PSEN1 c.548G>T ;(p.G183V)

Variant ID: 14-73653628-G-T

NM_000021.3(PSEN1):c.548G>T;(p.G183V)

This variant was identified in 32 publications

View GRCh38 version.




Publications:


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: 548G>T
PubMed Link: 37176125
Variant Present in the following documents:
  • Main text
  • ijms-24-08417.pdf
View BVdb publication page



Rapid, scalable assay of amylin-β amyloid co-aggregation in brain tissue and blood.

The Journal Of Biological Chemistry
Kotiya, Deepak D; Leibold, Noah N; Verma, Nirmal N; Jicha, Gregory A GA; Goldstein, Larry B LB; Despa, Florin F
Publication Date: 2023-04-06

Variant appearance in text: PS1: 548G>T
PubMed Link: 37030503
Variant Present in the following documents:
  • main.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: 548G>T; Gly183Val
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



The Advance on Frontotemporal Dementia (FTD)'s Neuropathology and Molecular Genetics.

Mediators Of Inflammation
Wang, Jindong J; Wang, Bailing B; Zhou, Tiantian T
Publication Date: 2022

Variant appearance in text: PSEN1: G183V
PubMed Link: 36274975
Variant Present in the following documents:
  • MI2022-5003902.pdf
View BVdb publication page



Hypothesis review: Alzheimer's overture guidelines.

Brain Pathology (Zurich, Switzerland)
Ferrer, Isidro I
Publication Date: 2022-10-12

Variant appearance in text: PS1: Gly183Val
PubMed Link: 36223647
Variant Present in the following documents:
  • Main text
  • BPA-33-e13122.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: Gly183Val
PubMed Link: 36142879
Variant Present in the following documents:
  • Main text
  • ijms-23-10970.pdf
View BVdb publication page



Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.

Genome Medicine
Perrone, Federica F; Cacace, Rita R; van der Zee, Julie J; Van Broeckhoven, Christine C
Publication Date: 2021-04-14

Variant appearance in text: PSEN1: G183V
PubMed Link: 33853652
Variant Present in the following documents:
  • Main text
  • 13073_2021_Article_878.pdf
View BVdb publication page



Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

Alzheimer'S Research & Therapy
Perrone, Federica F; Bjerke, Maria M; Hens, Elisabeth E; Sieben, Anne A; Timmers, Maarten M; De Roeck, Arne A; Vandenberghe, Rik R; Sleegers, Kristel K; Martin, Jean-Jacques JJ; De Deyn, Peter P PP; Engelborghs, Sebastiaan S; van der Zee, Julie J; Van Broeckhoven, Christine C; Cacace, Rita R; ,
Publication Date: 2020-09-11

Variant appearance in text: PSEN1: G183V
PubMed Link: 32917274
Variant Present in the following documents:
  • Main text
  • 13195_2020_Article_676.pdf
View BVdb publication page



Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)
Senanarong, Vorapun V; An, Seong Soo A SSA; Vo Van, Giau G; Limwongse, Chanin C; Bagyinszky, Eva E; Kim, SangYun S
Publication Date: 2020-03-01

Variant appearance in text: PSEN1: Gly183Val
PubMed Link: 32121568
Variant Present in the following documents:
  • Main text
  • diagnostics-10-00135.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: 548G>T; Gly183Val
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Pathogenic variants that alter protein code often disrupt splicing.

Nature Genetics
Soemedi, Rachel R; Cygan, Kamil J KJ; Rhine, Christy L CL; Wang, Jing J; Bulacan, Charlston C; Yang, John J; Bayrak-Toydemir, Pinar P; McDonald, Jamie J; Fairbrother, William G WG
Publication Date: 2017-06

Variant appearance in text: PSEN1: 548G>T
PubMed Link: 28416821
Variant Present in the following documents:
  • NIHMS861030-supplement-4.pdf
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: PSEN1: 548G>T; G183V
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page



Molecular Genetics of Neurodegenerative Dementias.

Cold Spring Harbor Perspectives In Biology
Hinz, Flora I FI; Geschwind, Daniel H DH
Publication Date: 2017-04-03

Variant appearance in text: PSEN1: G183V
PubMed Link: 27940516
Variant Present in the following documents:
  • Main text
View BVdb publication page



PSEN1 L226F mutation in a patient with early-onset Alzheimer's disease in Korea.

Clinical Interventions In Aging
Bagyinszky, Eva E; Park, Sun Ah SA; Kim, Hyung Jun HJ; Choi, Seong Hye SH; An, Seong Soo A SS; Kim, Sang Yun SY
Publication Date: 2016

Variant appearance in text: PSEN1: G183V
PubMed Link: 27785004
Variant Present in the following documents:
  • Main text
  • cia-11-1433.pdf
View BVdb publication page



Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.

Frontiers In Aging Neuroscience
Li, Nuomin N; Liu, Kefu K; Qiu, Yunjie Y; Ren, Zehui Z; Dai, Rongji R; Deng, Yulin Y; Qing, Hong H
Publication Date: 2016

Variant appearance in text: PS1: G183V
PubMed Link: 27014058
Variant Present in the following documents:
  • Main text
  • fnagi-08-00051.pdf
View BVdb publication page



Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories.

