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: Glu280Gly

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: 839A>G; Glu280Gly

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The PSEN1 E280G mutation leads to increased amyloid-β43 production in induced pluripotent stem cell neurons and deposition in brain tissue.

Brain Communications

Willumsen, Nanet N; Arber, Charles C; Lovejoy, Christopher C; Toombs, Jamie J; Alatza, Argyro A; Weston, Philip S J PSJ; Chávez-Gutiérrez, Lucia L; Hardy, John J; Zetterberg, Henrik H; Fox, Nick C NC; Ryan, Natalie S NS; Lashley, Tammaryn T; Wray, Selina S

Publication Date: 2023

Variant appearance in text: PSEN1: E280G

PubMed Link: 36687397

Variant Present in the following documents:

• Main text
• fcac321_supplementary_data.pdf
• fcac321.pdf

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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: E280G

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: PS1: E280G

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Genome Medicine

Acosta-Uribe, Juliana J; Aguillón, David D; Cochran, J Nicholas JN; Giraldo, Margarita M; Madrigal, Lucía L; Killingsworth, Bradley W BW; Singhal, Rijul R; Labib, Sarah S; Alzate, Diana D; Velilla, Lina L; Moreno, Sonia S; García, Gloria P GP; Saldarriaga, Amanda A; Piedrahita, Francisco F; Hincapié, Liliana L; López, Hugo E HE; Perumal, Nithesh N; Morelo, Leonilde L; Vallejo, Dionis D; Solano, Juan Marcos JM; Reiman, Eric M EM; Surace, Ezequiel I EI; Itzcovich, Tatiana T; Allegri, Ricardo R; Sánchez-Valle, Raquel R; Villegas-Lanau, Andrés A; White, Charles L CL; Matallana, Diana D; Myers, Richard M RM; Browning, Sharon R SR; Lopera, Francisco F; Kosik, Kenneth S KS

Publication Date: 2022-03-08

Variant appearance in text: PS1: E280G; rs63750231

PubMed Link: 35260199

Variant Present in the following documents:

• 13073_2022_Article_1035.pdf

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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: E280G

PubMed Link: 34331941

Variant Present in the following documents:

• main.pdf

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Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)

Willumsen, Nanet N; Poole, Teresa T; Nicholas, Jennifer M JM; Fox, Nick C NC; Ryan, Natalie S NS; Lashley, Tammaryn T

Publication Date: 2022-05

Variant appearance in text: PSEN1: E280G

PubMed Link: 34319632

Variant Present in the following documents:

• Main text
• BPA-32-e13009.pdf

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Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.

Alzheimer'S & Dementia (Amsterdam, Netherlands)

Chelban, Viorica V; Breza, Marianthi M; Szaruga, Maria M; Vandrovcova, Jana J; Murphy, David D; Lee, Chia-Ju CJ; Alikhwan, Sondos S; Bourinaris, Thomas T; Vavougios, George G; Ilyas, Muhammad M; Halim, Sobia Ahsan SA; Al-Harrasi, Ahmed A; Kartanou, Chrisoula C; Ronald, Coras C; Blumcke, Ingmar I; Alexoudi, Athanasia A; Gatzonis, Stylianos S; Stefanis, Leonidas L; Karadima, Georgia G; Wood, Nicholas W NW; Chávez-Gutiérrez, Lucía L; Hardy, John J; Houlden, Henry H; Koutsis, Georgios G

Publication Date: 2021

Variant appearance in text: PSEN1: Glu280Gly

PubMed Link: 33969176

Variant Present in the following documents:

• Main text

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Plasma amyloid-β ratios in autosomal dominant Alzheimer's disease: the influence of genotype.

Brain : A Journal Of Neurology

O'Connor, Antoinette A; Pannee, Josef J; Poole, Teresa T; Arber, Charles C; Portelius, Erik E; Swift, Imogen J IJ; Heslegrave, Amanda J AJ; Abel, Emily E; Willumsen, Nanet N; Rice, Helen H; Weston, Philip S J PSJ; Ryan, Natalie S NS; Polke, James M JM; Nicholas, Jennifer M JM; Mead, Simon S; Wray, Selina S; Chávez-Gutiérrez, Lucía L; Frost, Chris C; Blennow, Kaj K; Zetterberg, Henrik H; Fox, Nick C NC

Publication Date: 2021-11-29

Variant appearance in text: PSEN1: E280G

PubMed Link: 33892504

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.

