PSEN1 c.698T>C ;(p.M233T)

Variant ID: 14-73659501-T-C

NM_000021.3(PSEN1):c.698T>C;(p.M233T)

This variant was identified in 70 publications

View GRCh38 version.




Publications:


A new age in understanding adult hippocampal neurogenesis in Alzheimer's disease.

Neural Regeneration Research
Hanspal, Maya A MA; Gillotin, Sébastien S
Publication Date: 2022-12

Variant appearance in text: PSEN1: M233T
PubMed Link: 35662190
Variant Present in the following documents:
  • Main text
  • NRR-17-2615.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: M233T
PubMed Link: 35328727
Variant Present in the following documents:
  • Main text
  • ijms-23-03307.pdf
View BVdb publication page



Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia: The IT-DIAfN Protocol.

Alzheimer Disease And Associated Disorders
Galluzzi, Samantha S; Mega, Anna A; Di Fede, Giuseppe G; Muscio, Cristina C; Fascendini, Sara S; Benussi, Luisa L; Tagliavini, Fabrizio F; Frisoni, Giovanni B GB; Di Maria, Emilio E; ,
Publication Date: 2022

Variant appearance in text: PSEN1: M233T
PubMed Link: 35293381
Variant Present in the following documents:
  • Main text
  • wad-36-118.pdf
View BVdb publication page



Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.

Translational Psychiatry
Kakuda, Nobuto N; Takami, Mako M; Okochi, Masayasu M; Kasuga, Kensaku K; Ihara, Yasuo Y; Ikeuchi, Takeshi T
Publication Date: 2021-11-03

Variant appearance in text: PS1: M233T
PubMed Link: 34728605
Variant Present in the following documents:
  • Main text
  • 41398_2021_Article_1684.pdf
View BVdb publication page



Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.

Translational Psychiatry
Kakuda, Nobuto N; Takami, Mako M; Okochi, Masayasu M; Kasuga, Kensaku K; Ihara, Yasuo Y; Ikeuchi, Takeshi T
Publication Date: 2021-11-03

Variant appearance in text: PS1: M233T
PubMed Link: 34728605
Variant Present in the following documents:
  • Main text
  • 41398_2021_Article_1684.pdf
View BVdb publication page



The Clinical Spectrum of Young Onset Dementia Points to Its Stochastic Origins.

Journal Of Alzheimer'S Disease Reports
Panegyres, Peter K PK
Publication Date: 2021

Variant appearance in text: PSEN1: M233T
PubMed Link: 34632303
Variant Present in the following documents:
  • adr-5-adr210309.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: M233T
PubMed Link: 34207526
Variant Present in the following documents:
  • Main text
  • ijms-22-06215.pdf
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: M233T
PubMed Link: 33453939
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Dysfunctions of Mitochondria-Associated Membranes (MAMs) in Alzheimer's Disease.

International Journal Of Molecular Sciences
Eysert, Fanny F; Kinoshita, Paula Fernanda PF; Mary, Arnaud A; Vaillant-Beuchot, Loan L; Checler, Frédéric F; Chami, Mounia M
Publication Date: 2020-12-14

Variant appearance in text: PS1: M233T
PubMed Link: 33327665
Variant Present in the following documents:
  • Main text
  • ijms-21-09521.pdf
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: M233T
PubMed Link: 33143374
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Molecular Genetics & Genomic Medicine
Qin, Qi Q; Yin, Yunsi Y; Wang, Yan Y; Lu, Yuanyuan Y; Tang, Yi Y; Jia, Jianping J
Publication Date: 2020-10

Variant appearance in text: PSEN1: M233T
PubMed Link: 32767553
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1443.pdf
View BVdb publication page



The R278I Mutation of PSEN1 in the Familial Alzheimer Disease.

