Variant ID: 14-73640373-G-T

NM_000021.3(PSEN1):c.438G>T;(p.Met146Ile)

This variant was identified in 40 publications




Publications:


Tumour necrosis factor induces increased production of extracellular amyloid-β- and α-synuclein-containing aggregates by human Alzheimer's disease neurons.

Brain Communications
DR Whiten, PW Brownjohn, S Moore, S De, A Strano, Y Zuo, M Haneklaus, D Klenerman, FJ Livesey
Publication Date: 2020

Variant appearance in text: PSEN1: M146I
PubMed Link: 33543132
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.

Cell Reports
C Arber, C Lovejoy, L Harris, N Willumsen, A Alatza, JM Casey, G Lines, C Kerins, AK Mueller, H Zetterberg, J Hardy, NS Ryan, NC Fox, T Lashley, S Wray
Publication Date: 2021-01-12

Variant appearance in text: PSEN1: M146I
PubMed Link: 33440141
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational analysis in familial Alzheimer's disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile.

Scientific Reports
YS Lin, CY Cheng, YC Liao, CJ Hong, JL Fuh
Publication Date: 2020-11-13

Variant appearance in text: N/A
PubMed Link: 33188256
Variant Present in the following documents:
View BVdb publication page



Modeling neurodegenerative diseases with cerebral organoids and other three-dimensional culture systems: focus on Alzheimer's disease.

Stem Cell Reviews And Reports
L Venkataraman, SR Fair, CA McElroy, ME Hester, H Fu
Publication Date: 2020-11-12

Variant appearance in text: PSEN1: M146I
PubMed Link: 33180261
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of dementia: insights from Latin America.

Dementia & Neuropsychologia
C Ramos, D Aguillon, C Cordano, F Lopera
Publication Date: 2020

Variant appearance in text: PSEN1: M146I
PubMed Link: 32973976
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human Pluripotent Stem Cell-Derived Neural Cells as a Relevant Platform for Drug Screening in Alzheimer's Disease.

International Journal Of Molecular Sciences
JA Garcia-Leon, L Caceres-Palomo, E Sanchez-Mejias, M Mejias-Ortega, C Nuñez-Diaz, JJ Fernandez-Valenzuela, R Sanchez-Varo, JC Davila, J Vitorica, A Gutierrez
Publication Date: 2020-09-18

Variant appearance in text: PSEN1: M146I
PubMed Link: 32962164
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Application of Genetically Engineered Pigs in Biomedical Research.

Genes
M Hryhorowicz, D Lipiński, S Hryhorowicz, A Nowak-Terpiłowska, N Ryczek, J Zeyland
Publication Date: 2020-06-19

Variant appearance in text: PSEN1: Met146Ile
PubMed Link: 32575461
Variant Present in the following documents:
  • Supplemental file
  • Main text
  • genes-11-00670.pdf
View BVdb publication page



Amyloid precursor protein processing in human neurons with an allelic series of the PSEN1 intron 4 deletion mutation and total presenilin-1 knockout.

Brain Communications
C Arber, C Villegas-Llerena, J Toombs, JM Pocock, NS Ryan, NC Fox, H Zetterberg, J Hardy, S Wray
Publication Date: 2019

Variant appearance in text: PSEN1: M146I
PubMed Link: 32395715
Variant Present in the following documents:
  • EMS86351.pdf
  • Main text
View BVdb publication page



Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications
JS Park, J Lee, ES Jung, MH Kim, IB Kim, H Son, S Kim, S Kim, YM Park, I Mook-Jung, SJ Yu, JH Lee
Publication Date: 2019-07-12

Variant appearance in text: N/A
PubMed Link: 31300647
Variant Present in the following documents:
View BVdb publication page



Modeling Alzheimer's disease with human iPS cells: advancements, lessons, and applications.

Neurobiology Of Disease
S Essayan-Perez, B Zhou, AM Nabet, M Wernig, YA Huang
Publication Date: 2019-10

Variant appearance in text: N/A
PubMed Link: 31202913
Variant Present in the following documents:
View BVdb publication page



Familial Alzheimer's disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta.

Molecular Psychiatry
C Arber, J Toombs, C Lovejoy, NS Ryan, RW Paterson, N Willumsen, E Gkanatsiou, E Portelius, K Blennow, A Heslegrave, JM Schott, J Hardy, T Lashley, NC Fox, H Zetterberg, S Wray
Publication Date: 2020-11

Variant appearance in text: PSEN1: M146I
PubMed Link: 30980041
Variant Present in the following documents:
  • Main text
View BVdb publication page



Opportunities and challenges for the use of induced pluripotent stem cells in modelling neurodegenerative disease.

