synaptic vesicle pools at excitatory synapses via cholinergic modulation of synapsin phosphorylation.

Cellular And Molecular Life Sciences : Cmls
Anni, Daniela D; Weiss, Eva-Maria EM; Guhathakurta, Debarpan D; Akdas, Yagiz Enes YE; Klueva, Julia J; Zeitler, Stefanie S; Andres-Alonso, Maria M; Huth, Tobias T; Fejtova, Anna A
Publication Date: 2021-06

Variant appearance in text: PSEN1: A431E
PubMed Link: 33864480
Variant Present in the following documents:
  • 18_2021_Article_3835.pdf
View BVdb publication page



Abnormal retinal capillary blood flow in autosomal dominant Alzheimer's disease.

Alzheimer'S & Dementia (Amsterdam, Netherlands)
Singer, Maxwell B MB; Ringman, John M JM; Chu, Zhongdi Z; Zhou, Xiao X; Jiang, Xuejuan X; Shahidzadeh, Anoush A; Wang, Ruikang K RK; Kashani, Amir H AH
Publication Date: 2021

Variant appearance in text: PSEN1: A431E
PubMed Link: 33728371
Variant Present in the following documents:
  • Main text
  • DAD2-13-e12162.pdf
View BVdb publication page



Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants.

Alzheimer'S & Dementia (Amsterdam, Netherlands)
Hoogmartens, Julie J; Cacace, Rita R; Van Broeckhoven, Christine C
Publication Date: 2021

Variant appearance in text: PSEN1: A431E
PubMed Link: 33665345
Variant Present in the following documents:
  • Main text
  • DAD2-13-e12155.pdf
View BVdb publication page



Longitudinal Accumulation of Cerebral Microhemorrhages in Dominantly Inherited Alzheimer Disease.

Neurology
Joseph-Mathurin, Nelly N; Wang, Guoqiao G; Kantarci, Kejal K; Jack, Clifford R CR; McDade, Eric E; Hassenstab, Jason J; Blazey, Tyler M TM; Gordon, Brian A BA; Su, Yi Y; Chen, Gengsheng G; Massoumzadeh, Parinaz P; Hornbeck, Russ C RC; Allegri, Ricardo F RF; Ances, Beau M BM; Berman, Sarah B SB; Brickman, Adam M AM; Brooks, William S WS; Cash, David M DM; Chhatwal, Jasmeer P JP; Chui, Helena C HC; Correia, Stephen S; Cruchaga, Carlos C; Farlow, Martin R MR; Fox, Nick C NC; Fulham, Michael M; Ghetti, Bernardino B; Graff-Radford, Neill R NR; Johnson, Keith A KA; Karch, Celeste M CM; Laske, Christoph C; Lee, Athene K W AKW; Levin, Johannes J; Masters, Colin L CL; Noble, James M JM; O'Connor, Antoinette A; Perrin, Richard J RJ; Preboske, Gregory M GM; Ringman, John M JM; Rowe, Christopher C CC; Salloway, Stephen S; Saykin, Andrew J AJ; Schofield, Peter R PR; Shimada, Hiroyuki H; Shoji, Mikio M; Suzuki, Kazushi K; Villemagne, Victor L VL; Xiong, Chengjie C; Yakushev, Igor I; Morris, John C JC; Bateman, Randall J RJ; Benzinger, Tammie L S TLS; ,
Publication Date: 2021-03-23

Variant appearance in text: PSEN1: A431E
PubMed Link: 33495373
Variant Present in the following documents:
  • NEUROLOGY2020069963.pdf
View BVdb publication page



Reconstruction of Alzheimer's Disease Cell Model In Vitro via Extracted Peripheral Blood Molecular Cells from a Sporadic Patient.

Stem Cells International
Liu, Sijun S; Zhao, Yuying Y; Su, Xiaoying X; Zhou, Chengcheng C; Yang, Peifen P; Lin, Qiusan Q; Li, Shijun S; Tan, Hanxu H; Wang, Qi Q; Wang, Changjun C; Wu, Qingguang Q
Publication Date: 2020

Variant appearance in text: PSEN1: A431E
PubMed Link: 33381193
Variant Present in the following documents:
  • SCI2020-8897494.pdf
View BVdb publication page



Late-onset vs nonmendelian early-onset Alzheimer disease: A distinction without a difference?

