PSEN1 c.707T>A ;(p.V236E)

Variant ID: 14-73659510-T-A

NM_000021.3(PSEN1):c.707T>A;(p.V236E)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Discovery of a Missense Mutation (Q222K) of the APOE Gene from the Australian Imaging, Biomarker and Lifestyle Study.

Journal Of Alzheimer'S Disease Reports
Roberts, Blaine R BR; Laffoon, Scott B SB; Roberts, Anne M AM; Porter, Tenielle T; Fowler, Chris C; Masters, Colin L CL; Dratz, Edward A EA; Laws, Simon M SM
Publication Date: 2023

Variant appearance in text: PSEN1: V236E
PubMed Link: 36891255
Variant Present in the following documents:
  • Main text
  • adr-7-adr220075.pdf
View BVdb publication page



ApoE in Alzheimer's disease: pathophysiology and therapeutic strategies.

Molecular Neurodegeneration
Raulin, Ana-Caroline AC; Doss, Sydney V SV; Trottier, Zachary A ZA; Ikezu, Tadafumi C TC; Bu, Guojun G; Liu, Chia-Chen CC
Publication Date: 2022-11-08

Variant appearance in text: PSEN1: V236E
PubMed Link: 36348357
Variant Present in the following documents:
  • Main text
  • 13024_2022_Article_574.pdf
View BVdb publication page



APOE targeting strategy in Alzheimer's disease: lessons learned from protective variants.

Molecular Neurodegeneration
Bu, Guojun G
Publication Date: 2022-08-03

Variant appearance in text: PSEN1: V236E
PubMed Link: 35922805
Variant Present in the following documents:
  • Main text
  • 13024_2022_Article_556.pdf
View BVdb publication page



Imipramine and olanzapine block apoE4-catalyzed polymerization of Aβ and show evidence of improving Alzheimer's disease cognition.

Alzheimer'S Research & Therapy
Johnson, Noah R NR; Wang, Athena C-J AC; Coughlan, Christina C; Sillau, Stefan S; Lucero, Esteban E; Viltz, Lisa L; Markham, Neil N; Allen, Cody C; Dhanasekaran, A Ranjitha AR; Chial, Heidi J HJ; Potter, Huntington H
Publication Date: 2022-06-29

Variant appearance in text: PSEN1: V236E
PubMed Link: 35768831
Variant Present in the following documents:
  • 13195_2022_Article_1020.pdf
View BVdb publication page



Genetics of Alzheimer's disease: an East Asian perspective.

Journal Of Human Genetics
Miyashita, Akinori A; Kikuchi, Masataka M; Hara, Norikazu N; Ikeuchi, Takeshi T
Publication Date: 2022-06-01

Variant appearance in text: PSEN1: V236E
PubMed Link: 35641666
Variant Present in the following documents:
  • 10038_2022_Article_1050.pdf
View BVdb publication page



Alzheimer's disease - the journey of a healthy brain into organ failure.

Molecular Neurodegeneration
Golde, Todd E TE
Publication Date: 2022-03-05

Variant appearance in text: S182: V236E
PubMed Link: 35248124
Variant Present in the following documents:
  • 13024_2022_Article_523.pdf
View BVdb publication page



Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Molecular Neurodegeneration
Khani, Marzieh M; Gibbons, Elizabeth E; Bras, Jose J; Guerreiro, Rita R
Publication Date: 2022-01-09

Variant appearance in text: PSEN1: Val236Glu
PubMed Link: 35000612
Variant Present in the following documents:
  • Main text
  • 13024_2021_Article_505.pdf
View BVdb publication page



Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Molecular Neurodegeneration
Khani, Marzieh M; Gibbons, Elizabeth E; Bras, Jose J; Guerreiro, Rita R
Publication Date: 2022-01-09

Variant appearance in text: PSEN1: Val236Glu
PubMed Link: 35000612
Variant Present in the following documents:
  • Main text
  • 13024_2021_Article_505.pdf
View BVdb publication page



Genomics and Functional Genomics of Alzheimer's Disease.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics
Kamboh, M Ilyas MI
Publication Date: 2022-01

Variant appearance in text: PSEN1: V236E
PubMed Link: 34935119
Variant Present in the following documents:
  • 13311_2021_Article_1152.pdf
View BVdb publication page



APOE2: protective mechanism and therapeutic implications for Alzheimer's disease.

Molecular Neurodegeneration
Li, Zonghua Z; Shue, Francis F; Zhao, Na N; Shinohara, Mitsuru M; Bu, Guojun G
Publication Date: 2020-11-04

Variant appearance in text: PS1: V236E
PubMed Link: 33148290
Variant Present in the following documents:
  • Main text
  • 13024_2020_Article_413.pdf
View BVdb publication page



The Role of HDL and HDL Mimetic Peptides as Potential Therapeutics for Alzheimer's Disease.

Biomolecules
Chernick, Dustin D; Zhong, Rui R; Li, Ling L
Publication Date: 2020-09-04

Variant appearance in text: PSEN1: V236E
PubMed Link: 32899606
Variant Present in the following documents:
  • Main text
  • biomolecules-10-01276.pdf
View BVdb publication page



APOE-amyloid interaction: Therapeutic targets.

Neurobiology Of Disease
Wisniewski, Thomas T; Drummond, Eleanor E
Publication Date: 2020-05

Variant appearance in text: PS1: V236E
PubMed Link: 32027932
Variant Present in the following documents:
  • Main text
  • nihms-1562308.pdf
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: V236E
PubMed Link: 27940516
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of rare variants in Alzheimer's disease.

Frontiers In Genetics
Lord, Jenny J; Lu, Alexander J AJ; Cruchaga, Carlos C
Publication Date: 2014

Variant appearance in text: PSEN1: V236E
PubMed Link: 25389433
Variant Present in the following documents:
  • Main text
  • fgene-05-00369.pdf
View BVdb publication page