PSEN1 c.359A>G ;(p.E120G)

Variant ID: 14-73640294-A-G

NM_000021.3(PSEN1):c.359A>G;(p.E120G)

This variant was identified in 12 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: Glu120Gly
PubMed Link: 36142879
Variant Present in the following documents:
  • Main text
  • ijms-23-10970.pdf
View BVdb publication page



Patient-Derived Fibroblasts With Presenilin-1 Mutations, That Model Aspects of Alzheimer's Disease Pathology, Constitute a Potential Object for Early Diagnosis.

Frontiers In Aging Neuroscience
Lopez-Toledo, Gustavo G; Silva-Lucero, Maria-Del-Carmen MD; Herrera-Díaz, Jorge J; García, David-Erasmo DE; Arias-Montaño, José-Antonio JA; Cardenas-Aguayo, Maria-Del-Carmen MD
Publication Date: 2022

Variant appearance in text: PS1: E120G
PubMed Link: 35847683
Variant Present in the following documents:
  • Main text
  • fnagi-14-921573.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: Glu120Gly
PubMed Link: 34331941
Variant Present in the following documents:
  • Main text
View BVdb publication page



Microglial Hyperreactivity Evolved to Immunosuppression in the Hippocampus of a Mouse Model of Accelerated Aging and Alzheimer's Disease Traits.

Frontiers In Aging Neuroscience
Molina-Martínez, Patricia P; Corpas, Rubén R; García-Lara, Elisa E; Cosín-Tomás, Marta M; Cristòfol, Rosa R; Kaliman, Perla P; Solà, Carme C; Molinuevo, José Luis JL; Sánchez-Valle, Raquel R; Antonell, Anna A; Lladó, Albert A; Sanfeliu, Coral C
Publication Date: 2020

Variant appearance in text: PSEN1: E120G
PubMed Link: 33584248
Variant Present in the following documents:
  • Main text
  • fnagi-12-622360.pdf
View BVdb publication page



Dedifferentiation and neuronal repression define familial Alzheimer's disease.

Science Advances
Caldwell, Andrew B AB; Liu, Qing Q; Schroth, Gary P GP; Galasko, Douglas R DR; Yuan, Shauna H SH; Wagner, Steven L SL; Subramaniam, Shankar S
Publication Date: 2020-11

Variant appearance in text: PSEN1: E120G
PubMed Link: 33188013
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dedifferentiation and neuronal repression define familial Alzheimer's disease.

Science Advances
Caldwell, Andrew B AB; Liu, Qing Q; Schroth, Gary P GP; Galasko, Douglas R DR; Yuan, Shauna H SH; Wagner, Steven L SL; Subramaniam, Shankar S
Publication Date: 2020-11

Variant appearance in text: PSEN1: E120G
PubMed Link: 33188013
Variant Present in the following documents:
  • Main text
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: E120G
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



Nanoscale structure of amyloid-β plaques in Alzheimer's disease.

Scientific Reports
Querol-Vilaseca, Marta M; Colom-Cadena, Martí M; Pegueroles, Jordi J; Nuñez-Llaves, Raúl R; Luque-Cabecerans, Joan J; Muñoz-Llahuna, Laia L; Andilla, Jordi J; Belbin, Olivia O; Spires-Jones, Tara L TL; Gelpi, Ellen E; Clarimon, Jordi J; Loza-Alvarez, Pablo P; Fortea, Juan J; Lleó, Alberto A
Publication Date: 2019-03-26

Variant appearance in text: PSEN1: E120G
PubMed Link: 30914681
Variant Present in the following documents:
  • 41598_2019_41443_MOESM2_ESM.pdf
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: Glu120Gly
PubMed Link: 30200536
Variant Present in the following documents:
  • Main text
  • ijms-19-02604.pdf
View BVdb publication page



Qualitative changes in human γ-secretase underlie familial Alzheimer's disease.

The Journal Of Experimental Medicine
Szaruga, Maria M; Veugelen, Sarah S; Benurwar, Manasi M; Lismont, Sam S; Sepulveda-Falla, Diego D; Lleo, Alberto A; Ryan, Natalie S NS; Lashley, Tammaryn T; Fox, Nick C NC; Murayama, Shigeo S; Gijsen, Harrie H; De Strooper, Bart B; Chávez-Gutiérrez, Lucía L
Publication Date: 2015-11-16

Variant appearance in text: PSEN1: E120G
PubMed Link: 26481686
Variant Present in the following documents:
  • Main text
  • JEM_20150892.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: Glu120Gly
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page



Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

Biomed Research International
Pilotto, Andrea A; Padovani, Alessandro A; Borroni, Barbara B
Publication Date: 2013

Variant appearance in text: PSEN1: E120G
PubMed Link: 24377094
Variant Present in the following documents:
  • Main text
  • BMRI2013-689591.pdf
View BVdb publication page



Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease.

Acta Neuropathologica
Pera, Marta M; Alcolea, Daniel D; Sánchez-Valle, Raquel R; Guardia-Laguarta, Cristina C; Colom-Cadena, Martí M; Badiola, Nahuai N; Suárez-Calvet, Marc M; Lladó, Albert A; Barrera-Ocampo, Alvaro A AA; Sepulveda-Falla, Diego D; Blesa, Rafael R; Molinuevo, José L JL; Clarimón, Jordi J; Ferrer, Isidre I; Gelpi, Ellen E; Lleó, Alberto A
Publication Date: 2013-02

Variant appearance in text: PSEN1: E120G
PubMed Link: 23224319
Variant Present in the following documents:
  • Main text
  • 401_2012_Article_1062.pdf
View BVdb publication page