PSEN1 c.704T>C ;(p.L235P)

Variant ID: 14-73659507-T-C

NM_000021.3(PSEN1):c.704T>C;(p.L235P)

This variant was identified in 41 publications

View GRCh38 version.




Publications:


Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease.

Frontiers In Neurology
Liang, Zhihou Z; Wu, Yan Y; Li, Chuanzhou C; Liu, Zhijun Z
Publication Date: 2023

Variant appearance in text: PSEN1: L235P
PubMed Link: 37051054
Variant Present in the following documents:
  • Main text
  • fneur-14-1119326.pdf
View BVdb publication page



Non-Enzymatic Antioxidants against Alzheimer's Disease: Prevention, Diagnosis and Therapy.

Antioxidants (Basel, Switzerland)
Varesi, Angelica A; Campagnoli, Lucrezia Irene Maria LIM; Carrara, Adelaide A; Pola, Ilaria I; Floris, Elena E; Ricevuti, Giovanni G; Chirumbolo, Salvatore S; Pascale, Alessia A
Publication Date: 2023-01-12

Variant appearance in text: PS1: L235P
PubMed Link: 36671042
Variant Present in the following documents:
  • antioxidants-12-00180.pdf
View BVdb publication page



Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences
Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2022-09-19

Variant appearance in text: PSEN1: Leu235Pro
PubMed Link: 36142879
Variant Present in the following documents:
  • Main text
  • ijms-23-10970.pdf
View BVdb publication page



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: L235P
PubMed Link: 35365805
Variant Present in the following documents:
  • Main text
  • 41380_2022_Article_1518.pdf
View BVdb publication page



CCL2 Inhibition of Pro-Resolving Mediators Potentiates Neuroinflammation in Astrocytes.

International Journal Of Molecular Sciences
Gutiérrez, Irene L IL; Novellino, Fabiana F; Caso, Javier R JR; García-Bueno, Borja B; Leza, Juan C JC; Madrigal, José L M JLM
Publication Date: 2022-03-18

Variant appearance in text: PSEN1: L235P
PubMed Link: 35328727
Variant Present in the following documents:
  • Main text
  • ijms-23-03307.pdf
View BVdb publication page



A New Presenilin 1 (Psen1) Mutation (p.Cys263Trp) as a Cause of Both Early and Late-Onset Alzheimer's Disease in a Large Italian Family.

International Journal Of Molecular Sciences
Tortelli, Rosanna R; Seripa, Davide D; Zecca, Chiara C; Dell'Abate, Maria Teresa MT; Bisceglia, Paola P; Barulli, Maria Rosaria MR; De Blasi, Roberto R; Logroscino, Giancarlo G
Publication Date: 2021-06-09

Variant appearance in text: PSEN1: L235P
PubMed Link: 34207526
Variant Present in the following documents:
  • Main text
  • ijms-22-06215.pdf
View BVdb publication page



Neuronal Network Excitability in Alzheimer's Disease: The Puzzle of Similar versus Divergent Roles of Amyloid β and Tau.

Eneuro
Kazim, Syed Faraz SF; Seo, Joon Ho JH; Bianchi, Riccardo R; Larson, Chloe S CS; Sharma, Abhijeet A; Wong, Robert K S RKS; Gorbachev, Kirill Y KY; Pereira, Ana C AC
Publication Date: 2021

Variant appearance in text: PSEN1: L235P
PubMed Link: 33741601
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adult hippocampal neurogenesis in Alzheimer's disease.

Progress In Molecular Biology And Translational Science
Disouky, Ahmed A; Lazarov, Orly O
Publication Date: 2021

Variant appearance in text: PS1: L235P
PubMed Link: 33453939
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuron Loss in Alzheimer's Disease: Translation in Transgenic Mouse Models.

International Journal Of Molecular Sciences
Wirths, Oliver O; Zampar, Silvia S
Publication Date: 2020-10-30

Variant appearance in text: PS1: L235P
PubMed Link: 33143374
Variant Present in the following documents:
  • ijms-21-08144.pdf
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: L235P
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



Activity-induced MEMRI cannot detect functional brain anomalies in the APPxPS1-Ki mouse model of Alzheimer's disease.

Scientific Reports
Androuin, Alexandre A; Abada, Yah-Se YS; Ly, Myriam M; Santin, Mathieu M; Petiet, Alexandra A; Epelbaum, Stéphane S; Bertrand, Anne A; Delatour, Benoît B
Publication Date: 2019-02-04

Variant appearance in text: PS1: L235P
PubMed Link: 30718666
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_37980.pdf
View BVdb publication page



Seizures as an early symptom of autosomal dominant Alzheimer's disease.