Neurology. Genetics
Reitz, Christiane C; Rogaeva, Ekaterina E; Beecham, Gary W GW
Publication Date: 2020-10

Variant appearance in text: PSEN1: Ala431Glu
PubMed Link: 33225065
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: A431E
PubMed Link: 33188013
Variant Present in the following documents:
  • Main text
  • aba5933.pdf
View BVdb publication page



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: A431E
PubMed Link: 33188013
Variant Present in the following documents:
  • Main text
  • aba5933.pdf
View BVdb publication page



Primary Progressive Aphasia has a Unique Signature Distinct from Dementia of the Alzheimer's Type and Behavioral Variant Frontotemporal Dementia Regardless of Pathology.

Journal Of Neuropathology And Experimental Neurology
Gefen, Tamar T; Mao, Qinwen Q; Kohler, Missia M; Moeller, Stacey S; Kawles, Allegra A; Coventry, Christina C; Spencer, Callen C; Lilek, Jaclyn J; Ajroud, Kaouther K; Feldman, Alex A; Flanagan, Margaret M; Rogalski, Emily E; Weintraub, Sandra S; Rademaker, Alfred A; Geula, Changiz C; Mesulam, M-Marsel MM; Bigio, Eileen E
Publication Date: 2020-12-04

Variant appearance in text: PSEN1: A431E
PubMed Link: 33068393
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of dementia: insights from Latin America.

Dementia & Neuropsychologia
Ramos, Claudia C; Aguillon, David D; Cordano, Christian C; Lopera, Francisco F
Publication Date: 2020

Variant appearance in text: PSEN1: Ala431Glu
PubMed Link: 32973976
Variant Present in the following documents:
  • Main text
  • 1980-5764-dn-14-03-223.pdf
View BVdb publication page



Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25

Variant appearance in text: PSEN1: A431E
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



Estimating dispensable content in the human interactome.

Nature Communications
Ghadie, Mohamed M; Xia, Yu Y
Publication Date: 2019-07-19

Variant appearance in text: PSEN1: 1292C>A; Ala431Glu
PubMed Link: 31324802
Variant Present in the following documents:
  • 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
  • 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
View BVdb publication page



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: A431E
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



A mixed-methods study of cultural beliefs about dementia and genetic testing among Mexicans and Mexican-Americans at-risk for autosomal dominant Alzheimer's disease.

Journal Of Genetic Counseling
Withers, Mellissa M; Sayegh, Philip P; Rodriguez-Agudelo, Yaneth Y; Ernstrom, Karin K; Raman, Rema R; Montoya, Lucy L; Zuno-Reyes, Angelica A; Mosieri, Chizoba C; Matute, Esmeralda E; Ringman, John M JM
Publication Date: 2019-10

Variant appearance in text: PSEN1: A431E
PubMed Link: 31207006
Variant Present in the following documents:
  • Main text
View BVdb publication page



Homozygosity for the A431E mutation in PSEN1 presenting with a relatively aggressive phenotype.

Neuroscience Letters
Parker, John J; Mozaffar, Tahseen T; Messmore, Ashlynn A; Deignan, Joshua L JL; Kimonis, Virginia E VE; Ringman, John M JM
Publication Date: 2019-04-23

Variant appearance in text: PSEN1: A431E
PubMed Link: 30716424
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.

Translational Psychiatry
Jiang, Shan S; Wen, Natalie N; Li, Zeran Z; Dube, Umber U; Del Aguila, Jorge J; Budde, John J; Martinez, Rita R; Hsu, Simon S; Fernandez, Maria V MV; Cairns, Nigel J NJ; , ; , ; Harari, Oscar O; Cruchaga, Carlos C; Karch, Celeste M CM
Publication Date: 2018-12-13

Variant appearance in text: PSEN1: A431E
PubMed Link: 30546007
Variant Present in the following documents:
  • Main text
  • 41398_2018_Article_319.pdf
View BVdb publication page



Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Alzheimer'S Research & Therapy
Karch, Celeste M CM; Hernández, Damián D; Wang, Jen-Chyong JC; Marsh, Jacob J; Hewitt, Alex W AW; Hsu, Simon S; Norton, Joanne J; Levitch, Denise D; Donahue, Tamara T; Sigurdson, Wendy W; Ghetti, Bernardino B; Farlow, Martin M; Chhatwal, Jasmeer J; Berman, Sarah S; Cruchaga, Carlos C; Morris, John C JC; Bateman, Randall J RJ; , ; Pébay, Alice A; Goate, Alison M AM
Publication Date: 2018-07-25

Variant appearance in text: PSEN1: A431E
PubMed Link: 30045758
Variant Present in the following documents:
  • Main text
  • 13195_2018_Article_400.pdf
View BVdb publication page



1H MRS spectroscopy in preclinical autosomal dominant Alzheimer disease.

