Publications:

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Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

International Journal Of Molecular Sciences

Yang, Youngsoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2023-05-08

Variant appearance in text: PSEN1: Leu113Pro

PubMed Link: 37176125

Variant Present in the following documents:

• Main text
• ijms-24-08417.pdf

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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: 338T>C; Leu113Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: Leu113Pro

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.

Molecular Psychiatry

Petit, Dieter D; Fernández, Sara Gutiérrez SG; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Ryan, Natalie S NS; O'Connor, Antoinette A; Szaruga, Maria M; Hill, Elizabeth E; Vandenberghe, Rik R; Fox, Nick C NC; Chávez-Gutiérrez, Lucía L

Publication Date: 2022-06

Variant appearance in text: PSEN1: L113P

PubMed Link: 35365805

Variant Present in the following documents:

• Main text
• 41380_2022_Article_1518.pdf

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SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.

Genes

Ruffo, Paola P; Perrone, Benedetta B; Conforti, Francesca Luisa FL

Publication Date: 2022-03-18

Variant appearance in text: PS1: 338T>C

PubMed Link: 35328090

Variant Present in the following documents:

• genes-13-00537.pdf

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Research Criteria for the Behavioral Variant of Alzheimer Disease: A Systematic Review and Meta-analysis.

Jama Neurology

Ossenkoppele, Rik R; Singleton, Ellen H EH; Groot, Colin C; Dijkstra, Anke A AA; Eikelboom, Willem S WS; Seeley, William W WW; Miller, Bruce B; Laforce, Robert Jr RJ; Scheltens, Philip P; Papma, Janne M JM; Rabinovici, Gil D GD; Pijnenburg, Yolande A L YAL

Publication Date: 2022-01-01

Variant appearance in text: PSEN1: L113P

PubMed Link: 34870696

Variant Present in the following documents:

• Main text
• jamaneurol-e214417-s001.pdf

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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: L113P

PubMed Link: 34389718

Variant Present in the following documents:

• 41525_2021_Article_235.pdf

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Hydrophilic loop 1 of Presenilin-1 and the APP GxxxG transmembrane motif regulate γ-secretase function in generating Alzheimer-causing Aβ peptides.

The Journal Of Biological Chemistry

Liu, Lei L; Lauro, Bianca M BM; Wolfe, Michael S MS; Selkoe, Dennis J DJ

Publication Date: 2021

Variant appearance in text: PS1: L113P

PubMed Link: 33571524

Variant Present in the following documents:

• Main text
• main.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: PSEN1: 338T>C; Leu113Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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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: L113P

PubMed Link: 32477171

Variant Present in the following documents:

• Main text
• fpsyt-11-00347.pdf

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Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)

Senanarong, Vorapun V; An, Seong Soo A SSA; Vo Van, Giau G; Limwongse, Chanin C; Bagyinszky, Eva E; Kim, SangYun S

Publication Date: 2020-03-01

Variant appearance in text: PSEN1: Leu113Pro

PubMed Link: 32121568

Variant Present in the following documents:

• Main text
• diagnostics-10-00135.pdf

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Potential Therapeutic Approaches to Alzheimer's Disease By Bioinformatics, Cheminformatics And Predicted Adme-Tox Tools.

Current Neuropharmacology

Avram, Speranta S; Mernea, Maria M; Limban, Carmen C; Borcan, Florin F; Chifiriuc, Carmen C

Publication Date: 2020

Variant appearance in text: PS1: L113P

PubMed Link: 31885353

Variant Present in the following documents:

• CN-18-696.pdf

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Bax inhibitor 1 is a γ-secretase-independent presenilin-binding protein.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wu, Shenjie S; Song, Wenqi W; Wong, Catherine C L CCL; Shi, Yigong Y

Publication Date: 2019-01-02

Variant appearance in text: PS1: L113P

PubMed Link: 30559186

Variant Present in the following documents:

• pnas.201810870.pdf

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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: Leu113Pro

PubMed Link: 30200536

Variant Present in the following documents:

• Main text
• ijms-19-02604.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: PSEN1: 338T>C; Leu113Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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PSEN1 L226F mutation in a patient with early-onset Alzheimer's disease in Korea.

Clinical Interventions In Aging

Bagyinszky, Eva E; Park, Sun Ah SA; Kim, Hyung Jun HJ; Choi, Seong Hye SH; An, Seong Soo A SS; Kim, Sang Yun SY

Publication Date: 2016

Variant appearance in text: PSEN1: L113P

PubMed Link: 27785004

Variant Present in the following documents:

• Main text
• cia-11-1433.pdf

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Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.

