PSEN1 c.403A>G ;(p.N135D)

Variant ID: 14-73640338-A-G

NM_000021.3(PSEN1):c.403A>G;(p.N135D)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


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: Asn135Asp
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: N135D
PubMed Link: 35959289
Variant Present in the following documents:
  • Main text
  • fnagi-14-860529.pdf
View BVdb publication page



Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.

Molecular Psychiatry
Petit, Dieter D; Fernández, Sara Gutiérrez SG; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Ryan, Natalie S NS; O'Connor, Antoinette A; Szaruga, Maria M; Hill, Elizabeth E; Vandenberghe, Rik R; Fox, Nick C NC; Chávez-Gutiérrez, Lucía L
Publication Date: 2022-06

Variant appearance in text: PSEN1: N135D
PubMed Link: 35365805
Variant Present in the following documents:
  • Main text
  • 41380_2022_Article_1518.pdf
View BVdb publication page



SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.

Genes
Ruffo, Paola P; Perrone, Benedetta B; Conforti, Francesca Luisa FL
Publication Date: 2022-03-18

Variant appearance in text: PS1: 403A>G
PubMed Link: 35328090
Variant Present in the following documents:
  • genes-13-00537.pdf
View BVdb publication page



Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25

Variant appearance in text: PSEN1: N135D
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM6_ESM.xlsx, sheet 3
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: N135D
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

Neurobiology Of Aging
Wang, Jen-Chyong JC; Alinaghi, Somayeh S; Tafakhori, Abbas A; Sikora, Elizabeth E; Azcona, Luis J LJ; Karkheiran, Siamak S; Goate, Alison A; Paisán-Ruiz, Coro C; Darvish, Hossein H
Publication Date: 2018-02

Variant appearance in text: PSEN1: Asn135Asp
PubMed Link: 29175279
Variant Present in the following documents:
  • Main text
View BVdb publication page



ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurology. Genetics
Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF
Publication Date: 2017-08

Variant appearance in text: PSEN1: 403A>G
PubMed Link: 28717674
Variant Present in the following documents:
  • supp_3.4.e163_Table_e-1.xlsx, sheet 3
View BVdb publication page



Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.

Neurobiology Of Aging
Natelson Love, Marissa M; Clark, David G DG; Cochran, J Nicholas JN; Den Beste, Kyle A KA; Geldmacher, David S DS; Benzinger, Tammie L TL; Gordon, Brian A BA; Morris, John C JC; Bateman, Randall J RJ; Roberson, Erik D ED
Publication Date: 2017-01

Variant appearance in text: PSEN1: N135D
PubMed Link: 27793474
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cleavage of amyloid precursor protein by an archaeal presenilin homologue PSH.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Dang, Shangyu S; Wu, Shenjie S; Wang, Jiawei J; Li, Hongbo H; Huang, Min M; He, Wei W; Li, Yue-Ming YM; Wong, Catherine C L CC; Shi, Yigong Y
Publication Date: 2015-03-17

Variant appearance in text: PS1: N135D
PubMed Link: 25733893
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: Asn135Asp
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: N135D
PubMed Link: 24377094
Variant Present in the following documents:
  • BMRI2013-689591.pdf
View BVdb publication page



Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds.

The Journal Of Biological Chemistry
Kretner, Benedikt B; Fukumori, Akio A; Gutsmiedl, Amelie A; Page, Richard M RM; Luebbers, Thomas T; Galley, Guido G; Baumann, Karlheinz K; Haass, Christian C; Steiner, Harald H
Publication Date: 2011-04-29

Variant appearance in text: PS1: N135D
PubMed Link: 21357415
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: N135D
PubMed Link: 17197420
Variant Present in the following documents:
  • Main text
View BVdb publication page



Longer forms of amyloid beta protein: implications for the mechanism of intramembrane cleavage by gamma-secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Qi-Takahara, Yue Y; Morishima-Kawashima, Maho M; Tanimura, Yu Y; Dolios, Georgia G; Hirotani, Naoko N; Horikoshi, Yuko Y; Kametani, Fuyuki F; Maeda, Masahiro M; Saido, Takaomi C TC; Wang, Rong R; Ihara, Yasuo Y
Publication Date: 2005-01-12

Variant appearance in text: PS1: N135D
PubMed Link: 15647487
Variant Present in the following documents:
  • Main text
View BVdb publication page