PSEN1 c.717G>C ;(p.K239N)

Variant ID: 14-73659520-G-C

NM_000021.3(PSEN1):c.717G>C;(p.K239N)

This variant was identified in 11 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: K239N
PubMed Link: 35928996
Variant Present in the following documents:
  • Main text
  • fnagi-14-903269.pdf
View BVdb publication page



Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.

Nature Medicine
Arboleda-Velasquez, Joseph F JF; Lopera, Francisco F; O'Hare, Michael M; Delgado-Tirado, Santiago S; Marino, Claudia C; Chmielewska, Natalia N; Saez-Torres, Kahira L KL; Amarnani, Dhanesh D; Schultz, Aaron P AP; Sperling, Reisa A RA; Leyton-Cifuentes, David D; Chen, Kewei K; Baena, Ana A; Aguillon, David D; Rios-Romenets, Silvia S; Giraldo, Margarita M; Guzmán-Vélez, Edmarie E; Norton, Daniel J DJ; Pardilla-Delgado, Enmanuelle E; Artola, Arabiye A; Sanchez, Justin S JS; Acosta-Uribe, Juliana J; Lalli, Matthew M; Kosik, Kenneth S KS; Huentelman, Matthew J MJ; Zetterberg, Henrik H; Blennow, Kaj K; Reiman, Rebecca A RA; Luo, Ji J; Chen, Yinghua Y; Thiyyagura, Pradeep P; Su, Yi Y; Jun, Gyungah R GR; Naymik, Marcus M; Gai, Xiaowu X; Bootwalla, Moiz M; Ji, Jianling J; Shen, Lishuang L; Miller, John B JB; Kim, Leo A LA; Tariot, Pierre N PN; Johnson, Keith A KA; Reiman, Eric M EM; Quiroz, Yakeel T YT
Publication Date: 2019-11

Variant appearance in text: PSEN1: K239N
PubMed Link: 31686034
Variant Present in the following documents:
  • nihms-1539807.pdf
View BVdb publication page



Role of Resveratrol and Selenium on Oxidative Stress and Expression of Antioxidant and Anti-Aging Genes in Immortalized Lymphocytes from Alzheimer's Disease Patients.

Nutrients
Cosín-Tomàs, Marta M; Senserrich, Júlia J; Arumí-Planas, Marta M; Alquézar, Carolina C; Pallàs, Mercè M; Martín-Requero, Ángeles Á; Suñol, Cristina C; Kaliman, Perla P; Sanfeliu, Coral C
Publication Date: 2019-07-31

Variant appearance in text: PSEN1: K239N
PubMed Link: 31370365
Variant Present in the following documents:
  • nutrients-11-01764.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: K239N
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



Reduced penetrance of the PSEN1 H163Y autosomal dominant Alzheimer mutation: a 22-year follow-up study.

Alzheimer'S Research & Therapy
Thordardottir, Steinunn S; Rodriguez-Vieitez, Elena E; Almkvist, Ove O; Ferreira, Daniel D; Saint-Aubert, Laure L; Kinhult-Ståhlbom, Anne A; Thonberg, Håkan H; Schöll, Michael M; Westman, Eric E; Wall, Anders A; Eriksdotter, Maria M; Zetterberg, Henrik H; Blennow, Kaj K; Nordberg, Agneta A; Graff, Caroline C
Publication Date: 2018-05-10

Variant appearance in text: PSEN1: K239N
PubMed Link: 29747683
Variant Present in the following documents:
  • Main text
  • 13195_2018_Article_374.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: K239N
PubMed Link: 28463681
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Sun, Linfeng L; Zhou, Rui R; Yang, Guanghui G; Shi, Yigong Y
Publication Date: 2017-01-24

Variant appearance in text: PS1: K239N
PubMed Link: 27930341
Variant Present in the following documents:
  • Main text
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: Lys239Asn
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: K239N
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: K239N
PubMed Link: 23224319
Variant Present in the following documents:
  • Main text
  • 401_2012_Article_1062.pdf
View BVdb publication page



Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

Plos One
Cruchaga, Carlos C; Haller, Gabe G; Chakraverty, Sumitra S; Mayo, Kevin K; Vallania, Francesco L M FL; Mitra, Robi D RD; Faber, Kelley K; Williamson, Jennifer J; Bird, Tom T; Diaz-Arrastia, Ramon R; Foroud, Tatiana M TM; Boeve, Bradley F BF; Graff-Radford, Neill R NR; St Jean, Pamela P; Lawson, Michael M; Ehm, Margaret G MG; Mayeux, Richard R; Goate, Alison M AM; ,
Publication Date: 2012

Variant appearance in text: PSEN1: K239N
PubMed Link: 22312439
Variant Present in the following documents:
  • pone.0031039.pdf
View BVdb publication page