Open Biology
YY Wu, FL Chiu, CS Yeh, HC Kuo
Publication Date: 2019-01-31

Variant appearance in text: PSEN1: M146I
PubMed Link: 30958120
Variant Present in the following documents:
  • Main text
View BVdb publication page



Important advances in Alzheimer's disease from the use of induced pluripotent stem cells.

Journal Of Biomedical Science
F Majolo, DR Marinowic, DC Machado, JC Da Costa
Publication Date: 2019-02-06

Variant appearance in text: PS1: M146I
PubMed Link: 30728025
Variant Present in the following documents:
  • Main text
View BVdb publication page



Altered γ-Secretase Processing of APP Disrupts Lysosome and Autophagosome Function in Monogenic Alzheimer's Disease.

Cell Reports
COY Hung, FJ Livesey
Publication Date: 2018-12-26

Variant appearance in text: PSEN1: M146I
PubMed Link: 30590039
Variant Present in the following documents:
  • mmc1.pdf
  • Main text
  • mmc2.pdf
View BVdb publication page



Synaptic dysfunction in neurodegenerative and neurodevelopmental diseases: an overview of induced pluripotent stem-cell-based disease models.

Open Biology
E Taoufik, G Kouroupi, O Zygogianni, R Matsas
Publication Date: 2018-09

Variant appearance in text: PSEN1: M146I
PubMed Link: 30185603
Variant Present in the following documents:
  • Main text
View BVdb publication page



APOE4 Causes Widespread Molecular and Cellular Alterations Associated with Alzheimer's Disease Phenotypes in Human iPSC-Derived Brain Cell Types.

Neuron
YT Lin, J Seo, F Gao, HM Feldman, HL Wen, J Penney, HP Cam, E Gjoneska, WK Raja, J Cheng, R Rueda, O Kritskiy, F Abdurrob, Z Peng, B Milo, CJ Yu, S Elmsaouri, D Dey, T Ko, BA Yankner, LH Tsai
Publication Date: 2018-06-27

Variant appearance in text: PSEN1: M146I
PubMed Link: 29861287
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetically engineered pigs as models for human disease.

Disease Models & Mechanisms
C Perleberg, A Kind, A Schnieke
Publication Date: 2018-01-22

Variant appearance in text: N/A
PubMed Link: 29419487
Variant Present in the following documents:
View BVdb publication page



Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.

Oncotarget
AP Grigorenko, YK Moliaka, OV Plotnikova, A Smirnov, VA Nikishina, AY Goltsov, F Gusev, TV Andreeva, O Nelson, I Bezprozvanny, EI Rogaev
Publication Date: 2017-10-10

Variant appearance in text: N/A
PubMed Link: 29137240
Variant Present in the following documents:
View BVdb publication page



Distinct 18F-AV-1451 tau PET retention patterns in early- and late-onset Alzheimer's disease.

Brain : A Journal Of Neurology
M Schöll, R Ossenkoppele, O Strandberg, S Palmqvist, , J Jögi, T Ohlsson, R Smith, O Hansson
Publication Date: 2017-09-01

Variant appearance in text: PSEN1: Met146Ile
PubMed Link: 29050382
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Stem cell models of Alzheimer's disease: progress and challenges.

Alzheimer'S Research & Therapy
C Arber, C Lovejoy, S Wray
Publication Date: 2017-06-13

Variant appearance in text: PSEN1: M146I
PubMed Link: 28610595
Variant Present in the following documents:
  • Main text
View BVdb publication page



Modeling tau pathology in human stem cell derived neurons.

Brain Pathology (Zurich, Switzerland)
S Wray
Publication Date: 2017-07

Variant appearance in text: PSEN1: M146I
PubMed Link: 28585382
Variant Present in the following documents:
  • Supplemental file
  • Main text
View BVdb publication page



An Aberrant Phosphorylation of Amyloid Precursor Protein Tyrosine Regulates Its Trafficking and the Binding to the Clathrin Endocytic Complex in Neural Stem Cells of Alzheimer's Disease Patients.