Neuro-Degenerative Diseases
Tacik, Pawel P; Sanchez-Contreras, Monica M; Rademakers, Rosa R; Dickson, Dennis W DW; Wszolek, Zbigniew K ZK
Publication Date: 2016

Variant appearance in text: PSEN1: G183V
PubMed Link: 26550830
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analyzing and Quantifying the Gain-of-Function Enhancement of IP3 Receptor Gating by Familial Alzheimer's Disease-Causing Mutants in Presenilins.

Plos Computational Biology
Mak, Don-On Daniel DO; Cheung, King-Ho KH; Toglia, Patrick P; Foskett, J Kevin JK; Ullah, Ghanim G
Publication Date: 2015-10

Variant appearance in text: PS1: G183V
PubMed Link: 26439382
Variant Present in the following documents:
  • Main text
  • pcbi.1004529.pdf
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: Gly183Val
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
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: 548G>T
PubMed Link: 24377094
Variant Present in the following documents:
  • BMRI2013-689591.pdf
View BVdb publication page



Function and dysfunction of presenilin.

Neuro-Degenerative Diseases
Shen, Jie J
Publication Date: 2014

Variant appearance in text: PS1: 548G>T
PubMed Link: 24107444
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: G183V
PubMed Link: 24093083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial dementia with frontotemporal features associated with M146V presenilin-1 mutation.

Brain Pathology (Zurich, Switzerland)
Riudavets, Miguel A MA; Bartoloni, Leonardo L; Troncoso, Juan C JC; Pletnikova, Olga O; St George-Hyslop, Peter P; Schultz, Marcelo M; Sevlever, Gustavo G; Allegri, Ricardo F RF
Publication Date: 2013-09

Variant appearance in text: PSEN1: Gly183Val
PubMed Link: 23489366
Variant Present in the following documents:
  • Main text
View BVdb publication page



Advances in the pathogenesis of Alzheimer's disease: a re-evaluation of amyloid cascade hypothesis.

Translational Neurodegeneration
Dong, Suzhen S; Duan, Yale Y; Hu, Yinghe Y; Zhao, Zheng Z
Publication Date: 2012-09-21

Variant appearance in text: PS1: G183V
PubMed Link: 23210692
Variant Present in the following documents:
  • Main text
  • 2047-9158-1-18.pdf
View BVdb publication page



Familial frontotemporal dementia-associated presenilin-1 c.548G>T mutation causes decreased mRNA expression and reduced presenilin function in knock-in mice.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Watanabe, Hirotaka H; Xia, Dan D; Kanekiyo, Takahisa T; Kelleher, Raymond J RJ; Shen, Jie J
Publication Date: 2012-04-11

Variant appearance in text: PSEN1: 548G>T
PubMed Link: 22496554
Variant Present in the following documents:
  • Main text
View BVdb publication page



Presenilins in synaptic function and disease.

Trends In Molecular Medicine
Ho, Angela A; Shen, Jie J
Publication Date: 2011-11

Variant appearance in text: PS1: Gly183Val
PubMed Link: 21795114
Variant Present in the following documents:
  • Main text
View BVdb publication page



Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis.

Cell Calcium
Supnet, Charlene C; Bezprozvanny, Ilya I
Publication Date: 2011-09

Variant appearance in text: PS1: G183V
PubMed Link: 21663966
Variant Present in the following documents:
  • Main text
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
Nelson, Omar O; Supnet, Charlene C; Liu, Huarui H; Bezprozvanny, Ilya I
Publication Date: 2010

Variant appearance in text: PS1: G183V
PubMed Link: 20634584
Variant Present in the following documents:
  • Main text
View BVdb publication page



Presenilin/gamma-Secretase and Inflammation.

Frontiers In Aging Neuroscience
Saura, Carlos A CA
Publication Date: 2010

Variant appearance in text: PSEN1: G183V
PubMed Link: 20559464
Variant Present in the following documents:
  • Main text
  • fnagi-02-00016.pdf
View BVdb publication page



Gain-of-function enhancement of IP3 receptor modal gating by familial Alzheimer's disease-linked presenilin mutants in human cells and mouse neurons.

Science Signaling
Cheung, King-Ho KH; Mei, Lijuan L; Mak, Don-On Daniel DO; Hayashi, Ikuo I; Iwatsubo, Takeshi T; Kang, David E DE; Foskett, J Kevin JK
Publication Date: 2010-03-23

Variant appearance in text: PS1: G183V
PubMed Link: 20332427
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frontotemporal lobar degeneration: current concepts in the light of recent advances.

Brain Pathology (Zurich, Switzerland)
Kumar-Singh, Samir S; Van Broeckhoven, Christine C
Publication Date: 2007-01

Variant appearance in text: PSEN1: Gly183Val
PubMed Link: 17493044
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1.

The Journal Of Clinical Investigation
Nelson, Omar O; Tu, Huiping H; Lei, Tianhua T; Bentahir, Mostafa M; de Strooper, Bart B; Bezprozvanny, Ilya I
Publication Date: 2007-05

Variant appearance in text: PS1: G183V
PubMed Link: 17431506
Variant Present in the following documents:
  • Main text
View BVdb publication page



The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Shen, Jie J; Kelleher, Raymond J RJ
Publication Date: 2007-01-09

Variant appearance in text: PS1: G183V
PubMed Link: 17197420
Variant Present in the following documents:
  • Main text
View BVdb publication page