PSEN1 c.1153G>A ;(p.D385N)

Variant ID: 14-73683857-G-A

NM_000021.3(PSEN1):c.1153G>A;(p.D385N)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Human iPSC-Derived Neural Models for Studying Alzheimer's Disease: from Neural Stem Cells to Cerebral Organoids.

Stem Cell Reviews And Reports
Barak, Martin M; Fedorova, Veronika V; Pospisilova, Veronika V; Raska, Jan J; Vochyanova, Simona S; Sedmik, Jiri J; Hribkova, Hana H; Klimova, Hana H; Vanova, Tereza T; Bohaciakova, Dasa D
Publication Date: 2022-02

Variant appearance in text: PSEN1: D385N
PubMed Link: 35107767
Variant Present in the following documents:
  • Main text
  • 12015_2021_Article_10254.pdf
View BVdb publication page



Using human induced pluripotent stem cells (hiPSCs) to investigate the mechanisms by which Apolipoprotein E (APOE) contributes to Alzheimer's disease (AD) risk.

Neurobiology Of Disease
Raman, Sreedevi S; Brookhouser, Nicholas N; Brafman, David A DA
Publication Date: 2020-05

Variant appearance in text: PSEN1: D385N
PubMed Link: 32032733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recent Advances: Decoding Alzheimer's Disease With Stem Cells.

Frontiers In Aging Neuroscience
Fang, Yi Y; Gao, Ting T; Zhang, Baorong B; Pu, Jiali J
Publication Date: 2018

Variant appearance in text: PS1: D385N
PubMed Link: 29623038
Variant Present in the following documents:
  • Main text
  • fnagi-10-00077.pdf
View BVdb publication page



Modeling Alzheimer's disease with human induced pluripotent stem (iPS) cells.

Molecular And Cellular Neurosciences
Mungenast, Alison E AE; Siegert, Sandra S; Tsai, Li-Huei LH
Publication Date: 2016-06

Variant appearance in text: PSEN1: D385N
PubMed Link: 26657644
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteolytic Processing of Neuregulin 1 Type III by Three Intramembrane-cleaving Proteases.

The Journal Of Biological Chemistry
Fleck, Daniel D; Voss, Matthias M; Brankatschk, Ben B; Giudici, Camilla C; Hampel, Heike H; Schwenk, Benjamin B; Edbauer, Dieter D; Fukumori, Akio A; Steiner, Harald H; Kremmer, Elisabeth E; Haug-Kröper, Martina M; Rossner, Moritz J MJ; Fluhrer, Regina R; Willem, Michael M; Haass, Christian C
Publication Date: 2016-01-01

Variant appearance in text: PS1: D385N
PubMed Link: 26574544
Variant Present in the following documents:
  • Main text
View BVdb publication page



Induced Pluripotent Stem Cells Derived from Alzheimer's Disease Patients: The Promise, the Hope and the Path Ahead.

Journal Of Clinical Medicine
Freude, Kristine K; Pires, Carlota C; Hyttel, Poul P; Hall, Vanessa Jane VJ
Publication Date: 2014-12-12

Variant appearance in text: PSEN1: D385N
PubMed Link: 26237610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of tetrahydrocarbazoles as novel multifactorial drug candidates for treatment of Alzheimer's disease.

Translational Psychiatry
Honarnejad, K K; Daschner, A A; Gehring, A P AP; Szybinska, A A; Giese, A A; Kuznicki, J J; Bracher, F F; Herms, J J
Publication Date: 2014-12-16

Variant appearance in text: PS1: D385N
PubMed Link: 25514752
Variant Present in the following documents:
  • Main text
  • tp2014132a.pdf
View BVdb publication page



Development and implementation of a high-throughput compound screening assay for targeting disrupted ER calcium homeostasis in Alzheimer's disease.

Plos One
Honarnejad, Kamran K; Daschner, Alexander A; Giese, Armin A; Zall, Andrea A; Schmidt, Boris B; Szybinska, Aleksandra A; Kuznicki, Jacek J; Herms, Jochen J
Publication Date: 2013

Variant appearance in text: PS1: D385N
PubMed Link: 24260442
Variant Present in the following documents:
  • Main text
  • pone.0080645.pdf
View BVdb publication page



Involvement of presenilin holoprotein upregulation in calcium dyshomeostasis of Alzheimer's disease.

Journal Of Cellular And Molecular Medicine
Honarnejad, Kamran K; Jung, Christian K E CK; Lammich, Sven S; Arzberger, Thomas T; Kretzschmar, Hans H; Herms, Jochen J
Publication Date: 2013-02

Variant appearance in text: PS1: D385N
PubMed Link: 23379308
Variant Present in the following documents:
  • Main text
  • jcmm0017-0293.pdf
View BVdb publication page



Alzheimer's disease in a dish: promises and challenges of human stem cell models.

Human Molecular Genetics
Young, Jessica E JE; Goldstein, Lawrence S B LS
Publication Date: 2012-10-15

Variant appearance in text: PS1: D385N
PubMed Link: 22865875
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rapid and direct transport of cell surface APP to the lysosome defines a novel selective pathway.