Frontiers In Molecular Neuroscience
ET Poulsen, F Iannuzzi, HF Rasmussen, TJ Maier, JJ Enghild, AL Jørgensen, C Matrone
Publication Date: 2017

Variant appearance in text: N/A
PubMed Link: 28360834
Variant Present in the following documents:
View BVdb publication page



Phenotypic Screening Identifies Modulators of Amyloid Precursor Protein Processing in Human Stem Cell Models of Alzheimer's Disease.

Stem Cell Reports
PW Brownjohn, J Smith, E Portelius, L Serneels, H Kvartsberg, B De Strooper, K Blennow, H Zetterberg, FJ Livesey
Publication Date: 2017-04-11

Variant appearance in text: PSEN1: M146I
PubMed Link: 28285880
Variant Present in the following documents:
  • mmc2.pdf
  • Main text
View BVdb publication page



Induced pluripotent stem cell technology: a decade of progress.

Nature Reviews. Drug Discovery
Y Shi, H Inoue, JC Wu, S Yamanaka
Publication Date: 2017-02

Variant appearance in text: N/A
PubMed Link: 27980341
Variant Present in the following documents:
View BVdb publication page



3D culture models of Alzheimer's disease: a road map to a "cure-in-a-dish".

Molecular Neurodegeneration
SH Choi, YH Kim, L Quinti, RE Tanzi, DY Kim
Publication Date: 2016-12-09

Variant appearance in text: N/A
PubMed Link: 27938410
Variant Present in the following documents:
View BVdb publication page



Self-Organizing 3D Human Neural Tissue Derived from Induced Pluripotent Stem Cells Recapitulate Alzheimer's Disease Phenotypes.

Plos One
WK Raja, AE Mungenast, YT Lin, T Ko, F Abdurrob, J Seo, LH Tsai
Publication Date: 2016

Variant appearance in text: PSEN1: M146I
PubMed Link: 27622770
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Journal Of Alzheimer'S Disease : Jad
P Chatterjee, WL Lim, G Shui, VB Gupta, I James, AM Fagan, C Xiong, HR Sohrabi, K Taddei, BM Brown, T Benzinger, C Masters, SG Snowden, MR Wenk, RJ Bateman, JC Morris, RN Martins
Publication Date: 2016

Variant appearance in text: N/A
PubMed Link: 26836186
Variant Present in the following documents:
View BVdb publication page



Reduction of increased calcineurin activity rescues impaired homeostatic synaptic plasticity in presenilin 1 M146V mutant.

Neurobiology Of Aging
S Kim, CJ Violette, EB Ziff
Publication Date: 2015-12

Variant appearance in text: N/A
PubMed Link: 26455952
Variant Present in the following documents:
View BVdb publication page



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

Bioessays : News And Reviews In Molecular, Cellular And Developmental Biology
C D'Avanzo, J Aronson, YH Kim, SH Choi, RE Tanzi, DY Kim
Publication Date: 2015-10

Variant appearance in text: N/A
PubMed Link: 26252541
Variant Present in the following documents:
View BVdb publication page



APP metabolism regulates tau proteostasis in human cerebral cortex neurons.

Cell Reports
S Moore, LD Evans, T Andersson, E Portelius, J Smith, TB Dias, N Saurat, A McGlade, P Kirwan, K Blennow, J Hardy, H Zetterberg, FJ Livesey
Publication Date: 2015-05-05

Variant appearance in text: PSEN1: M146I
PubMed Link: 25921538
Variant Present in the following documents:
  • mmc1.pdf
  • Main text
  • mmc4.pdf
View BVdb publication page



Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Current Neurology And Neuroscience Reports
JM Ringman, A Goate, CL Masters, NJ Cairns, A Danek, N Graff-Radford, B Ghetti, JC Morris,
Publication Date: 2014-11

Variant appearance in text: PSEN1: Met146Ile
PubMed Link: 25217249
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of Alzheimer's disease.

Clinical Interventions In Aging
E Bagyinszky, YC Youn, SS An, S Kim
Publication Date: 2014

Variant appearance in text: PSEN1: Met146Ile
PubMed Link: 24729694
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
A Pilotto, A Padovani, B Borroni
Publication Date: 2013

Variant appearance in text: N/A
PubMed Link: 24377094
Variant Present in the following documents:
View BVdb publication page



Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer's disease.

Brain : A Journal Of Neurology
NS Ryan, S Keihaninejad, TJ Shakespeare, M Lehmann, SJ Crutch, IB Malone, JS Thornton, L Mancini, H Hyare, T Yousry, GR Ridgway, H Zhang, M Modat, DC Alexander, MN Rossor, S Ourselin, NC Fox
Publication Date: 2013-05

Variant appearance in text: PSEN1: M146I
PubMed Link: 23539189
Variant Present in the following documents:
  • Main text
View BVdb publication page



Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.