Dementia And Neurocognitive Disorders
Kim, Jong Hun JH; Choi, Seong Hye SH; Lee, Jun Hong JH
Publication Date: 2020-03

Variant appearance in text: PSEN1: M233T
PubMed Link: 32174048
Variant Present in the following documents:
  • dnd-19-33.pdf
View BVdb publication page



β2-adrenergic Agonists Rescue Lysosome Acidification and Function in PSEN1 Deficiency by Reversing Defective ER-to-lysosome Delivery of ClC-7.

Journal Of Molecular Biology
Lee, Ju-Hyun JH; Wolfe, Devin M DM; Darji, Sandipkumar S; McBrayer, Mary Kate MK; Colacurcio, Daniel J DJ; Kumar, Asok A; Stavrides, Philip P; Mohan, Panaiyur S PS; Nixon, Ralph A RA
Publication Date: 2020-04-03

Variant appearance in text: PSEN1: M233T
PubMed Link: 32105735
Variant Present in the following documents:
  • Main text
View BVdb publication page



Decrease in p3-Alcβ37 and p3-Alcβ40, products of Alcadein β generated by γ-secretase cleavages, in aged monkeys and patients with Alzheimer's disease.

Alzheimer'S & Dementia (New York, N. Y.)
Hata, Saori S; Omori, Chiori C; Kimura, Ayano A; Saito, Haruka H; Kimura, Nobuyuki N; Gupta, Veer V; Pedrini, Steve S; Hone, Eugene E; Chatterjee, Pratishtha P; Taddei, Kevin K; Kasuga, Kensaku K; Ikeuchi, Takeshi T; Waragai, Masaaki M; Nishimura, Masaki M; Hu, Anqi A; Nakaya, Tadashi T; Meijer, Laurent L; Maeda, Masahiro M; Yamamoto, Tohru T; Masters, Colin L CL; Rowe, Chris C CC; Ames, David D; Yamamoto, Kazuo K; Martins, Ralph N RN; Gandy, Sam S; Suzuki, Toshiharu T
Publication Date: 2019

Variant appearance in text: PSEN1: M233T
PubMed Link: 31754625
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
View BVdb publication page



APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences
Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2019-09-25

Variant appearance in text: PSEN1: Met233Thr
PubMed Link: 31557888
Variant Present in the following documents:
  • Main text
  • ijms-20-04757.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: M233T
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: M233T
PubMed Link: 30718666
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_37980.pdf
View BVdb publication page



Cholesterol impairs autophagy-mediated clearance of amyloid beta while promoting its secretion.

Autophagy
Barbero-Camps, Elisabet E; Roca-Agujetas, Vicente V; Bartolessis, Isabel I; de Dios, Cristina C; Fernández-Checa, Jose C JC; Marí, Montserrat M; Morales, Albert A; Hartmann, Tobias T; Colell, Anna A
Publication Date: 2018

Variant appearance in text: PSEN1: M233T
PubMed Link: 29862881
Variant Present in the following documents:
  • Main text
View BVdb publication page



Critical review: involvement of endoplasmic reticulum stress in the aetiology of Alzheimer's disease.

Open Biology
Hashimoto, Shoko S; Saido, Takaomi C TC
Publication Date: 2018-04

Variant appearance in text: PS1: M233T
PubMed Link: 29695619
Variant Present in the following documents:
  • Main text
  • rsob-8-180024.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: M233T
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: M233T
PubMed Link: 29561816
Variant Present in the following documents:
  • Main text
  • molecules-23-00718.pdf
View BVdb publication page



PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.

Journal Of Movement Disorders
Appel-Cresswell, Silke S; Guella, Ilaria I; Lehman, Anna A; Foti, Dean D; Farrer, Matthew J MJ
Publication Date: 2018-01

Variant appearance in text: PSEN1: Met233Thr
PubMed Link: 29316780
Variant Present in the following documents:
  • Main text
  • jmd-17066.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: M233T
PubMed Link: 28978359
Variant Present in the following documents:
  • Main text
  • 13195_2017_Article_309.pdf
View BVdb publication page



APP mouse models for Alzheimer's disease preclinical studies.

