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: Pro284Leu

PubMed Link: 37176125

Variant Present in the following documents:

• Main text
• ijms-24-08417.pdf

View BVdb publication page

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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: Pro284Leu

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: PSEN1: 851C>T; Pro284Leu; rs63750863

PubMed Link: 35260199

Variant Present in the following documents:

• Main text
• 13073_2022_1035_MOESM9_ESM.xlsx, sheet 1
• 13073_2022_Article_1035.pdf
• 13073_2022_1035_MOESM7_ESM.pdf
• 13073_2022_1035_MOESM8_ESM.xlsx, sheet 1

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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: Pro284Leu

PubMed Link: 34331941

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-09-25

Variant appearance in text: PSEN1: Pro284Leu

PubMed Link: 31557888

Variant Present in the following documents:

• Main text
• ijms-20-04757.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: P284L

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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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: P284L

PubMed Link: 30716424

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: P284L

PubMed Link: 30090657

Variant Present in the following documents:

• Main text
• ad-9-4-696.pdf

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Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.

Oncotarget

Grigorenko, Anastasia P AP; Moliaka, Youri K YK; Plotnikova, Olga V OV; Smirnov, Alexander A; Nikishina, Vera A VA; Goltsov, Andrey Y AY; Gusev, Fedor F; Andreeva, Tatiana V TV; Nelson, Omar O; Bezprozvanny, Ilya I; Rogaev, Evgeny I EI

Publication Date: 2017-10-10

Variant appearance in text: PSEN1: P284L; rs63750863

PubMed Link: 29137240

Variant Present in the following documents:

• oncotarget-08-82006-s001.pdf

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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: Pro284Leu

PubMed Link: 27799753

Variant Present in the following documents:

• Main text
• cia-11-1467.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: PS1: P284L

PubMed Link: 27014058

Variant Present in the following documents:

• Main text
• fnagi-08-00051.pdf

View BVdb publication page

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Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.

Journal Of Human Genetics

Kasuga, Kensaku K; Kikuchi, Masataka M; Tokutake, Takayoshi T; Nakaya, Akihiro A; Tezuka, Toshiyuki T; Tsukie, Tamao T; Hara, Norikazu N; Miyashita, Akinori A; Kuwano, Ryozo R; Ikeuchi, Takeshi T

Publication Date: 2015-05

Variant appearance in text: PSEN1: Pro284Leu

PubMed Link: 25694106

Variant Present in the following documents:

• jhg201515x1.pdf

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Changed membrane integration and catalytic site conformation are two mechanisms behind the increased Aβ42/Aβ40 ratio by presenilin 1 familial Alzheimer-linked mutations.

Febs Open Bio

Wanngren, Johanna J; Lara, Patricia P; Ojemalm, Karin K; Maioli, Silvia S; Moradi, Nasim N; Chen, Lu L; Tjernberg, Lars O LO; Lundkvist, Johan J; Nilsson, IngMarie I; Karlström, Helena H

Publication Date: 2014

Variant appearance in text: PS1: P284L

PubMed Link: 24918054

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: Pro284Leu

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: P284L

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

View BVdb publication page

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