PSEN1 c.671C>T ;(p.A224V)

Variant ID: 14-73659474-C-T

NM_000021.3(PSEN1):c.671C>T;(p.A224V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Phosphorylated Tau 181 Serum Levels Predict Alzheimer's Disease in the Preclinical Stage.

Frontiers In Aging Neuroscience
Qin, Wei W; Li, Fangyu F; Jia, Longfei L; Wang, Qi Q; Li, Ying Y; Wei, Yiping Y; Li, Yan Y; Jin, Hongmei H; Jia, Jianping J
Publication Date: 2022

Variant appearance in text: PSEN1: Ala224Val
PubMed Link: 35769604
Variant Present in the following documents:
  • fnagi-14-900773.pdf
View BVdb publication page



Impairment of the autophagy-lysosomal pathway in Alzheimer's diseases: Pathogenic mechanisms and therapeutic potential.

Acta Pharmaceutica Sinica. B
Zhang, Wei W; Xu, Chengchao C; Sun, Jichao J; Shen, Han-Ming HM; Wang, Jigang J; Yang, Chuanbin C
Publication Date: 2022-03

Variant appearance in text: PS1: Ala224Val
PubMed Link: 35530153
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Autophagy and Alzheimer's Disease: From Molecular Mechanisms to Therapeutic Implications.

Frontiers In Aging Neuroscience
Uddin, Md Sahab MS; Stachowiak, Anna A; Mamun, Abdullah Al AA; Tzvetkov, Nikolay T NT; Takeda, Shinya S; Atanasov, Atanas G AG; Bergantin, Leandro B LB; Abdel-Daim, Mohamed M MM; Stankiewicz, Adrian M AM
Publication Date: 2018

Variant appearance in text: PS1: Ala224Val
PubMed Link: 29441009
Variant Present in the following documents:
  • fnagi-10-00004.pdf
View BVdb publication page



Neuronal Gene Targets of NF-κB and Their Dysregulation in Alzheimer's Disease.

Frontiers In Molecular Neuroscience
Snow, Wanda M WM; Albensi, Benedict C BC
Publication Date: 2016

Variant appearance in text: PS1: Ala224Val
PubMed Link: 27881951
Variant Present in the following documents:
  • fnmol-09-00118.pdf
View BVdb publication page



Assessment of Alzheimer's disease case-control associations using family-based methods.

Neurogenetics
Schjeide, Brit-Maren M BM; McQueen, Matthew B MB; Mullin, Kristina K; DiVito, Jason J; Hogan, Meghan F MF; Parkinson, Michele M; Hooli, Basavaraj B; Lange, Christoph C; Blacker, Deborah D; Tanzi, Rudolph E RE; Bertram, Lars L
Publication Date: 2009-02

Variant appearance in text: PSEN1: A224V
PubMed Link: 18830724
Variant Present in the following documents:
  • Main text
View BVdb publication page