Plos One
S Wray, M Self, , , , PA Lewis, JW Taanman, NS Ryan, CJ Mahoney, Y Liang, MJ Devine, UM Sheerin, H Houlden, HR Morris, D Healy, JF Marti-Masso, E Preza, S Barker, M Sutherland, RA Corriveau, M D'Andrea, AH Schapira, RJ Uitti, M Guttman, G Opala, B Jasinska-Myga, A Puschmann, C Nilsson, AJ Espay, J Slawek, L Gutmann, BF Boeve, K Boylan, AJ Stoessl, OA Ross, NJ Maragakis, J Van Gerpen, M Gerstenhaber, K Gwinn, TM Dawson, O Isacson, KS Marder, LN Clark, SE Przedborski, S Finkbeiner, JD Rothstein, ZK Wszolek, MN Rossor, J Hardy
Publication Date: 2012

Variant appearance in text: PSEN1: M146I
PubMed Link: 22952635
Variant Present in the following documents:
  • pone.0043099.s001.docx
  • Main text
View BVdb publication page



Carbon-11-Pittsburgh compound B positron emission tomography imaging of amyloid deposition in presenilin 1 mutation carriers.

Brain : A Journal Of Neurology
WD Knight, AA Okello, NS Ryan, FE Turkheimer, S Rodríguez Martinez de Llano, P Edison, J Douglas, NC Fox, DJ Brooks, MN Rossor
Publication Date: 2011-01

Variant appearance in text: PSEN1: M146I
PubMed Link: 21084313
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.

Journal Of Alzheimer'S Disease : Jad
O Nelson, C Supnet, H Liu, I Bezprozvanny
Publication Date: 2010

Variant appearance in text: PS1: M146I
PubMed Link: 20634584
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prediction of disease-related mutations affecting protein localization.

Bmc Genomics
K Laurila, M Vihinen
Publication Date: 2009-03-23

Variant appearance in text: N/A
PubMed Link: 19309509
Variant Present in the following documents:
View BVdb publication page



Transgenic animal models of Alzheimer's disease and related disorders: histopathology, behavior and therapy.

Molecular Psychiatry
J Götz, JR Streffer, D David, A Schild, F Hoerndli, L Pennanen, P Kurosinski, F Chen
Publication Date: 2004-07

Variant appearance in text: PS1: M146I
PubMed Link: 15052274
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Autopsy-confirmed familial early-onset Alzheimer disease caused by the l153V presenilin 1 mutation.

Archives Of Neurology
JC Janssen, PL Lantos, NC Fox, RJ Harvey, J Beck, A Dickinson, TA Campbell, J Collinge, DP Hanger, L Cipolotti, JM Stevens, MN Rossor
Publication Date: 2001-06

Variant appearance in text: PSEN1: M146I
PubMed Link: 11405810
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000261970.3 c.438G>T p.Met146Ile missense_variant 5/11 -
ENST00000324501.5 c.438G>T p.Met146Ile missense_variant 5/12 -
ENST00000344094.3 c.438G>T p.Met146Ile missense_variant 5/13 -
ENST00000357710.4 c.426G>T p.Met142Ile missense_variant 5/12 -
ENST00000394157.3 c.438G>T p.Met146Ile missense_variant 5/5 -
ENST00000394164.1 c.426G>T p.Met142Ile missense_variant 5/12 -
ENST00000406768.1 c.162G>T p.Met54Ile missense_variant 3/10 -
ENST00000553719.1 c.426G>T p.Met142Ile missense_variant 5/5 -
ENST00000553855.1 c.438G>T p.Met146Ile missense_variant,NMD_transcript_variant 3/10 -
ENST00000555254.1 c.438G>T p.Met146Ile missense_variant 5/5 -
ENST00000555386.1 c.426G>T p.Met142Ile missense_variant,NMD_transcript_variant 3/11 -
ENST00000557511.1 c.438G>T p.Met146Ile missense_variant 3/9 -
ENST00000559361.1 c.*382G>T - 3_prime_UTR_variant,NMD_transcript_variant 6/6 -
NM_000021.4 c.438G>T p.Met146Ile missense_variant 5/12 -
NM_007318.3 c.426G>T p.Met142Ile missense_variant 5/12 -