Brain Imaging And Behavior
Joe, Elizabeth E; Medina, Luis D LD; Ringman, John M JM; O'Neill, Joseph J
Publication Date: 2019-08

Variant appearance in text: PSEN1: A431E
PubMed Link: 29907927
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impairment of memory generalization in preclinical autosomal dominant Alzheimer's disease mutation carriers.

Neurobiology Of Aging
Petok, Jessica R JR; Myers, Catherine E CE; Pa, Judy J; Hobel, Zachary Z; Wharton, David M DM; Medina, Luis D LD; Casado, Maria M; Coppola, Giovanni G; Gluck, Mark A MA; Ringman, John M JM
Publication Date: 2018-05

Variant appearance in text: PSEN1: A431E
PubMed Link: 29494861
Variant Present in the following documents:
  • Main text
View BVdb publication page



CSF neurofilament light concentration is increased in presymptomatic CHMP2B mutation carriers.

Neurology
Rostgaard, Nina N; Roos, Peter P; Portelius, Erik E; Blennow, Kaj K; Zetterberg, Henrik H; Simonsen, Anja H AH; Nielsen, Jørgen E JE
Publication Date: 2018-01-09

Variant appearance in text: PSEN1: A431E
PubMed Link: 29237796
Variant Present in the following documents:
  • NEUROLOGY2017823393.pdf
View BVdb publication page



Amyloid polymorphisms constitute distinct clouds of conformational variants in different etiological subtypes of Alzheimer's disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Rasmussen, Jay J; Mahler, Jasmin J; Beschorner, Natalie N; Kaeser, Stephan A SA; Häsler, Lisa M LM; Baumann, Frank F; Nyström, Sofie S; Portelius, Erik E; Blennow, Kaj K; Lashley, Tammaryn T; Fox, Nick C NC; Sepulveda-Falla, Diego D; Glatzel, Markus M; Oblak, Adrian L AL; Ghetti, Bernardino B; Nilsson, K Peter R KPR; Hammarström, Per P; Staufenbiel, Matthias M; Walker, Lary C LC; Jucker, Mathias M
Publication Date: 2017-12-05

Variant appearance in text: PSEN1: A431E
PubMed Link: 29158413
Variant Present in the following documents:
  • Main text
View BVdb publication page



Monitoring disease progression in mild cognitive impairment: Associations between atrophy patterns, cognition, APOE and amyloid.

Neuroimage. Clinical
Falahati, Farshad F; Ferreira, Daniel D; Muehlboeck, J-Sebastian JS; Eriksdotter, Maria M; Simmons, Andrew A; Wahlund, Lars-Olof LO; Westman, Eric E
Publication Date: 2017

Variant appearance in text: PSEN1: A431E
PubMed Link: 28879083
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: PSEN1: 1292C>A; Ala431Glu
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Alzheimer's Disease in the Latino Community: Intersection of Genetics and Social Determinants of Health.

Journal Of Alzheimer'S Disease : Jad
Vega, Irving E IE; Cabrera, Laura Y LY; Wygant, Cassandra M CM; Velez-Ortiz, Daniel D; Counts, Scott E SE
Publication Date: 2017

Variant appearance in text: PSEN1: A431E
PubMed Link: 28527211
Variant Present in the following documents:
  • Main text
View BVdb publication page



The effects of different familial Alzheimer's disease mutations on APP processing in vivo.

Alzheimer'S Research & Therapy
Thordardottir, Steinunn S; Kinhult Ståhlbom, Anne A; Almkvist, Ove O; Thonberg, Håkan H; Eriksdotter, Maria M; Zetterberg, Henrik H; Blennow, Kaj K; Graff, Caroline C
Publication Date: 2017-02-16

Variant appearance in text: PSEN1: A431E
PubMed Link: 28209190
Variant Present in the following documents:
  • 13195_2017_Article_234.pdf
View BVdb publication page



Widespread white matter and conduction defects in PSEN1-related spastic paraparesis.