Cell Reports

Arber, Charles C; Lovejoy, Christopher C; Harris, Lachlan L; Willumsen, Nanet N; Alatza, Argyro A; Casey, Jackie M JM; Lines, Georgie G; Kerins, Caoimhe C; Mueller, Anika K AK; Zetterberg, Henrik H; Hardy, John J; Ryan, Natalie S NS; Fox, Nick C NC; Lashley, Tammaryn T; Wray, Selina S

Publication Date: 2021-01-12

Variant appearance in text: PSEN1: E280G

PubMed Link: 33440141

Variant Present in the following documents:

• Main text
• mmc3.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: 839A>G; Glu280Gly

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: E280G

PubMed Link: 32477171

Variant Present in the following documents:

• Main text
• fpsyt-11-00347.pdf

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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: E280G

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

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Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer's disease with cotton wool plaques due to a novel presenilin1 G417S mutation.

Acta Neuropathologica Communications

Miki, Tomoko T; Yokota, Osamu O; Haraguchi, Takashi T; Ikeuchi, Takeshi T; Zhu, Bin B; Takenoshita, Shintaro S; Terada, Seishi S; Yamada, Norihito N

Publication Date: 2019-02-12

Variant appearance in text: PSEN1: E280G

PubMed Link: 30755281

Variant Present in the following documents:

• Main text
• 40478_2019_Article_672.pdf

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Homozygosity for the A431E mutation in PSEN1 presenting with a relatively aggressive phenotype.

Neuroscience Letters

Parker, John J; Mozaffar, Tahseen T; Messmore, Ashlynn A; Deignan, Joshua L JL; Kimonis, Virginia E VE; Ringman, John M JM

Publication Date: 2019-04-23

Variant appearance in text: PSEN1: E280G

PubMed Link: 30716424

Variant Present in the following documents:

• Main text

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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: E280G

PubMed Link: 27930341

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Glu280Gly

PubMed Link: 27799753

Variant Present in the following documents:

• Main text

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Presymptomatic cortical thinning in familial Alzheimer disease: A longitudinal MRI study.

Neurology

Weston, Philip S J PS; Nicholas, Jennifer M JM; Lehmann, Manja M; Ryan, Natalie S NS; Liang, Yuying Y; Macpherson, Kirsty K; Modat, Marc M; Rossor, Martin N MN; Schott, Jonathan M JM; Ourselin, Sebastien S; Fox, Nick C NC

Publication Date: 2016-11-08

Variant appearance in text: PSEN1: E280G

PubMed Link: 27733562

Variant Present in the following documents:

• Main text
• NEUROLOGY2016717579.pdf

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Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family.

Neuropsychiatric Disease And Treatment

Ch'ng, Gaik-Siew GS; An, Seong Soo A SS; Bae, Sun Oh SO; Bagyinszky, Eva E; Kim, SangYun S

Publication Date: 2015

Variant appearance in text: PSEN1: E280G

PubMed Link: 26396515

Variant Present in the following documents:

• Main text

View BVdb publication page

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A knowledge network for a dynamic taxonomy of psychiatric disease.

Dialogues In Clinical Neuroscience

Krishnan, Ranga R RR

Publication Date: 2015-03

Variant appearance in text: PSEN1: E280G

PubMed Link: 25987866

Variant Present in the following documents:

• DialoguesClinNeurosci-17-79.pdf

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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: Glu280Gly

PubMed Link: 25217249

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Glu280Gly

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Familial Alzheimer's disease-associated presenilin-1 alters cerebellar activity and calcium homeostasis.

