PSEN1 c.347C>A ;(p.T116N)

Variant ID: 14-73640282-C-A

NM_000021.3(PSEN1):c.347C>A;(p.T116N)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: PSEN1: 347C>A; Thr116Asn
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: PSEN1: 347C>A; Thr116Asn
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
  • pcbi.1010013.s002.xlsx, sheet 2
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: T116N
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: T116N
PubMed Link: 34728605
Variant Present in the following documents:
  • Main text
  • 41398_2021_Article_1684.pdf
View BVdb publication page



Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

The American Journal Of Pathology
Kalaria, Rajesh N RN; Sepulveda-Falla, Diego D
Publication Date: 2021-11

Variant appearance in text: PSEN1: Thr116Asn
PubMed Link: 34331941
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)
Willumsen, Nanet N; Poole, Teresa T; Nicholas, Jennifer M JM; Fox, Nick C NC; Ryan, Natalie S NS; Lashley, Tammaryn T
Publication Date: 2022-05

Variant appearance in text: PSEN1: Thr116Asn
PubMed Link: 34319632
Variant Present in the following documents:
  • BPA-32-e13009.pdf
View BVdb publication page



Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)
Bagyinszky, Eva E; Lee, Hyon H; Pyun, Jung Min JM; Suh, Jeewon J; Kang, Min Ju MJ; Vo, Van Giau VG; An, Seong Soo A SSA; Park, Kee Hyung KH; Kim, SangYun S
Publication Date: 2020-06-14

Variant appearance in text: PSEN1: Thr116Asn
PubMed Link: 32545847
Variant Present in the following documents:
  • Main text
  • diagnostics-10-00405.pdf
View BVdb publication page



Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer's Disease With Early Presentation of Behavioral Disturbance.

Frontiers In Psychiatry
Zhang, Shouzi S; Li, Xiang X; Zhang, Li L; Meng, Xiangyan X; Ma, Li L; Zhang, Guangze G; Wu, Haiyan H; Liang, Ling L; Cao, Meng M; Mei, Fan F
Publication Date: 2020

Variant appearance in text: PSEN1: T116N
PubMed Link: 32477171
Variant Present in the following documents:
  • Main text
  • fpsyt-11-00347.pdf
View BVdb publication page



Therapeutic antibody targeting microtubule-binding domain prevents neuronal internalization of extracellular tau via masking neuron surface proteoglycans.

Acta Neuropathologica Communications
Weisová, Petronela P; Cehlár, Ondrej O; Škrabana, Rostislav R; Žilková, Monika M; Filipčík, Peter P; Kováčech, Branislav B; Prčina, Michal M; Wojčiaková, Ľubica Ľ; Fialová, Ľubica Ľ; Smolek, Tomáš T; Kontseková, Eva E; Žilka, Norbert N; Novák, Michal M
Publication Date: 2019-08-07

Variant appearance in text: PSEN1: Thr116Asn
PubMed Link: 31391090
Variant Present in the following documents:
  • Main text
  • 40478_2019_Article_770.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: T116N
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: Thr116Asn
PubMed Link: 30549411
Variant Present in the following documents:
  • BRB3-9-e01180.pdf
View BVdb publication page



Correlation of In Vivo [18F]Flortaucipir With Postmortem Alzheimer Disease Tau Pathology.

Jama Neurology
Smith, Ruben R; Wibom, Moa M; Pawlik, Daria D; Englund, Elisabet E; Hansson, Oskar O
Publication Date: 2019-03-01

Variant appearance in text: PSEN1: Thr116Asn
PubMed Link: 30508025
Variant Present in the following documents:
  • Main text
View BVdb publication page



PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.

International Journal Of Molecular Sciences
Bagyinszky, Eva E; Lee, Hye-Mi HM; Van Giau, Vo V; Koh, Seong-Beom SB; Jeong, Jee Hyang JH; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2018-09-02

Variant appearance in text: PSEN1: Thr116Asn
PubMed Link: 30200536
Variant Present in the following documents:
  • Main text
View BVdb publication page



Introduction of pathogenic mutations into the mouse Psen1 gene by Base Editor and Target-AID.

Nature Communications
Sasaguri, Hiroki H; Nagata, Kenichi K; Sekiguchi, Misaki M; Fujioka, Ryo R; Matsuba, Yukio Y; Hashimoto, Shoko S; Sato, Kaori K; Kurup, Deepika D; Yokota, Takanori T; Saido, Takaomi C TC
Publication Date: 2018-07-24

Variant appearance in text: PS1: T116N
PubMed Link: 30042426
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_5262.pdf
  • 41467_2018_5262_MOESM1_ESM.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: Thr116Asn
PubMed Link: 27799753
Variant Present in the following documents:
  • Main text
  • cia-11-1467.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: Thr116Asn
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.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: T116N
PubMed Link: 22354516
Variant Present in the following documents:
  • Main text
  • emmm0004-0344.pdf
  • emmm0004-0344-SD1.pdf
View BVdb publication page



Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds.

The Journal Of Biological Chemistry
Kretner, Benedikt B; Fukumori, Akio A; Gutsmiedl, Amelie A; Page, Richard M RM; Luebbers, Thomas T; Galley, Guido G; Baumann, Karlheinz K; Haass, Christian C; Steiner, Harald H
Publication Date: 2011-04-29

Variant appearance in text: PS1: T116N
PubMed Link: 21357415
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.

Neurobiology Of Aging
Guerreiro, Rita Joao RJ; Baquero, Miquel M; Blesa, Rafael R; Boada, Mercè M; Brás, Jose Miguel JM; Bullido, Maria J MJ; Calado, Ana A; Crook, Richard R; Ferreira, Carla C; Frank, Ana A; Gómez-Isla, Teresa T; Hernández, Isabel I; Lleó, Alberto A; Machado, Alvaro A; Martínez-Lage, Pablo P; Masdeu, José J; Molina-Porcel, Laura L; Molinuevo, José L JL; Pastor, Pau P; Pérez-Tur, Jordi J; Relvas, Rute R; Oliveira, Catarina Resende CR; Ribeiro, Maria Helena MH; Rogaeva, Ekaterina E; Sa, Alfredo A; Samaranch, Lluís L; Sánchez-Valle, Raquel R; Santana, Isabel I; Tàrraga, Lluís L; Valdivieso, Fernando F; Singleton, Andrew A; Hardy, John J; Clarimón, Jordi J
Publication Date: 2010-05

Variant appearance in text: PSEN1: T116N
PubMed Link: 18667258
Variant Present in the following documents:
  • Main text
View BVdb publication page