PSEN1 c.552A>C ;(p.E184D)

Variant ID: 14-73659355-A-C

NM_000021.3(PSEN1):c.552A>C;(p.E184D)

This variant was identified in 25 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: Glu184Asp
PubMed Link: 37176125
Variant Present in the following documents:
  • Main text
  • ijms-24-08417.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: Glu184Asp
PubMed Link: 36142879
Variant Present in the following documents:
  • Main text
  • ijms-23-10970.pdf
View BVdb publication page



PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.

Frontiers In Aging Neuroscience
Orozco-Barajas, Maribel M; Oropeza-Ruvalcaba, Yulisa Y; Canales-Aguirre, Alejandro A AA; Sánchez-González, Victor J VJ
Publication Date: 2022

Variant appearance in text: PSEN1: E184D
PubMed Link: 35959289
Variant Present in the following documents:
  • Main text
  • fnagi-14-860529.pdf
View BVdb publication page



Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation.

Cells
Dang, Xiawei X; Walton, Emily K EK; Zablocka, Barbara B; Baloh, Robert H RH; Shy, Michael E ME; Dorn, Gerald W GW
Publication Date: 2022-03-21

Variant appearance in text: PSEN1: Glu184Asp
PubMed Link: 35326504
Variant Present in the following documents:
  • Main text
  • cells-11-01053.pdf
View BVdb publication page



Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

The American Journal Of Pathology
Kalaria, Rajesh N RN; Sepulveda-Falla, Diego D
Publication Date: 2021-11

Variant appearance in text: PSEN1: Glu184Asp
PubMed Link: 34331941
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)
Willumsen, Nanet N; Poole, Teresa T; Nicholas, Jennifer M JM; Fox, Nick C NC; Ryan, Natalie S NS; Lashley, Tammaryn T
Publication Date: 2022-05

Variant appearance in text: PSEN1: E184D
PubMed Link: 34319632
Variant Present in the following documents:
  • Main text
  • BPA-32-e13009.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: Glu184Asp
PubMed Link: 32121568
Variant Present in the following documents:
  • Main text
  • diagnostics-10-00135.pdf
View BVdb publication page



Conformational Dynamics of Transmembrane Domain 3 of Presenilin 1 Is Associated with the Trimming Activity of γ-Secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Cai, Tetsuo T; Morishima, Kanan K; Takagi-Niidome, Shizuka S; Tominaga, Aya A; Tomita, Taisuke T
Publication Date: 2019-10-23

Variant appearance in text: PS1: E184D
PubMed Link: 31527118
Variant Present in the following documents:
  • Main text
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: E184D
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



Diffuse Lewy Body Disease and Alzheimer Disease: Neuropathologic Phenotype Associated With the PSEN1 p.A396T Mutation.

Journal Of Neuropathology And Experimental Neurology
Gondim, Dibson D DD; Oblak, Adrian A; Murrell, Jill R JR; Richardson, Rose R; Epperson, Francine F; Ross, Owen A OA; Ghetti, Bernardino B
Publication Date: 2019-07-01

Variant appearance in text: PSEN1: E184D
PubMed Link: 31165862
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

International Journal Of Molecular Sciences
Giau, Vo Van VV; Senanarong, Vorapun V; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2019-03-26

Variant appearance in text: PSEN1: E184D
PubMed Link: 30917570
Variant Present in the following documents:
  • Main text
  • ijms-20-01514.pdf
View BVdb publication page



Blood-Brain Barrier: From Physiology to Disease and Back.

Physiological Reviews
Sweeney, Melanie D MD; Zhao, Zhen Z; Montagne, Axel A; Nelson, Amy R AR; Zlokovic, Berislav V BV
Publication Date: 2019-01-01

Variant appearance in text: PSEN1: E184D
PubMed Link: 30280653
Variant Present in the following documents:
  • Main text
View BVdb publication page



The intact postsynaptic protein neurogranin is reduced in brain tissue from patients with familial and sporadic Alzheimer's disease.

Acta Neuropathologica
Kvartsberg, Hlin H; Lashley, Tammaryn T; Murray, Christina E CE; Brinkmalm, Gunnar G; Cullen, Nicholas C NC; Höglund, Kina K; Zetterberg, Henrik H; Blennow, Kaj K; Portelius, Erik E
Publication Date: 2019-01

Variant appearance in text: PSEN1: E184D
PubMed Link: 30244311
Variant Present in the following documents:
  • Main text
  • 401_2018_Article_1910.pdf
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: E184D
PubMed Link: 29494861
Variant Present in the following documents:
  • Main text
View BVdb publication page



Direct Conversion of Human Fibroblasts into Neural Progenitors Using Transcription Factors Enriched in Human ESC-Derived Neural Progenitors.

Stem Cell Reports
Hou, Pei-Shan PS; Chuang, Ching-Yu CY; Yeh, Chan-Hsien CH; Chiang, Wei W; Liu, Hsiao-Jung HJ; Lin, Teng-Nan TN; Kuo, Hung-Chih HC
Publication Date: 2017-01-10

Variant appearance in text: PSEN1: E184D
PubMed Link: 27940274
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc2.pdf
  • main.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: Glu184Asp
PubMed Link: 27799753
Variant Present in the following documents:
  • Main text
  • cia-11-1467.pdf
View BVdb publication page



Sequestration of sorcin by aberrant forms of tau results in the defective calcium homeostasis.