Neurobiology Of Aging
Vöglein, Jonathan J; Noachtar, Soheyl S; McDade, Eric E; Quaid, Kimberly A KA; Salloway, Stephen S; Ghetti, Bernardino B; Noble, James J; Berman, Sarah S; Chhatwal, Jasmeer J; Mori, Hiroshi H; Fox, Nick N; Allegri, Ricardo R; Masters, Colin L CL; Buckles, Virginia V; Ringman, John M JM; Rossor, Martin M; Schofield, Peter R PR; Sperling, Reisa R; Jucker, Mathias M; Laske, Christoph C; Paumier, Katrina K; Morris, John C JC; Bateman, Randall J RJ; Levin, Johannes J; Danek, Adrian A; ,
Publication Date: 2019-04

Variant appearance in text: PSEN1: L235P
PubMed Link: 30616208
Variant Present in the following documents:
  • Main text
View BVdb publication page



Glycoprotein NMB: a novel Alzheimer's disease associated marker expressed in a subset of activated microglia.

Acta Neuropathologica Communications
Hüttenrauch, Melanie M; Ogorek, Isabella I; Klafki, Hans H; Otto, Markus M; Stadelmann, Christine C; Weggen, Sascha S; Wiltfang, Jens J; Wirths, Oliver O
Publication Date: 2018-10-19

Variant appearance in text: PSEN1: L235P
PubMed Link: 30340518
Variant Present in the following documents:
  • Main text
  • 40478_2018_Article_612.pdf
View BVdb publication page



Altered neurogenesis in mouse models of Alzheimer disease.

Neurogenesis (Austin, Tex.)
Wirths, Oliver O
Publication Date: 2017

Variant appearance in text: PS1: L235P
PubMed Link: 29564360
Variant Present in the following documents:
  • Main text
View BVdb publication page



Synaptic Alterations in Mouse Models for Alzheimer Disease-A Special Focus on N-Truncated Abeta 4-42.

Molecules (Basel, Switzerland)
Dietrich, Katharina K; Bouter, Yvonne Y; Müller, Michael M; Bayer, Thomas A TA
Publication Date: 2018-03-21

Variant appearance in text: PS1: L235P
PubMed Link: 29561816
Variant Present in the following documents:
  • Main text
  • molecules-23-00718.pdf
View BVdb publication page



Practical considerations for choosing a mouse model of Alzheimer's disease.

Molecular Neurodegeneration
Jankowsky, Joanna L JL; Zheng, Hui H
Publication Date: 2017-12-22

Variant appearance in text: PS1: L235P
PubMed Link: 29273078
Variant Present in the following documents:
  • Main text
View BVdb publication page



From a mouse: systematic analysis reveals limitations of experiments testing interventions in Alzheimer's disease mouse models.

Evidence-Based Preclinical Medicine
Egan, K J KJ; Vesterinen, H M HM; Beglopoulos, V V; Sena, E S ES; Macleod, M R MR
Publication Date: 2016-08

Variant appearance in text: PS1: L235P
PubMed Link: 29214041
Variant Present in the following documents:
  • Main text
  • EBM2-3-12.pdf
View BVdb publication page



N-truncated Aβ4-x peptides in sporadic Alzheimer's disease cases and transgenic Alzheimer mouse models.

Alzheimer'S Research & Therapy
Wirths, Oliver O; Walter, Susanne S; Kraus, Inga I; Klafki, Hans W HW; Stazi, Martina M; Oberstein, Timo J TJ; Ghiso, Jorge J; Wiltfang, Jens J; Bayer, Thomas A TA; Weggen, Sascha S
Publication Date: 2017-10-04

Variant appearance in text: PSEN1: L235P
PubMed Link: 28978359
Variant Present in the following documents:
  • Main text
  • 13195_2017_Article_309.pdf
View BVdb publication page



Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Clinical Interventions In Aging
Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S
Publication Date: 2016

Variant appearance in text: PSEN1: Leu235Pro
PubMed Link: 27799753
Variant Present in the following documents:
  • Main text
  • cia-11-1467.pdf
View BVdb publication page



Alzheimer's in 3D culture: challenges and perspectives.

Bioessays : News And Reviews In Molecular, Cellular And Developmental Biology
D'Avanzo, Carla C; Aronson, Jenna J; Kim, Young Hye YH; Choi, Se Hoon SH; Tanzi, Rudolph E RE; Kim, Doo Yeon DY
Publication Date: 2015-10

Variant appearance in text: PSEN1: L235P
PubMed Link: 26252541
Variant Present in the following documents:
  • Main text
View BVdb publication page



Axonal degeneration in an Alzheimer mouse model is PS1 gene dose dependent and linked to intraneuronal Aβ accumulation.

Frontiers In Aging Neuroscience
Christensen, Ditte Z DZ; Huettenrauch, Melanie M; Mitkovski, Miso M; Pradier, Laurent L; Wirths, Oliver O
Publication Date: 2014

Variant appearance in text: PS1: L235P
PubMed Link: 25018730
Variant Present in the following documents:
  • Main text
View BVdb publication page



REGION-SPECIFIC NEURON AND SYNAPSE LOSS IN THE HIPPOCAMPUS OF APPSL/PS1 KNOCK-IN MICE.

