PSEN1 c.1164C>G ;(p.F388L)

Variant ID: 14-73683868-C-G

NM_000021.3(PSEN1):c.1164C>G;(p.F388L)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.

Brain Communications
Ringman, John M JM; Dorrani, Naghmeh N; Fernández, Sara Gutiérrez SG; Signer, Rebecca R; Martinez-Agosto, Julian J; Lee, Hane H; Douine, Emilie D ED; Qiao, Yuchuan Y; Shi, Yonggang Y; D'Orazio, Lina L; Pawar, Sanjay S; Robbie, Leah L; Kashani, Amir H AH; Singer, Maxwell M; Byers, Joshua T JT; Magaki, Shino S; Guzman, Sam S; Sagare, Abhay A; Zlokovic, Berislav B; Cederbaum, Stephen S; Nelson, Stanley S; Sheikh-Bahaei, Nasim N; Chui, Helena C HC; Chávez-Gutiérrez, Lucía L; Vinters, Harry V HV
Publication Date: 2023

Variant appearance in text: PSEN1: F388L
PubMed Link: 36895955
Variant Present in the following documents:
  • Main text
  • fcad030.pdf
View BVdb publication page



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: F388L
PubMed Link: 36142879
Variant Present in the following documents:
  • ijms-23-10970.pdf
View BVdb publication page



Stem cell therapy for Alzheimer's disease.

World Journal Of Stem Cells
Liu, Xin-Yu XY; Yang, Lin-Po LP; Zhao, Lan L
Publication Date: 2020-08-26

Variant appearance in text: PSEN1: F388L
PubMed Link: 32952859
Variant Present in the following documents:
  • WJSC-12-787.pdf
View BVdb publication page



Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Molecular Genetics & Genomic Medicine
Qin, Qi Q; Yin, Yunsi Y; Wang, Yan Y; Lu, Yuanyuan Y; Tang, Yi Y; Jia, Jianping J
Publication Date: 2020-10

Variant appearance in text: PSEN1: 1164C>G
PubMed Link: 32767553
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1443.pdf
View BVdb publication page



Current status and future prospects of stem cell therapy in Alzheimer's disease.

Neural Regeneration Research
Zhang, Fu-Qiang FQ; Jiang, Jin-Lan JL; Zhang, Jing-Tian JT; Niu, Han H; Fu, Xue-Qi XQ; Zeng, Lin-Lin LL
Publication Date: 2020-02

Variant appearance in text: PSEN1: F388L
PubMed Link: 31552889
Variant Present in the following documents:
  • NRR-15-242.pdf
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: F388L
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



Gene mutations in a Han Chinese Alzheimer's disease cohort.

Brain And Behavior
Ma, Limin L; Zhang, Jiewen J; Shi, Yingying Y; Wang, Wan W; Ren, Zhixia Z; Xia, Mingrong M; Zhang, Yuanxing Y; Yang, Miaomiao M
Publication Date: 2019-01

Variant appearance in text: PSEN1: F388L
PubMed Link: 30549411
Variant Present in the following documents:
  • BRB3-9-e01180.pdf
View BVdb publication page