Frontiers In Aging Neuroscience

Li, Nuomin N; Liu, Kefu K; Qiu, Yunjie Y; Ren, Zehui Z; Dai, Rongji R; Deng, Yulin Y; Qing, Hong H

Publication Date: 2016

Variant appearance in text: PSEN1: L113P

PubMed Link: 27014058

Variant Present in the following documents:

• fnagi-08-00051.pdf

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Analyzing and Quantifying the Gain-of-Function Enhancement of IP3 Receptor Gating by Familial Alzheimer's Disease-Causing Mutants in Presenilins.

Plos Computational Biology

Mak, Don-On Daniel DO; Cheung, King-Ho KH; Toglia, Patrick P; Foskett, J Kevin JK; Ullah, Ghanim G

Publication Date: 2015-10

Variant appearance in text: PS1: L113P

PubMed Link: 26439382

Variant Present in the following documents:

• Main text
• pcbi.1004529.pdf

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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: PS1: L113P

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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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: L113P

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

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Familial dementia with frontotemporal features associated with M146V presenilin-1 mutation.

Brain Pathology (Zurich, Switzerland)

Riudavets, Miguel A MA; Bartoloni, Leonardo L; Troncoso, Juan C JC; Pletnikova, Olga O; St George-Hyslop, Peter P; Schultz, Marcelo M; Sevlever, Gustavo G; Allegri, Ricardo F RF

Publication Date: 2013-09

Variant appearance in text: PSEN1: Leu113Pro

PubMed Link: 23489366

Variant Present in the following documents:

• Main text

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Advances in the pathogenesis of Alzheimer's disease: a re-evaluation of amyloid cascade hypothesis.

Translational Neurodegeneration

Dong, Suzhen S; Duan, Yale Y; Hu, Yinghe Y; Zhao, Zheng Z

Publication Date: 2012-09-21

Variant appearance in text: PS1: L113P

PubMed Link: 23210692

Variant Present in the following documents:

• Main text
• 2047-9158-1-18.pdf

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Familial frontotemporal dementia-associated presenilin-1 c.548G>T mutation causes decreased mRNA expression and reduced presenilin function in knock-in mice.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Watanabe, Hirotaka H; Xia, Dan D; Kanekiyo, Takahisa T; Kelleher, Raymond J RJ; Shen, Jie J

Publication Date: 2012-04-11

Variant appearance in text: PSEN1: 338T>C

PubMed Link: 22496554

Variant Present in the following documents:

• Main text

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Presenilins in synaptic function and disease.

Trends In Molecular Medicine

Ho, Angela A; Shen, Jie J

Publication Date: 2011-11

Variant appearance in text: PS1: Leu113Pro

PubMed Link: 21795114

Variant Present in the following documents:

• Main text

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Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis.

Cell Calcium

Supnet, Charlene C; Bezprozvanny, Ilya I

Publication Date: 2011-09

Variant appearance in text: PS1: L113P

PubMed Link: 21663966

Variant Present in the following documents:

• Main text

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Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.

Journal Of Alzheimer'S Disease : Jad

Nelson, Omar O; Supnet, Charlene C; Liu, Huarui H; Bezprozvanny, Ilya I

Publication Date: 2010

Variant appearance in text: PS1: L113P

PubMed Link: 20634584

Variant Present in the following documents:

• Main text

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Presenilin/gamma-Secretase and Inflammation.

Frontiers In Aging Neuroscience

Saura, Carlos A CA

Publication Date: 2010

Variant appearance in text: PSEN1: L113P

PubMed Link: 20559464

Variant Present in the following documents:

• Main text
• fnagi-02-00016.pdf

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Gain-of-function enhancement of IP3 receptor modal gating by familial Alzheimer's disease-linked presenilin mutants in human cells and mouse neurons.

Science Signaling

Cheung, King-Ho KH; Mei, Lijuan L; Mak, Don-On Daniel DO; Hayashi, Ikuo I; Iwatsubo, Takeshi T; Kang, David E DE; Foskett, J Kevin JK

Publication Date: 2010-03-23

Variant appearance in text: PS1: L113P

PubMed Link: 20332427

Variant Present in the following documents:

• Main text

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Frontotemporal lobar degeneration: current concepts in the light of recent advances.

Brain Pathology (Zurich, Switzerland)

Kumar-Singh, Samir S; Van Broeckhoven, Christine C

Publication Date: 2007-01

Variant appearance in text: PSEN1: Leu113Pro

PubMed Link: 17493044

Variant Present in the following documents:

• Main text

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Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1.

The Journal Of Clinical Investigation

Nelson, Omar O; Tu, Huiping H; Lei, Tianhua T; Bentahir, Mostafa M; de Strooper, Bart B; Bezprozvanny, Ilya I

Publication Date: 2007-05

Variant appearance in text: PS1: L113P

PubMed Link: 17431506

Variant Present in the following documents:

• Main text

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The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Shen, Jie J; Kelleher, Raymond J RJ

Publication Date: 2007-01-09

Variant appearance in text: PS1: L113P

PubMed Link: 17197420

Variant Present in the following documents:

• Main text

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