Translational Neuroscience
Brasnjevic, Ivona I; Lardenoije, Roy R; Schmitz, Christoph C; Van Der Kolk, Nicolien N; Dickstein, Dara L DL; Takahashi, Hisaaki H; Hof, Patrick R PR; Steinbusch, Harry W M HW; Rutten, Bart P F BP
Publication Date: 2013-03-01

Variant appearance in text: PS1: L235P
PubMed Link: 24829793
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Leu235Pro
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page



Abundance of Aβ₅-x like immunoreactivity in transgenic 5XFAD, APP/PS1KI and 3xTG mice, sporadic and familial Alzheimer's disease.

Molecular Neurodegeneration
Guzmán, Erika Avendaño EA; Bouter, Yvonne Y; Richard, Bernhard C BC; Lannfelt, Lars L; Ingelsson, Martin M; Paetau, Anders A; Verkkoniemi-Ahola, Auli A; Wirths, Oliver O; Bayer, Thomas A TA
Publication Date: 2014-04-02

Variant appearance in text: PS1: L235P
PubMed Link: 24694184
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neurologic and motor dysfunctions in APP transgenic mice.

Reviews In The Neurosciences
Lalonde, Robert R; Fukuchi, Ken-Ichiro K; Strazielle, Catherine C
Publication Date: 2012

Variant appearance in text: PS1: L235P
PubMed Link: 23089603
Variant Present in the following documents:
  • Main text
View BVdb publication page



APP transgenic mice for modelling behavioural and psychological symptoms of dementia (BPSD).

Neuroscience And Biobehavioral Reviews
Lalonde, R R; Fukuchi, K K; Strazielle, C C
Publication Date: 2012-05

Variant appearance in text: PS1: L235P
PubMed Link: 22373961
Variant Present in the following documents:
  • Main text
View BVdb publication page



Age-related changes of neuron numbers in the frontal cortex of a transgenic mouse model of Alzheimer's disease.

Brain Structure & Function
Lemmens, Marijke A M MA; Sierksma, Annerieke S R AS; Rutten, Bart P F BP; Dennissen, Frank F; Steinbusch, Harry W M HW; Lucassen, Paul J PJ; Schmitz, Christoph C
Publication Date: 2011-09

Variant appearance in text: PS1: L235P
PubMed Link: 21409417
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-environment interaction research and transgenic mouse models of Alzheimer's disease.

International Journal Of Alzheimer'S Disease
Chouliaras, L L; Sierksma, A S R AS; Kenis, G G; Prickaerts, J J; Lemmens, M A M MA; Brasnjevic, I I; van Donkelaar, E L EL; Martinez-Martinez, P P; Losen, M M; De Baets, M H MH; Kholod, N N; van Leeuwen, F F; Hof, P R PR; van Os, J J; Steinbusch, H W M HW; van den Hove, D L A DL; Rutten, B P F BP
Publication Date: 2010-10-05

Variant appearance in text: PS1: Leu235Pro
PubMed Link: 20953364
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuron loss in transgenic mouse models of Alzheimer's disease.

International Journal Of Alzheimer'S Disease
Wirths, Oliver O; Bayer, Thomas A TA
Publication Date: 2010-08-12

Variant appearance in text: PS1: L235P
PubMed Link: 20871861
Variant Present in the following documents:
  • Main text
  • IJAD2010-723782.pdf
View BVdb publication page



Predictably irrational: assaying cognitive inflexibility in mouse models of schizophrenia.

Frontiers In Neuroscience
Brigman, Jonathan L JL; Graybeal, Carolyn C; Holmes, Andrew A
Publication Date: 2010

Variant appearance in text: PS1: L235P
PubMed Link: 20859447
Variant Present in the following documents:
  • Main text
View BVdb publication page



Intracellular accumulation of amyloid-Beta - a predictor for synaptic dysfunction and neuron loss in Alzheimer's disease.

Frontiers In Aging Neuroscience
Bayer, Thomas A TA; Wirths, Oliver O
Publication Date: 2010

Variant appearance in text: PS1: L235P
PubMed Link: 20552046
Variant Present in the following documents:
  • Main text
View BVdb publication page



Murine models of Alzheimer's disease and their use in developing immunotherapies.

Biochimica Et Biophysica Acta
Wisniewski, Thomas T; Sigurdsson, Einar M EM
Publication Date: 2010-10

Variant appearance in text: PS1: L235P
PubMed Link: 20471477
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hippocampal interneuron loss in an APP/PS1 double mutant mouse and in Alzheimer's disease.

