Publications:

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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: 626G>T; Gly209Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Aβ and tau prions feature in the neuropathogenesis of Down syndrome.

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

Condello, Carlo C; Maxwell, Alison M AM; Castillo, Erika E; Aoyagi, Atsushi A; Graff, Caroline C; Ingelsson, Martin M; Lannfelt, Lars L; Bird, Thomas D TD; Keene, C Dirk CD; Seeley, William W WW; Perl, Daniel P DP; Head, Elizabeth E; Prusiner, Stanley B SB

Publication Date: 2022-11-16

Variant appearance in text: PSEN1: G209V

PubMed Link: 36343257

Variant Present in the following documents:

• pnas.2212954119.sapp.pdf

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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: Gly209Val

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.

Frontiers In Aging Neuroscience

Orozco-Barajas, Maribel M; Oropeza-Ruvalcaba, Yulisa Y; Canales-Aguirre, Alejandro A AA; Sánchez-González, Victor J VJ

Publication Date: 2022

Variant appearance in text: PSEN1: G209V

PubMed Link: 35959289

Variant Present in the following documents:

• Main text
• fnagi-14-860529.pdf

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: PSEN1: 626G>T; Gly209Val

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4
• pcbi.1010013.s002.xlsx, sheet 2

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: PSEN1: 626G>T; Gly209Val

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

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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: G209V

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Scientific Reports

Giau, Vo Van VV; Bagyinszky, Eva E; Yang, Young Soon YS; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, Sang Yun SY

Publication Date: 2019-06-10

Variant appearance in text: PS1: Gly209Val

PubMed Link: 31182772

Variant Present in the following documents:

• Main text
• 41598_2019_Article_44848.pdf

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Blood-Brain Barrier: From Physiology to Disease and Back.

Physiological Reviews

Sweeney, Melanie D MD; Zhao, Zhen Z; Montagne, Axel A; Nelson, Amy R AR; Zlokovic, Berislav V BV

Publication Date: 2019-01-01

Variant appearance in text: PSEN1: G209V

PubMed Link: 30280653

Variant Present in the following documents:

• Main text

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The Whole Exome Sequencing Clarifies the Genotype- Phenotype Correlations in Patients with Early-Onset Dementia.

Aging And Disease

Xu, Yangqi Y; Liu, Xiaoli X; Shen, Junyi J; Tian, Wotu W; Fang, Rong R; Li, Binyin B; Ma, Jianfang J; Cao, Li L; Chen, Shengdi S; Li, Guanjun G; Tang, Huidong H

Publication Date: 2018-08

Variant appearance in text: PSEN1: G209V

PubMed Link: 30090657

Variant Present in the following documents:

• Main text

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Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Alzheimer'S Research & Therapy

Karch, Celeste M CM; Hernández, Damián D; Wang, Jen-Chyong JC; Marsh, Jacob J; Hewitt, Alex W AW; Hsu, Simon S; Norton, Joanne J; Levitch, Denise D; Donahue, Tamara T; Sigurdson, Wendy W; Ghetti, Bernardino B; Farlow, Martin M; Chhatwal, Jasmeer J; Berman, Sarah S; Cruchaga, Carlos C; Morris, John C JC; Bateman, Randall J RJ; , ; Pébay, Alice A; Goate, Alison M AM

Publication Date: 2018-07-25

Variant appearance in text: PSEN1: G209V

PubMed Link: 30045758

Variant Present in the following documents:

• Main text
• 13195_2018_Article_400.pdf

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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: G209V

PubMed Link: 27930341

Variant Present in the following documents:

• Main text

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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: Gly209Val

PubMed Link: 27799753

Variant Present in the following documents:

• Main text
• cia-11-1467.pdf

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Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.

Bmc Neurology

An, Seong Soo A SS; Bagyinszky, Eva E; Kim, Hye Ryoun HR; Seok, Ju-Won JW; Shin, Hae-Won HW; Bae, SeunOh S; Kim, SangYun S; Youn, Young Chul YC

Publication Date: 2016-05-20

Variant appearance in text: PS1: G209V

PubMed Link: 27206484

Variant Present in the following documents:

• Main text
• 12883_2016_Article_591.pdf

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Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency.

Cell Reports

Reddy, Kavya K; Cusack, Corey L CL; Nnah, Israel C IC; Khayati, Khoosheh K; Saqcena, Chaitali C; Huynh, Tuong B TB; Noggle, Scott A SA; Ballabio, Andrea A; Dobrowolski, Radek R

Publication Date: 2016-03-08

Variant appearance in text: PS1: G209V

PubMed Link: 26923592

Variant Present in the following documents:

• Main text
• mmc2.pdf

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Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database.

