PSEN1 c.415A>C ;(p.M139L)

Variant ID: 14-73640350-A-C

NM_000021.3(PSEN1):c.415A>C;(p.M139L)

This variant was identified in 6 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: Met139Leu
PubMed Link: 36142879
Variant Present in the following documents:
  • Main text
  • ijms-23-10970.pdf
View BVdb publication page



Neural Networks in Autosomal Dominant Alzheimer's Disease: Insights From Functional Magnetic Resonance Imaging Studies.

Frontiers In Aging Neuroscience
Qiu, Qiongqiong Q
Publication Date: 2022

Variant appearance in text: PSEN1: M139L
PubMed Link: 35928996
Variant Present in the following documents:
  • Main text
  • fnagi-14-903269.pdf
View BVdb publication page



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: M139L
PubMed Link: 35769604
Variant Present in the following documents:
  • Main text
  • Data_Sheet_1.pdf
  • fnagi-14-900773.pdf
View BVdb publication page



Microtube Array Membrane Encapsulated Cell Therapy: A Novel Platform Technology Solution for Treatment of Alzheimer's Disease.

International Journal Of Molecular Sciences
Chen, Shu-Mei SM; Hsu, Tsung-Chin TC; Chew, Chee-Ho CH; Huang, Wan-Ting WT; Chen, Amanda Lin AL; Lin, Yung-Feng YF; Eddarkaoui, Sabiha S; Buee, Luc L; Chen, Chien-Chung CC
Publication Date: 2022-06-20

Variant appearance in text: PSEN1: M139L
PubMed Link: 35743295
Variant Present in the following documents:
  • ijms-23-06855.pdf
View BVdb publication page



The Genetics of Alzheimer's Disease in the Chinese Population.

International Journal Of Molecular Sciences
Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH
Publication Date: 2020-03-30

Variant appearance in text: PSEN1: M139L
PubMed Link: 32235595
Variant Present in the following documents:
  • Main text
  • ijms-21-02381.pdf
View BVdb publication page



Effects of gene mutation and disease progression on representative neural circuits in familial Alzheimer's disease.

Alzheimer'S Research & Therapy
Quan, Meina M; Zhao, Tan T; Tang, Yi Y; Luo, Ping P; Wang, Wei W; Qin, Qi Q; Li, Tingting T; Wang, Qigeng Q; Fang, Jiliang J; Jia, Jianping J
Publication Date: 2020-01-14

Variant appearance in text: PS1: M139L
PubMed Link: 31937364
Variant Present in the following documents:
  • Main text
  • 13195_2019_Article_572.pdf
View BVdb publication page