Brain Structure & Function
Takahashi, Hisaaki H; Brasnjevic, Ivona I; Rutten, Bart P F BP; Van Der Kolk, Nicolien N; Perl, Daniel P DP; Bouras, Constantin C; Steinbusch, Harry W M HW; Schmitz, Christoph C; Hof, Patrick R PR; Dickstein, Dara L DL
Publication Date: 2010-03

Variant appearance in text: PS1: L235P
PubMed Link: 20213270
Variant Present in the following documents:
  • Main text
View BVdb publication page



Coenzyme Q10 effects in neurodegenerative disease.

Neuropsychiatric Disease And Treatment
Spindler, Meredith M; Beal, M Flint MF; Henchcliffe, Claire C
Publication Date: 2009

Variant appearance in text: PS1: L235P
PubMed Link: 19966907
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interaction of double-stranded RNA-dependent protein kinase (PKR) with the death receptor signaling pathway in amyloid beta (Abeta)-treated cells and in APPSLPS1 knock-in mice.

The Journal Of Biological Chemistry
Couturier, Julien J; Morel, Milena M; Pontcharraud, Raymond R; Gontier, Virginie V; Fauconneau, Bernard B; Paccalin, Marc M; Page, Guylène G
Publication Date: 2010-01-08

Variant appearance in text: PS1: L235P
PubMed Link: 19889624
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pyroglutamate Abeta pathology in APP/PS1KI mice, sporadic and familial Alzheimer's disease cases.

Journal Of Neural Transmission (Vienna, Austria : 1996)
Wirths, Oliver O; Bethge, Tobias T; Marcello, Andrea A; Harmeier, Anja A; Jawhar, Sadim S; Lucassen, Paul J PJ; Multhaup, Gerd G; Brody, David L DL; Esparza, Thomas T; Ingelsson, Martin M; Kalimo, Hannu H; Lannfelt, Lars L; Bayer, Thomas A TA
Publication Date: 2010-01

Variant appearance in text: PS1: L235P
PubMed Link: 19823761
Variant Present in the following documents:
  • Main text
View BVdb publication page



Intraneuronal pyroglutamate-Abeta 3-42 triggers neurodegeneration and lethal neurological deficits in a transgenic mouse model.

Acta Neuropathologica
Wirths, Oliver O; Breyhan, Henning H; Cynis, Holger H; Schilling, Stephan S; Demuth, Hans-Ulrich HU; Bayer, Thomas A TA
Publication Date: 2009-10

Variant appearance in text: PS1: L235P
PubMed Link: 19547991
Variant Present in the following documents:
  • Main text
View BVdb publication page



Intraneuronal beta-amyloid aggregates, neurodegeneration, and neuron loss in transgenic mice with five familial Alzheimer's disease mutations: potential factors in amyloid plaque formation.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Oakley, Holly H; Cole, Sarah L SL; Logan, Sreemathi S; Maus, Erika E; Shao, Pei P; Craft, Jeffery J; Guillozet-Bongaarts, Angela A; Ohno, Masuo M; Disterhoft, John J; Van Eldik, Linda L; Berry, Robert R; Vassar, Robert R
Publication Date: 2006-10-04

Variant appearance in text: PS1: L235P
PubMed Link: 17021169
Variant Present in the following documents:
  • Main text
View BVdb publication page



Age-related loss of synaptophysin immunoreactive presynaptic boutons within the hippocampus of APP751SL, PS1M146L, and APP751SL/PS1M146L transgenic mice.

The American Journal Of Pathology
Rutten, Bart P F BP; Van der Kolk, Nicolien M NM; Schafer, Stephanie S; van Zandvoort, Marc A M J MA; Bayer, Thomas A TA; Steinbusch, Harry W M HW; Schmitz, Christoph C
Publication Date: 2005-07

Variant appearance in text: PS1: L235P
PubMed Link: 15972962
Variant Present in the following documents:
  • Main text
View BVdb publication page



Massive CA1/2 neuronal loss with intraneuronal and N-terminal truncated Abeta42 accumulation in a novel Alzheimer transgenic model.

The American Journal Of Pathology
Casas, Caty C; Sergeant, Nicolas N; Itier, Jean-Michel JM; Blanchard, Véronique V; Wirths, Oliver O; van der Kolk, Nicolien N; Vingtdeux, Valérie V; van de Steeg, Evita E; Ret, Gwenaëlle G; Canton, Thierry T; Drobecq, Hervé H; Clark, Allan A; Bonici, Bruno B; Delacourte, André A; Benavides, Jesús J; Schmitz, Christoph C; Tremp, Günter G; Bayer, Thomas A TA; Benoit, Patrick P; Pradier, Laurent L
Publication Date: 2004-10

Variant appearance in text: PS1: L235P
PubMed Link: 15466394
Variant Present in the following documents:
  • Main text
View BVdb publication page