Neurobiology Of Aging
Soosman, Steffan K SK; Joseph-Mathurin, Nelly N; Braskie, Meredith N MN; Bordelon, Yvette M YM; Wharton, David D; Casado, Maria M; Coppola, Giovanni G; McCallum, Holly H; Nuwer, Marc M; Coutin-Churchman, Pedro P; Apostolova, Liana G LG; Benzinger, Tammie T; Ringman, John M JM
Publication Date: 2016-11

Variant appearance in text: PSEN1: A431E
PubMed Link: 27614114
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: A431E
PubMed Link: 27572246
Variant Present in the following documents:
  • 13195_2016_Article_199.pdf
View BVdb publication page



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: A431E
PubMed Link: 26888304
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence for Mitochondrial UPR Gene Activation in Familial and Sporadic Alzheimer's Disease.

Current Alzheimer Research
Beck, John S JS; Mufson, Elliott J EJ; Counts, Scott E SE
Publication Date: 2016

Variant appearance in text: PS1: A431E
PubMed Link: 26687188
Variant Present in the following documents:
  • Main text
View BVdb publication page



Autosomal Dominant Alzheimer Disease: A Unique Resource to Study CSF Biomarker Changes in Preclinical AD.

Frontiers In Neurology
Schindler, Suzanne Elizabeth SE; Fagan, Anne M AM
Publication Date: 2015

Variant appearance in text: PSEN1: A431E
PubMed Link: 26175713
Variant Present in the following documents:
  • Main text
  • fneur-06-00142.pdf
View BVdb publication page



Memory binding and white matter integrity in familial Alzheimer's disease.

Brain : A Journal Of Neurology
Parra, Mario A MA; Saarimäki, Heini H; Bastin, Mark E ME; Londoño, Ana C AC; Pettit, Lewis L; Lopera, Francisco F; Della Sala, Sergio S; Abrahams, Sharon S
Publication Date: 2015-05

Variant appearance in text: PSEN1: A431E
PubMed Link: 25762465
Variant Present in the following documents:
  • Main text
View BVdb publication page



β-site amyloid precursor protein-cleaving enzyme 1(BACE1) inhibitor treatment induces Aβ5-X peptides through alternative amyloid precursor protein cleavage.

Alzheimer'S Research & Therapy
Portelius, Erik E; Dean, Robert A RA; Andreasson, Ulf U; Mattsson, Niklas N; Westerlund, Anni A; Olsson, Maria M; Demattos, Ronald Bradley RB; Racke, Margaret M MM; Zetterberg, Henrik H; May, Patrick C PC; Blennow, Kaj K
Publication Date: 2014

Variant appearance in text: PSEN1: A431E
PubMed Link: 25404952
Variant Present in the following documents:
  • 13195_2014_Article_75.pdf
View BVdb publication page



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: Ala431Glu
PubMed Link: 25217249
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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: Ala431Glu
PubMed Link: 24729694
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  • cia-9-535.pdf
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Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease.

Neuroscience Letters
Cornejo-Olivas, Mario R MR; Yu, Chang-En CE; Mazzetti, Pilar P; Mata, Ignacio F IF; Meza, Maria M; Lindo-Samanamud, Saul S; Leverenz, James B JB; Bird, Thomas D TD
Publication Date: 2014-03-20

Variant appearance in text: PSEN1: Ala431Glu
PubMed Link: 24495933
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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: A431E
PubMed Link: 24377094
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Subjects harboring presenilin familial Alzheimer's disease mutations exhibit diverse white matter biochemistry alterations.

American Journal Of Neurodegenerative Disease
Roher, Alex E AE; Maarouf, Chera L CL; Malek-Ahmadi, Michael M; Wilson, Jeffrey J; Kokjohn, Tyler A TA; Daugs, Ian D ID; Whiteside, Charisse M CM; Kalback, Walter M WM; Macias, Mimi P MP; Jacobson, Sandra A SA; Sabbagh, Marwan N MN; Ghetti, Bernardino B; Beach, Thomas G TG
Publication Date: 2013

Variant appearance in text: PSEN1: A431E
PubMed Link: 24093083
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New genes and new insights from old genes: update on Alzheimer disease.

Continuum (Minneapolis, Minn.)
Ringman, John M JM; Coppola, Giovanni G
Publication Date: 2013-04

Variant appearance in text: PSEN1: A431E
PubMed Link: 23558482
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Conformation-dependent oligomers in cerebrospinal fluid of presymptomatic familial Alzheimer's disease mutation carriers.