The Korean Journal Of Physiology & Pharmacology : Official Journal Of The Korean Physiological Society And The Korean Society Of Pharmacology
Kim, Song-In SI; Lee, Hee Jae HJ; Kim, Sung-Soo SS; Kwon, Yong-Soo YS; Chun, Wanjoo W
Publication Date: 2016-07

Variant appearance in text: PS1: E184D
PubMed Link: 27382355
Variant Present in the following documents:
  • kjpp-20-387.pdf
View BVdb publication page



Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.

Journal Of Human Genetics
Kasuga, Kensaku K; Kikuchi, Masataka M; Tokutake, Takayoshi T; Nakaya, Akihiro A; Tezuka, Toshiyuki T; Tsukie, Tamao T; Hara, Norikazu N; Miyashita, Akinori A; Kuwano, Ryozo R; Ikeuchi, Takeshi T
Publication Date: 2015-05

Variant appearance in text: PSEN1: 552A>C; Glu184Asp
PubMed Link: 25694106
Variant Present in the following documents:
  • jhg201515x1.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: Glu184Asp
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
Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S
Publication Date: 2014

Variant appearance in text: PSEN1: Glu184Asp
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: E184D
PubMed Link: 24377094
Variant Present in the following documents:
  • Main text
  • BMRI2013-689591.pdf
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
Ryan, Natalie S NS; Keihaninejad, Shiva S; Shakespeare, Timothy J TJ; Lehmann, Manja M; Crutch, Sebastian J SJ; Malone, Ian B IB; Thornton, John S JS; Mancini, Laura L; Hyare, Harpreet H; Yousry, Tarek T; Ridgway, Gerard R GR; Zhang, Hui H; Modat, Marc M; Alexander, Daniel C DC; Rossor, Martin N MN; Ourselin, Sebastien S; Fox, Nick C NC
Publication Date: 2013-05

Variant appearance in text: PSEN1: E184D
PubMed Link: 23539189
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations.

Journal Of Alzheimer'S Disease : Jad
Scahill, Rachael I RI; Ridgway, Gerard R GR; Bartlett, Jonathan W JW; Barnes, Josephine J; Ryan, Natalie S NS; Mead, Simon S; Beck, Jonathan J; Clarkson, Matthew J MJ; Crutch, Sebastian J SJ; Schott, Jonathan M JM; Ourselin, Sebastien S; Warren, Jason D JD; Hardy, John J; Rossor, Martin N MN; Fox, Nick C NC
Publication Date: 2013

Variant appearance in text: PSEN1: E184D
PubMed Link: 23380992
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
Wray, Selina S; Self, Matthew M; , ; , ; , ; Lewis, Patrick A PA; Taanman, Jan-Willem JW; Ryan, Natalie S NS; Mahoney, Colin J CJ; Liang, Yuying Y; Devine, Michael J MJ; Sheerin, Una-Marie UM; Houlden, Henry H; Morris, Huw R HR; Healy, Daniel D; Marti-Masso, Jose-Felix JF; Preza, Elisavet E; Barker, Suzanne S; Sutherland, Margaret M; Corriveau, Roderick A RA; D'Andrea, Michael M; Schapira, Anthony H V AH; Uitti, Ryan J RJ; Guttman, Mark M; Opala, Grzegorz G; Jasinska-Myga, Barbara B; Puschmann, Andreas A; Nilsson, Christer C; Espay, Alberto J AJ; Slawek, Jaroslaw J; Gutmann, Ludwig L; Boeve, Bradley F BF; Boylan, Kevin K; Stoessl, A Jon AJ; Ross, Owen A OA; Maragakis, Nicholas J NJ; Van Gerpen, Jay J; Gerstenhaber, Melissa M; Gwinn, Katrina K; Dawson, Ted M TM; Isacson, Ole O; Marder, Karen S KS; Clark, Lorraine N LN; Przedborski, Serge E SE; Finkbeiner, Steven S; Rothstein, Jeffrey D JD; Wszolek, Zbigniew K ZK; Rossor, Martin N MN; Hardy, John J
Publication Date: 2012

Variant appearance in text: PSEN1: E184D
PubMed Link: 22952635
Variant Present in the following documents:
  • Main text
  • pone.0043099.pdf
View BVdb publication page



Enhanced accumulation of phosphorylated alpha-synuclein and elevated beta-amyloid 42/40 ratio caused by expression of the presenilin-1 deltaT440 mutant associated with familial Lewy body disease and variant Alzheimer's disease.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Kaneko, Hiroyuki H; Kakita, Akiyoshi A; Kasuga, Kensaku K; Nozaki, Hiroaki H; Ishikawa, Atsushi A; Miyashita, Akinori A; Kuwano, Ryozo R; Ito, Genta G; Iwatsubo, Takeshi T; Takahashi, Hitoshi H; Nishizawa, Masatoyo M; Onodera, Osamu O; Sisodia, Sangram S SS; Ikeuchi, Takeshi T
Publication Date: 2007-11-28

Variant appearance in text: PS1: E184D
PubMed Link: 18045903
Variant Present in the following documents:
  • Main text
View BVdb publication page