The Embo Journal
Sasaguri, Hiroki H; Nilsson, Per P; Hashimoto, Shoko S; Nagata, Kenichi K; Saito, Takashi T; De Strooper, Bart B; Hardy, John J; Vassar, Robert R; Winblad, Bengt B; Saido, Takaomi C TC
Publication Date: 2017-09-01

Variant appearance in text: PSEN1: M233T
PubMed Link: 28768718
Variant Present in the following documents:
  • Main text
View BVdb publication page



APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

Plos Medicine
Lanoiselée, Hélène-Marie HM; Nicolas, Gaël G; Wallon, David D; Rovelet-Lecrux, Anne A; Lacour, Morgane M; Rousseau, Stéphane S; Richard, Anne-Claire AC; Pasquier, Florence F; Rollin-Sillaire, Adeline A; Martinaud, Olivier O; Quillard-Muraine, Muriel M; de la Sayette, Vincent V; Boutoleau-Bretonniere, Claire C; Etcharry-Bouyx, Frédérique F; Chauviré, Valérie V; Sarazin, Marie M; le Ber, Isabelle I; Epelbaum, Stéphane S; Jonveaux, Thérèse T; Rouaud, Olivier O; Ceccaldi, Mathieu M; Félician, Olivier O; Godefroy, Olivier O; Formaglio, Maite M; Croisile, Bernard B; Auriacombe, Sophie S; Chamard, Ludivine L; Vincent, Jean-Louis JL; Sauvée, Mathilde M; Marelli-Tosi, Cecilia C; Gabelle, Audrey A; Ozsancak, Canan C; Pariente, Jérémie J; Paquet, Claire C; Hannequin, Didier D; Campion, Dominique D; ,
Publication Date: 2017-03

Variant appearance in text: PSEN1: 698T>C; Met233Thr
PubMed Link: 28350801
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease.

Clinical Interventions In Aging
An, Seong Soo SS; Park, Sun Ah SA; Bagyinszky, Eva E; Bae, Sun Oh SO; Kim, Yoon-Jeong YJ; Im, Ji Young JY; Park, Kyung Won KW; Park, Kee Hyung KH; Kim, Eun-Joo EJ; Jeong, Jee Hyang JH; Kim, Jong Hun JH; Han, Hyun Jeong HJ; Choi, Seong Hye SH; Kim, SangYun S
Publication Date: 2016

Variant appearance in text: PSEN1: M233T
PubMed Link: 28008242
Variant Present in the following documents:
  • Main text
  • cia-11-1817.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: Met233Thr
PubMed Link: 27799753
Variant Present in the following documents:
  • Main text
  • cia-11-1467.pdf
View BVdb publication page



Changes in the plasma proteome at asymptomatic and symptomatic stages of autosomal dominant Alzheimer's disease.

Scientific Reports
Muenchhoff, Julia J; Poljak, Anne A; Thalamuthu, Anbupalam A; Gupta, Veer B VB; Chatterjee, Pratishtha P; Raftery, Mark M; Masters, Colin L CL; Morris, John C JC; Bateman, Randall J RJ; Fagan, Anne M AM; Martins, Ralph N RN; Sachdev, Perminder S PS
Publication Date: 2016-07-06

Variant appearance in text: PSEN1: M233T
PubMed Link: 27381087
Variant Present in the following documents:
  • Main text
  • srep29078.pdf
View BVdb publication page



Plasma Phospholipid and Sphingolipid Alterations in Presenilin1 Mutation Carriers: A Pilot Study.

Journal Of Alzheimer'S Disease : Jad
Chatterjee, Pratishtha P; Lim, Wei L F WL; Shui, Guanghou G; Gupta, Veer B VB; James, Ian I; Fagan, Anne M AM; Xiong, Chengjie C; Sohrabi, Hamid R HR; Taddei, Kevin K; Brown, Belinda M BM; Benzinger, Tammie T; Masters, Colin C; Snowden, Stuart G SG; Wenk, Marcus R MR; Bateman, Randall J RJ; Morris, John C JC; Martins, Ralph N RN
Publication Date: 2016

Variant appearance in text: PS1: Met233Thr
PubMed Link: 26836186
Variant Present in the following documents:
  • Main text
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: M233T
PubMed Link: 26252541
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular mechanism of the intramembrane cleavage of the β-carboxyl terminal fragment of amyloid precursor protein by γ-secretase.

