PSEN1 c.617G>A ;(p.G206D)

Variant ID: 14-73659420-G-A

NM_000021.3(PSEN1):c.617G>A;(p.G206D)

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: 617G>A; Gly206Asp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: Gly206Asp
PubMed Link: 36142879
Variant Present in the following documents:
  • Main text
  • ijms-23-10970.pdf
View BVdb publication page



Autophagy Modulation in Aggresome Formation: Emerging Implications and Treatments of Alzheimer's Disease.

Biomedicines
Rahman, Md Ataur MA; Rahman, M D Hasanur MDH; Mamun-Or-Rashid, A N M ANM; Hwang, Hongik H; Chung, Sooyoung S; Kim, Bonglee B; Rhim, Hyewhon H
Publication Date: 2022-04-29

Variant appearance in text: PSEN1: G206D
PubMed Link: 35625764
Variant Present in the following documents:
  • Main text
  • biomedicines-10-01027.pdf
View BVdb publication page



Application of CRISPR/Cas9 in Alzheimer's Disease.

Frontiers In Neuroscience
Lu, Likui L; Yu, Xi X; Cai, Yongle Y; Sun, Miao M; Yang, Hao H
Publication Date: 2021

Variant appearance in text: PSEN1: G206D
PubMed Link: 34992519
Variant Present in the following documents:
  • fnins-15-803894.pdf
View BVdb publication page



The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Npj Genomic Medicine
Jiao, Bin B; Liu, Hui H; Guo, Lina L; Xiao, Xuewen X; Liao, Xinxin X; Zhou, Yafang Y; Weng, Ling L; Zhou, Lu L; Wang, Xin X; Jiang, Yaling Y; Yang, Qijie Q; Zhu, Yuan Y; Zhou, Lin L; Zhang, Weiwei W; Wang, Junling J; Yan, Xinxiang X; Li, Jinchen J; Tang, Beisha B; Shen, Lu L
Publication Date: 2021-08-13

Variant appearance in text: PSEN1: 617G>A; G206D
PubMed Link: 34389718
Variant Present in the following documents:
  • Main text
View BVdb publication page



APP, PSEN1, and PSEN2 Variants in Alzheimer's Disease: Systematic Re-evaluation According to ACMG Guidelines.

Frontiers In Aging Neuroscience
Xiao, Xuewen X; Liu, Hui H; Liu, Xixi X; Zhang, Weiwei W; Zhang, Sizhe S; Jiao, Bin B
Publication Date: 2021

Variant appearance in text: PSEN1: G206D
PubMed Link: 34220489
Variant Present in the following documents:
  • fnagi-13-695808.pdf
View BVdb publication page



Mitochondrial Dysfunction in Alzheimer's Disease: Opportunities for Drug Development.

Current Neuropharmacology
Bhatia, Shiveena S; Rawal, Rishi R; Sharma, Pratibha P; Singh, Tanveer T; Singh, Manjinder M; Singh, Varinder V
Publication Date: 2022

Variant appearance in text: PS1: G206D
PubMed Link: 33998995
Variant Present in the following documents:
  • CN-20-675.pdf
View BVdb publication page



Mutational analysis in familial Alzheimer's disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile.

Scientific Reports
Lin, Yung-Shuan YS; Cheng, Chih-Ya CY; Liao, Yi-Chu YC; Hong, Chen-Jee CJ; Fuh, Jong-Ling JL
Publication Date: 2020-11-13

Variant appearance in text: PSEN1: Gly206Asp
PubMed Link: 33188256
Variant Present in the following documents:
  • Main text
  • 41598_2020_76794_MOESM2_ESM.pdf
  • 41598_2020_Article_76794.pdf
View BVdb publication page



Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations.

Neurobiology Of Disease
Pimenova, Anna A AA; Goate, Alison M AM
Publication Date: 2020-05

Variant appearance in text: PSEN1: Gly206Asp
PubMed Link: 32032730
Variant Present in the following documents:
  • Main text
View BVdb publication page



Two Novel Mutations and a de novo Mutation in PSEN1 in Early-onset Alzheimer's Disease.

Aging And Disease
Li, Yu-Sheng YS; Yang, Zhi-Hua ZH; Zhang, Yao Y; Yang, Jing J; Shang, Dan-Dan DD; Zhang, Shu-Yu SY; Wu, Jun J; Ji, Yan Y; Zhao, Lu L; Shi, Chang-He CH; Xu, Yu-Ming YM
Publication Date: 2019-08

Variant appearance in text: PSEN1: G206D
PubMed Link: 31440394
Variant Present in the following documents:
  • Main text
  • ad-10-4-908.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: G206D
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: G206D
PubMed Link: 30914681
Variant Present in the following documents:
  • Main text
  • 41598_2019_41443_MOESM2_ESM.pdf
  • 41598_2019_Article_41443.pdf
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: G206D
PubMed Link: 30390718
Variant Present in the following documents:
  • Main text
  • 13195_2018_Article_439.pdf
View BVdb publication page



Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

Neurobiology Of Aging
Wang, Jen-Chyong JC; Alinaghi, Somayeh S; Tafakhori, Abbas A; Sikora, Elizabeth E; Azcona, Luis J LJ; Karkheiran, Siamak S; Goate, Alison A; Paisán-Ruiz, Coro C; Darvish, Hossein H
Publication Date: 2018-02

Variant appearance in text: PSEN1: 617G>A; Gly206Asp
PubMed Link: 29175279
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Genome Research
Keogh, Michael J MJ; Wei, Wei W; Wilson, Ian I; Coxhead, Jon J; Ryan, Sarah S; Rollinson, Sara S; Griffin, Helen H; Kurzawa-Akanbi, Marzena M; Santibanez-Koref, Mauro M; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Ironside, James W JW; Chinnery, Patrick F PF
Publication Date: 2017-01

Variant appearance in text: PSEN1: 617G>A; G206D
PubMed Link: 28003435
Variant Present in the following documents:
  • supp_gr.210609.116_Supplemental_Clinical_data.xlsx, sheet 2
  • supp_gr.210609.116_Supplemental_Variant_data.xlsx, sheet 2
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: Gly206Asp
PubMed Link: 27799753
Variant Present in the following documents:
  • Main text
  • cia-11-1467.pdf
View BVdb publication page



Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Tominaga, Aya A; Cai, Tetsuo T; Takagi-Niidome, Shizuka S; Iwatsubo, Takeshi T; Tomita, Taisuke T
Publication Date: 2016-01-27

Variant appearance in text: PS1: G206D
PubMed Link: 26818522
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: Gly206Asp
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page