Dementia And Geriatric Cognitive Disorders Extra
Ringman, John M JM; Tomic, Jennifer L JL; Coppola, Giovanni G; Elashoff, David D; Gylys, Karen H KH; Glabe, Charles G CG
Publication Date: 2012-01

Variant appearance in text: PSEN1: A431E
PubMed Link: 23341831
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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: A431E
PubMed Link: 23224319
Variant Present in the following documents:
  • 401_2012_Article_1062.pdf
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Regional brain volume differences in symptomatic and presymptomatic carriers of familial Alzheimer's disease mutations.

Journal Of Neurology, Neurosurgery, And Psychiatry
Lee, Grace J GJ; Lu, Po H PH; Medina, Luis D LD; Rodriguez-Agudelo, Yaneth Y; Melchor, Stephanie S; Coppola, Giovanni G; Braskie, Meredith N MN; Hua, Xue X; Apostolova, Liana G LG; Leow, Alex D AD; Thompson, Paul M PM; Ringman, John M JM
Publication Date: 2013-02

Variant appearance in text: PSEN1: A431E
PubMed Link: 23085935
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Appraisal of cognition in preclinical Alzheimer's disease: a conceptual review.

Neurodegenerative Disease Management
Knopman, David S DS; Caselli, Richard J RJ
Publication Date: 2012

Variant appearance in text: PS1: A431E
PubMed Link: 22798965
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Plasma signaling proteins in persons at genetic risk for Alzheimer disease: influence of APOE genotype.

Archives Of Neurology
Ringman, John M JM; Elashoff, David D; Geschwind, Daniel H DH; Welsh, Brian T BT; Gylys, Karen H KH; Lee, Cathy C; Cummings, Jeffrey L JL; Cole, Greg M GM
Publication Date: 2012-06

Variant appearance in text: PSEN1: A431E
PubMed Link: 22689192
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Plasma methionine sulfoxide in persons with familial Alzheimer's disease mutations.

Dementia And Geriatric Cognitive Disorders
Ringman, John M JM; Fithian, Andrew T AT; Gylys, Karen K; Cummings, Jeffrey L JL; Coppola, Giovanni G; Elashoff, David D; Pratico, Domenico D; Moskovitz, Jackob J; Bitan, Gal G
Publication Date: 2012

Variant appearance in text: PSEN1: A431E
PubMed Link: 22584618
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Comparison of clinical characteristics between familial and non-familial early onset Alzheimer's disease.

Journal Of Neurology
Joshi, Aditi A; Ringman, John M JM; Lee, Albert S AS; Juarez, Kevin O KO; Mendez, Mario F MF
Publication Date: 2012-10

Variant appearance in text: PSEN1: A431E
PubMed Link: 22460587
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Cerebrospinal fluid biomarkers and proximity to diagnosis in preclinical familial Alzheimer's disease.

Dementia And Geriatric Cognitive Disorders
Ringman, John M JM; Coppola, Giovanni G; Elashoff, David D; Rodriguez-Agudelo, Yaneth Y; Medina, Luis D LD; Gylys, Karen K; Cummings, Jeffrey L JL; Cole, Greg M GM
Publication Date: 2012

Variant appearance in text: PSEN1: A431E
PubMed Link: 22343824
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The amyloid-β isoform pattern in cerebrospinal fluid in familial PSEN1 M139T- and L286P-associated Alzheimer's disease.

Molecular Medicine Reports
Portelius, Erik E; Fortea, Juan J; Molinuevo, Jose Luis JL; Gustavsson, Mikael K MK; Andreasson, Ulf U; Sanchez-Valle, Raquel R
Publication Date: 2012-04

Variant appearance in text: PSEN1: A431E
PubMed Link: 22307680
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Proteomic changes in cerebrospinal fluid of presymptomatic and affected persons carrying familial Alzheimer disease mutations.

Archives Of Neurology
Ringman, John M JM; Schulman, Howard H; Becker, Chris C; Jones, Ted T; Bai, Yuchen Y; Immermann, Fred F; Cole, Gregory G; Sokolow, Sophie S; Gylys, Karen K; Geschwind, Daniel H DH; Cummings, Jeffrey L JL; Wan, Hong I HI
Publication Date: 2012-01

Variant appearance in text: PSEN1: A431E
PubMed Link: 22232349
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