Frontiers In Physiology
Morishima-Kawashima, Maho M
Publication Date: 2014

Variant appearance in text: PS1: M233T
PubMed Link: 25505888
Variant Present in the following documents:
  • Main text
  • fphys-05-00463.pdf
View BVdb publication page



Octodon degus: a strong attractor for Alzheimer research.

Basic And Clinical Neuroscience
Castro-Fuentes, Rafael R; Socas-Pérez, Rosario R
Publication Date: 2013

Variant appearance in text: PS1: M233T
PubMed Link: 25337333
Variant Present in the following documents:
  • Main text
  • BCN-4-091.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: Met233Thr
PubMed Link: 25217249
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation analysis of patients with neurodegenerative disorders using NeuroX array.

Neurobiology Of Aging
Ghani, Mahdi M; Lang, Anthony E AE; Zinman, Lorne L; Nacmias, Benedetta B; Sorbi, Sandro S; Bessi, Valentina V; Tedde, Andrea A; Tartaglia, Maria Carmela MC; Surace, Ezequiel I EI; Sato, Christine C; Moreno, Danielle D; Xi, Zhengrui Z; Hung, Rachel R; Nalls, Mike A MA; Singleton, Andrew A; St George-Hyslop, Peter P; Rogaeva, Ekaterina E
Publication Date: 2015-01

Variant appearance in text: PSEN1: M233T; rs63751024
PubMed Link: 25174650
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: M233T
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: M233T
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: Met233Thr
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: M233T
PubMed Link: 24694184
Variant Present in the following documents:
  • Main text
View BVdb publication page



Early onset Alzheimer's disease and oxidative stress.

Oxidative Medicine And Cellular Longevity
Meraz-Ríos, Marco Antonio MA; Franco-Bocanegra, Diana D; Toral Rios, Danira D; Campos-Peña, Victoria V
Publication Date: 2014

Variant appearance in text: PS1: M233T
PubMed Link: 24669286
Variant Present in the following documents:
  • Main text
View BVdb publication page



Imaging of cerebrovascular pathology in animal models of Alzheimer's disease.

Frontiers In Aging Neuroscience
Klohs, Jan J; Rudin, Markus M; Shimshek, Derya R DR; Beckmann, Nicolau N
Publication Date: 2014

Variant appearance in text: PS1: M233T
PubMed Link: 24659966
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: M233T
PubMed Link: 24377094
Variant Present in the following documents:
  • Main text
  • BMRI2013-689591.pdf
View BVdb publication page



Biological function of Presenilin and its role in AD pathogenesis.

Translational Neurodegeneration
Zhang, Shuting S; Zhang, Mingming M; Cai, Fang F; Song, Weihong W
Publication Date: 2013-07-17

Variant appearance in text: PS1: M233T
PubMed Link: 23866842
Variant Present in the following documents:
  • Main text
View BVdb publication page



The isotropic fractionator provides evidence for differential loss of hippocampal neurons in two mouse models of Alzheimer's disease.

Molecular Neurodegeneration
Brautigam, Hannah H; Steele, John W JW; Westaway, David D; Fraser, Paul E PE; St George-Hyslop, Peter H PH; Gandy, Sam S; Hof, Patrick R PR; Dickstein, Dara L DL
Publication Date: 2012-11-22

Variant appearance in text: PS1: M233T
PubMed Link: 23173713
Variant Present in the following documents:
  • Main text
  • 1750-1326-7-58.pdf
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: M233T
PubMed Link: 23089603
Variant Present in the following documents:
  • Main text
View BVdb publication page