Molecular Brain
Lorenzen, Angela A; Samosh, Jonathan J; Vandewark, Kenneth K; Anborgh, Pieter H PH; Seah, Claudia C; Magalhaes, Ana C AC; Cregan, Sean P SP; Ferguson, Stephen S G SS; Pasternak, Stephen H SH
Publication Date: 2010-04-21

Variant appearance in text: PS1: D385N
PubMed Link: 20409323
Variant Present in the following documents:
  • Main text
View BVdb publication page



Klotho is a substrate for alpha-, beta- and gamma-secretase.

Febs Letters
Bloch, Laura L; Sineshchekova, Olga O; Reichenbach, Daniela D; Reiss, Karina K; Saftig, Paul P; Kuro-o, Makoto M; Kaether, Christoph C
Publication Date: 2009-10-06

Variant appearance in text: PS1: D385N
PubMed Link: 19737556
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nuclear translocation and signalling of L1-CAM in human carcinoma cells requires ADAM10 and presenilin/gamma-secretase activity.

The Biochemical Journal
Riedle, Svenja S; Kiefel, Helena H; Gast, Daniela D; Bondong, Sandra S; Wolterink, Silke S; Gutwein, Paul P; Altevogt, Peter P
Publication Date: 2009-05-27

Variant appearance in text: PS1: D385N
PubMed Link: 19260824
Variant Present in the following documents:
  • Main text
  • bj4200391.pdf
  • bj4200391add.pdf
View BVdb publication page



Regulation of Notch signaling by dynamic changes in the precision of S3 cleavage of Notch-1.

Molecular And Cellular Biology
Tagami, Shinji S; Okochi, Masayasu M; Yanagida, Kanta K; Ikuta, Akiko A; Fukumori, Akio A; Matsumoto, Naohiko N; Ishizuka-Katsura, Yoshiko Y; Nakayama, Taisuke T; Itoh, Naohiro N; Jiang, Jingwei J; Nishitomi, Kouhei K; Kamino, Kouzin K; Morihara, Takashi T; Hashimoto, Ryota R; Tanaka, Toshihisa T; Kudo, Takashi T; Chiba, Shigeru S; Takeda, Masatoshi M
Publication Date: 2008-01

Variant appearance in text: PS1: D385N
PubMed Link: 17967888
Variant Present in the following documents:
  • Main text
View BVdb publication page



Furin-, ADAM 10-, and gamma-secretase-mediated cleavage of a receptor tyrosine phosphatase and regulation of beta-catenin's transcriptional activity.

Molecular And Cellular Biology
Anders, Lars L; Mertins, Philipp P; Lammich, Sven S; Murgia, Marta M; Hartmann, Dieter D; Saftig, Paul P; Haass, Christian C; Ullrich, Axel A
Publication Date: 2006-05

Variant appearance in text: PS1: D385N
PubMed Link: 16648485
Variant Present in the following documents:
  • Main text
View BVdb publication page



Shedding and gamma-secretase-mediated intramembrane proteolysis of the mucin-type molecule CD43.

The Biochemical Journal
Andersson, Christian X CX; Fernandez-Rodriguez, Julia J; Laos, Sirle S; Baeckström, Dan D; Haass, Christian C; Hansson, Gunnar C GC
Publication Date: 2005-04-15

Variant appearance in text: PS1: D385N
PubMed Link: 15540986
Variant Present in the following documents:
  • Main text
View BVdb publication page



Presenilins mediate a dual intramembranous gamma-secretase cleavage of Notch-1.

The Embo Journal
Okochi, Masayasu M; Steiner, Harald H; Fukumori, Akio A; Tanii, Hisashi H; Tomita, Taisuke T; Tanaka, Toshihisa T; Iwatsubo, Takeshi T; Kudo, Takashi T; Takeda, Masatoshi M; Haass, Christian C
Publication Date: 2002-10-15

Variant appearance in text: PS1: D385N
PubMed Link: 12374741
Variant Present in the following documents:
  • Main text
View BVdb publication page



Presenilin-1 affects trafficking and processing of betaAPP and is targeted in a complex with nicastrin to the plasma membrane.

The Journal Of Cell Biology
Kaether, Christoph C; Lammich, Sven S; Edbauer, Dieter D; Ertl, Michaela M; Rietdorf, Jens J; Capell, Anja A; Steiner, Harald H; Haass, Christian C
Publication Date: 2002-08-05

Variant appearance in text: PS1: D385N
PubMed Link: 12147673
Variant Present in the following documents:
  • Main text
  • 200201123.pdf
View BVdb publication page



Presenilin-dependent gamma-secretase processing of beta-amyloid precursor protein at a site corresponding to the S3 cleavage of Notch.

Embo Reports
Sastre, M M; Steiner, H H; Fuchs, K K; Capell, A A; Multhaup, G G; Condron, M M MM; Teplow, D B DB; Haass, C C
Publication Date: 2001-09

Variant appearance in text: PS1: D385N
PubMed Link: 11520861
Variant Present in the following documents:
  • Main text
View BVdb publication page