PSEN1 c.519G>C ;(p.L173F)

Variant ID: 14-73653599-G-C

NM_000021.3(PSEN1):c.519G>C;(p.L173F)

This variant was identified in 17 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: Leu173Phe
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: L173F
PubMed Link: 35928996
Variant Present in the following documents:
  • Main text
  • fnagi-14-903269.pdf
View BVdb publication page



Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.

Translational Psychiatry
Kakuda, Nobuto N; Takami, Mako M; Okochi, Masayasu M; Kasuga, Kensaku K; Ihara, Yasuo Y; Ikeuchi, Takeshi T
Publication Date: 2021-11-03

Variant appearance in text: PS1: L173F
PubMed Link: 34728605
Variant Present in the following documents:
  • Main text
  • 41398_2021_Article_1684.pdf
View BVdb publication page



Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.

Translational Psychiatry
Kakuda, Nobuto N; Takami, Mako M; Okochi, Masayasu M; Kasuga, Kensaku K; Ihara, Yasuo Y; Ikeuchi, Takeshi T
Publication Date: 2021-11-03

Variant appearance in text: PS1: L173F
PubMed Link: 34728605
Variant Present in the following documents:
  • Main text
  • 41398_2021_Article_1684.pdf
View BVdb publication page



Prominent Striatum Amyloid Retention in Early-Onset Familial Alzheimer's Disease With PSEN1 Mutations: A Pilot PET/MR Study.

Frontiers In Aging Neuroscience
Qin, Qi Q; Fu, Liping L; Wang, Ruimin R; Lyu, Jihui J; Ma, Huixuan H; Zhan, Minmin M; Zhou, Aihong A; Wang, Fen F; Zuo, Xiumei X; Wei, Cuibai C
Publication Date: 2021

Variant appearance in text: PSEN1: L173F
PubMed Link: 34603009
Variant Present in the following documents:
  • Main text
  • fnagi-13-732159.pdf
View BVdb publication page



A New Presenilin 1 (Psen1) Mutation (p.Cys263Trp) as a Cause of Both Early and Late-Onset Alzheimer's Disease in a Large Italian Family.

International Journal Of Molecular Sciences
Tortelli, Rosanna R; Seripa, Davide D; Zecca, Chiara C; Dell'Abate, Maria Teresa MT; Bisceglia, Paola P; Barulli, Maria Rosaria MR; De Blasi, Roberto R; Logroscino, Giancarlo G
Publication Date: 2021-06-09

Variant appearance in text: PSEN1: Leu173Phe
PubMed Link: 34207526
Variant Present in the following documents:
  • Main text
  • ijms-22-06215.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: L173F
PubMed Link: 31937364
Variant Present in the following documents:
  • Main text
  • 13195_2019_Article_572.pdf
View BVdb publication page



APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences
Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2019-09-25

Variant appearance in text: PSEN1: Leu173Phe
PubMed Link: 31557888
Variant Present in the following documents:
  • Main text
  • ijms-20-04757.pdf
View BVdb publication page



A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.

Bmc Neurology
Van Giau, Vo V; Pyun, Jung-Min JM; Suh, Jeewon J; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, Sang Yun SY
Publication Date: 2019-08-07

Variant appearance in text: PSEN1: L173F
PubMed Link: 31391004
Variant Present in the following documents:
  • Main text
  • 12883_2019_Article_1419.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: L173F
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



Serum neurofilament light levels correlate with severity measures and neurodegeneration markers in autosomal dominant Alzheimer's disease.

Alzheimer'S Research & Therapy
Sánchez-Valle, Raquel R; Heslegrave, Amanda A; Foiani, Martha S MS; Bosch, Beatriz B; Antonell, Anna A; Balasa, Mircea M; Lladó, Albert A; Zetterberg, Henrik H; Fox, Nick C NC
Publication Date: 2018-11-03

Variant appearance in text: PSEN1: L173F
PubMed Link: 30390718
Variant Present in the following documents:
  • Main text
  • 13195_2018_Article_439.pdf
View BVdb publication page



C-terminal fragments of the amyloid precursor protein in cerebrospinal fluid as potential biomarkers for Alzheimer disease.

Scientific Reports
García-Ayllón, María-Salud MS; Lopez-Font, Inmaculada I; Boix, Claudia P CP; Fortea, Juan J; Sánchez-Valle, Raquel R; Lleó, Alberto A; Molinuevo, José-Luis JL; Zetterberg, Henrik H; Blennow, Kaj K; Sáez-Valero, Javier J
Publication Date: 2017-05-30

Variant appearance in text: PSEN1: L173F
PubMed Link: 28559572
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_2841.pdf
View BVdb publication page



Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Clinical Interventions In Aging
Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S
Publication Date: 2016

Variant appearance in text: PSEN1: Leu173Phe
PubMed Link: 27799753
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cerebrospinal fluid Presenilin-1 increases at asymptomatic stage in genetically determined Alzheimer's disease.

Molecular Neurodegeneration
Sogorb-Esteve, Aitana A; García-Ayllón, María-Salud MS; Fortea, Juan J; Sánchez-Valle, Raquel R; Lleó, Alberto A; Molinuevo, José-Luis JL; Sáez-Valero, Javier J
Publication Date: 2016-09-29

Variant appearance in text: PSEN1: L173F
PubMed Link: 27686161
Variant Present in the following documents:
  • Main text
  • 13024_2016_Article_131.pdf
View BVdb publication page



Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.

Journal Of Human Genetics
Kasuga, Kensaku K; Kikuchi, Masataka M; Tokutake, Takayoshi T; Nakaya, Akihiro A; Tezuka, Toshiyuki T; Tsukie, Tamao T; Hara, Norikazu N; Miyashita, Akinori A; Kuwano, Ryozo R; Ikeuchi, Takeshi T
Publication Date: 2015-05

Variant appearance in text: PSEN1: 519G>C; Leu173Phe
PubMed Link: 25694106
Variant Present in the following documents:
  • jhg201515x1.pdf
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: Leu173Phe
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page



Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.

Alzheimer'S Research & Therapy
Jin, Sheng Chih SC; Pastor, Pau P; Cooper, Breanna B; Cervantes, Sebastian S; Benitez, Bruno A BA; Razquin, Cristina C; Goate, Alison A; , ; Cruchaga, Carlos C
Publication Date: 2012-08-20

Variant appearance in text: PSEN1: L173F
PubMed Link: 22906081
Variant Present in the following documents:
  • Main text
  • alzrt137.pdf
View BVdb publication page



Altered γ-secretase activity in mild cognitive impairment and Alzheimer's disease.

Embo Molecular Medicine
Kakuda, Nobuto N; Shoji, Mikio M; Arai, Hiroyuki H; Furukawa, Katsutoshi K; Ikeuchi, Takeshi T; Akazawa, Kohei K; Takami, Mako M; Hatsuta, Hiroyuki H; Murayama, Shigeo S; Hashimoto, Yasuhiro Y; Miyajima, Masakazu M; Arai, Hajime H; Nagashima, Yu Y; Yamaguchi, Haruyasu H; Kuwano, Ryozo R; Nagaike, Kazuhiro K; Ihara, Yasuo Y; ,
Publication Date: 2012-04

Variant appearance in text: PS1: L173F
PubMed Link: 22354516
Variant Present in the following documents:
  • Main text
  • emmm0004-0344.pdf
  • emmm0004-0344-SD1.pdf
View BVdb publication page