The Journal Of Clinical Investigation

Sepulveda-Falla, Diego D; Barrera-Ocampo, Alvaro A; Hagel, Christian C; Korwitz, Anne A; Vinueza-Veloz, Maria Fernanda MF; Zhou, Kuikui K; Schonewille, Martijn M; Zhou, Haibo H; Velazquez-Perez, Luis L; Rodriguez-Labrada, Roberto R; Villegas, Andres A; Ferrer, Isidro I; Lopera, Francisco F; Langer, Thomas T; De Zeeuw, Chris I CI; Glatzel, Markus M

Publication Date: 2014-04

Variant appearance in text: PS1: E280G

PubMed Link: 24569455

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: E280G

PubMed Link: 24377094

Variant Present in the following documents:

• Main text

View BVdb publication page

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BIN1 is decreased in sporadic but not familial Alzheimer's disease or in aging.

Plos One

Glennon, Elizabeth B C EB; Whitehouse, Isobel J IJ; Miners, J Scott JS; Kehoe, Patrick G PG; Love, Seth S; Kellett, Katherine A B KA; Hooper, Nigel M NM

Publication Date: 2013

Variant appearance in text: PS1: E280G

PubMed Link: 24205320

Variant Present in the following documents:

• Main text
• pone.0078806.pdf

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Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer's disease.

Brain : A Journal Of Neurology

Ryan, Natalie S NS; Keihaninejad, Shiva S; Shakespeare, Timothy J TJ; Lehmann, Manja M; Crutch, Sebastian J SJ; Malone, Ian B IB; Thornton, John S JS; Mancini, Laura L; Hyare, Harpreet H; Yousry, Tarek T; Ridgway, Gerard R GR; Zhang, Hui H; Modat, Marc M; Alexander, Daniel C DC; Rossor, Martin N MN; Ourselin, Sebastien S; Fox, Nick C NC

Publication Date: 2013-05

Variant appearance in text: PSEN1: E280G

PubMed Link: 23539189

Variant Present in the following documents:

• Main text
• awt065.pdf

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Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations.

Journal Of Alzheimer'S Disease : Jad

Scahill, Rachael I RI; Ridgway, Gerard R GR; Bartlett, Jonathan W JW; Barnes, Josephine J; Ryan, Natalie S NS; Mead, Simon S; Beck, Jonathan J; Clarkson, Matthew J MJ; Crutch, Sebastian J SJ; Schott, Jonathan M JM; Ourselin, Sebastien S; Warren, Jason D JD; Hardy, John J; Rossor, Martin N MN; Fox, Nick C NC

Publication Date: 2013

Variant appearance in text: PSEN1: E280G

PubMed Link: 23380992

Variant Present in the following documents:

• Main text

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Cerebral microbleeds in familial Alzheimer's disease.

Brain : A Journal Of Neurology

Ryan, Natalie S NS; Bastos-Leite, António J AJ; Rohrer, Jonathan D JD; Werring, David J DJ; Fox, Nick C NC; Rossor, Martin N MN; Schott, Jonathan M JM

Publication Date: 2012-01

Variant appearance in text: PSEN1: E280G

PubMed Link: 21685457

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: E280G

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: E280G

PubMed Link: 20634584

Variant Present in the following documents:

• Main text

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Ligand binding and calcium influx induce distinct ectodomain/gamma-secretase-processing pathways of EphB2 receptor.

The Journal Of Biological Chemistry

Litterst, Claudia C; Georgakopoulos, Anastasios A; Shioi, Junichi J; Ghersi, Enrico E; Wisniewski, Thomas T; Wang, Rong R; Ludwig, Andreas A; Robakis, Nikolaos K NK

Publication Date: 2007-06-01

Variant appearance in text: PS1: E280G

PubMed Link: 17428795

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: E280G

PubMed Link: 17197420

Variant Present in the following documents:

• Main text

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Metalloproteinase/Presenilin1 processing of ephrinB regulates EphB-induced Src phosphorylation and signaling.

The Embo Journal

Georgakopoulos, Anastasios A; Litterst, Claudia C; Ghersi, Enrico E; Baki, Lia L; Xu, ChiJie C; Serban, Geo G; Robakis, Nikolaos K NK

Publication Date: 2006-03-22

Variant appearance in text: PS1: E280G

PubMed Link: 16511561

Variant Present in the following documents:

• Main text

View BVdb publication page

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