PSEN1 c.1316T>G ;(p.I439S)

Variant ID: 14-73685909-T-G

NM_000021.3(PSEN1):c.1316T>G;(p.I439S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: I439S
PubMed Link: 35928996
Variant Present in the following documents:
  • Main text
  • fnagi-14-903269.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: I439S
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: I439S
PubMed Link: 30390718
Variant Present in the following documents:
  • Main text
  • 13195_2018_Article_439.pdf
View BVdb publication page



Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Carmona-Iragui, María M; Balasa, Mircea M; Benejam, Bessy B; Alcolea, Daniel D; Fernández, Susana S; Videla, Laura L; Sala, Isabel I; Sánchez-Saudinós, María Belén MB; Morenas-Rodriguez, Estrella E; Ribosa-Nogué, Roser R; Illán-Gala, Ignacio I; Gonzalez-Ortiz, Sofía S; Clarimón, Jordi J; Schmitt, Frederick F; Powell, David K DK; Bosch, Beatriz B; Lladó, Albert A; Rafii, Michael S MS; Head, Elizabeth E; Molinuevo, José Luis JL; Blesa, Rafael R; Videla, Sebastián S; Lleó, Alberto A; Sánchez-Valle, Raquel R; Fortea, Juan J
Publication Date: 2017-11

Variant appearance in text: PSEN1: I439S
PubMed Link: 28463681
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: I439S
PubMed Link: 27686161
Variant Present in the following documents:
  • Main text
  • 13024_2016_Article_131.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: Ile439Ser
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page