Journal Of Neuropathology And Experimental Neurology

Ringman, John M JM; Monsell, Sarah S; Ng, Denise W DW; Zhou, Yan Y; Nguyen, Andy A; Coppola, Giovanni G; Van Berlo, Victoria V; Mendez, Mario F MF; Tung, Spencer S; Weintraub, Sandra S; Mesulam, Marek-Marsel MM; Bigio, Eileen H EH; Gitelman, Darren R DR; Fisher-Hubbard, Amanda O AO; Albin, Roger L RL; Vinters, Harry V HV

Publication Date: 2016-03

Variant appearance in text: PSEN1: G209V

PubMed Link: 26888304

Variant Present in the following documents:

• Main text

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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: G209V

PubMed Link: 26818522

Variant Present in the following documents:

• Main text

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Evidence for Mitochondrial UPR Gene Activation in Familial and Sporadic Alzheimer's Disease.

Current Alzheimer Research

Beck, John S JS; Mufson, Elliott J EJ; Counts, Scott E SE

Publication Date: 2016

Variant appearance in text: PS1: G209V

PubMed Link: 26687188

Variant Present in the following documents:

• Main text

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Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Current Neurology And Neuroscience Reports

Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,

Publication Date: 2014-11

Variant appearance in text: PSEN1: Gly209Val

PubMed Link: 25217249

Variant Present in the following documents:

• Main text

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U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21.

Molecular Neurodegeneration

Hales, Chadwick M CM; Seyfried, Nicholas T NT; Dammer, Eric B EB; Duong, Duc D; Yi, Hong H; Gearing, Marla M; Troncoso, Juan C JC; Mufson, Elliott J EJ; Thambisetty, Madhav M; Levey, Allan I AI; Lah, James J JJ

Publication Date: 2014-04-28

Variant appearance in text: PS1: G209V

PubMed Link: 24773620

Variant Present in the following documents:

• Main text
• 1750-1326-9-15.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: PSEN1: Gly209Val

PubMed Link: 24729694

Variant Present in the following documents:

• Main text

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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: G209V

PubMed Link: 24377094

Variant Present in the following documents:

• Main text

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Upregulated function of mitochondria-associated ER membranes in Alzheimer disease.

The Embo Journal

Area-Gomez, Estela E; Del Carmen Lara Castillo, Maria M; Tambini, Marc D MD; Guardia-Laguarta, Cristina C; de Groof, Ad J C AJ; Madra, Moneek M; Ikenouchi, Junichi J; Umeda, Masato M; Bird, Thomas D TD; Sturley, Stephen L SL; Schon, Eric A EA

Publication Date: 2012-11-05

Variant appearance in text: PS1: G209V

PubMed Link: 22892566

Variant Present in the following documents:

• emboj2012202s1.pdf

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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: G209V

PubMed Link: 17197420

Variant Present in the following documents:

• Main text

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Presenilin-dependent gamma-secretase-mediated control of p53-associated cell death in Alzheimer's disease.

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

Alves da Costa, Cristine C; Sunyach, Claire C; Pardossi-Piquard, Raphaelle R; Sévalle, Jean J; Vincent, Bruno B; Boyer, Nicole N; Kawarai, Toshitaka T; Girardot, Nadège N; St George-Hyslop, Peter P; Checler, Frédéric F

Publication Date: 2006-06-07

Variant appearance in text: PS1: G209V

PubMed Link: 16763046

Variant Present in the following documents:

• Main text

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A presenilin dimer at the core of the gamma-secretase enzyme: insights from parallel analysis of Notch 1 and APP proteolysis.

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

Schroeter, Eric H EH; Ilagan, Ma Xenia G MX; Brunkan, Anne L AL; Hecimovic, Silva S; Li, Yue-ming YM; Xu, Min M; Lewis, Huw D HD; Saxena, Meera T MT; De Strooper, Bart B; Coonrod, Archie A; Tomita, Taisuke T; Iwatsubo, Takeshi T; Moore, Chad L CL; Goate, Alison A; Wolfe, Michael S MS; Shearman, Mark M; Kopan, Raphael R

Publication Date: 2003-10-28

Variant appearance in text: PS1: G209V

PubMed Link: 14566063

Variant Present in the following documents:

• Main text

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Presenilin 1 controls gamma-secretase processing of amyloid precursor protein in pre-golgi compartments of hippocampal neurons.

The Journal Of Cell Biology

Annaert, W G WG; Levesque, L L; Craessaerts, K K; Dierinck, I I; Snellings, G G; Westaway, D D; George-Hyslop, P S PS; Cordell, B B; Fraser, P P; De Strooper, B B

Publication Date: 1999-10-18

Variant appearance in text: PS1: G209V

PubMed Link: 10525535

Variant Present in the following documents:

• 9904015.pdf

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