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: 275G>C; Cys92Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Chaperone-Dependent Mechanisms as a Pharmacological Target for Neuroprotection.

International Journal Of Molecular Sciences

Voronin, Mikhail V MV; Abramova, Elena V EV; Verbovaya, Ekaterina R ER; Vakhitova, Yulia V YV; Seredenin, Sergei B SB

Publication Date: 2023-01-03

Variant appearance in text: PSEN1: Cys92Ser; rs63751141

PubMed Link: 36614266

Variant Present in the following documents:

• Main text
• ijms-24-00823.pdf

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Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort.

Frontiers In Aging Neuroscience

Rossi, Giacomina G; Salvi, Erika E; Mehmeti, Elkadia E; Ricci, Martina M; Villa, Cristina C; Prioni, Sara S; Moda, Fabio F; Di Fede, Giuseppe G; Tiraboschi, Pietro P; Redaelli, Veronica V; Coppola, Cinzia C; Koch, Giacomo G; Canu, Elisa E; Filippi, Massimo M; Agosta, Federica F; Giaccone, Giorgio G; Caroppo, Paola P

Publication Date: 2022

Variant appearance in text: PSEN1: C92S

PubMed Link: 36570531

Variant Present in the following documents:

• Main text
• fnagi-14-1085406.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: Cys92Ser

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Frontiers In Aging Neuroscience

Bartoletti-Stella, Anna A; Tarozzi, Martina M; Mengozzi, Giacomo G; Asirelli, Francesca F; Brancaleoni, Laura L; Mometto, Nicola N; Stanzani-Maserati, Michelangelo M; Baiardi, Simone S; Linarello, Simona S; Spallazzi, Marco M; Pantieri, Roberta R; Ferriani, Elisa E; Caffarra, Paolo P; Liguori, Rocco R; Parchi, Piero P; Capellari, Sabina S

Publication Date: 2022

Variant appearance in text: PSEN1: 275G>C; Cys92Ser

PubMed Link: 36133075

Variant Present in the following documents:

• Main text
• fnagi-14-969817.pdf

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A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.

Brain Sciences

Bagyinszky, Eva E; Ch'ng, Gaik-Siew GS; Chan, Mei-Yan MY; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2021-10-08

Variant appearance in text: PSEN1: Cys92Ser

PubMed Link: 34679393

Variant Present in the following documents:

• Main text
• brainsci-11-01328.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: C92S

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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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: PSEN1: C92S; rs63751141

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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: C92S

PubMed Link: 29137240

Variant Present in the following documents:

• Main text
• oncotarget-08-82006.pdf

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Identification of tetrahydrocarbazoles as novel multifactorial drug candidates for treatment of Alzheimer's disease.

Translational Psychiatry

Honarnejad, K K; Daschner, A A; Gehring, A P AP; Szybinska, A A; Giese, A A; Kuznicki, J J; Bracher, F F; Herms, J J

Publication Date: 2014-12-16

Variant appearance in text: PS1: C92S

PubMed Link: 25514752

Variant Present in the following documents:

• Main text
• tp2014132a.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: Cys92Ser

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: Cys92Ser

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: C92S

PubMed Link: 24377094

Variant Present in the following documents:

• Main text

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Development and implementation of a high-throughput compound screening assay for targeting disrupted ER calcium homeostasis in Alzheimer's disease.

Plos One

Honarnejad, Kamran K; Daschner, Alexander A; Giese, Armin A; Zall, Andrea A; Schmidt, Boris B; Szybinska, Aleksandra A; Kuznicki, Jacek J; Herms, Jochen J

Publication Date: 2013

Variant appearance in text: PS1: C92S

PubMed Link: 24260442

Variant Present in the following documents:

• Main text
• pone.0080645.pdf

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Overlapping profiles of Aβ peptides in the Alzheimer's disease and pathological aging brains.

Alzheimer'S Research & Therapy

Moore, Brenda D BD; Chakrabarty, Paramita P; Levites, Yona Y; Kukar, Tom L TL; Baine, Ann-Marie AM; Moroni, Tina T; Ladd, Thomas B TB; Das, Pritam P; Dickson, Dennis W DW; Golde, Todd E TE

Publication Date: 2012-05-23

Variant appearance in text: PS1: C92S

PubMed Link: 22621179

Variant Present in the following documents:

• alzrt121.pdf

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The 28-amino acid form of an APLP1-derived Abeta-like peptide is a surrogate marker for Abeta42 production in the central nervous system.

Embo Molecular Medicine

Yanagida, Kanta K; Okochi, Masayasu M; Tagami, Shinji S; Nakayama, Taisuke T; Kodama, Takashi S TS; Nishitomi, Kouhei K; Jiang, Jingwei J; Mori, Kohji K; Tatsumi, Shin-Ichi S; Arai, Tetsuaki T; Ikeuchi, Takeshi T; Kasuga, Kensaku K; Tokuda, Takahiko T; Kondo, Masaki M; Ikeda, Masaki M; Deguchi, Kentaro K; Kazui, Hiroaki H; Tanaka, Toshihisa T; Morihara, Takashi T; Hashimoto, Ryota R; Kudo, Takashi T; Steiner, Harald H; Haass, Christian C; Tsuchiya, Kuniaki K; Akiyama, Haruhiko H; Kuwano, Ryozo R; Takeda, Masatoshi M

Publication Date: 2009-07

Variant appearance in text: PS1: C92S

PubMed Link: 20049724

Variant Present in the following documents:

• Main text
• emmm0001-0223.pdf

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E2-25K/Hip-2 regulates caspase-12 in ER stress-mediated Abeta neurotoxicity.

The Journal Of Cell Biology

Song, Sungmin S; Lee, Huikyong H; Kam, Tae-In TI; Tai, Mei Ling ML; Lee, Joo-Yong JY; Noh, Jee-Yeon JY; Shim, Sang Mi SM; Seo, Soo Jung SJ; Kong, Young-Yun YY; Nakagawa, Toshiyuki T; Chung, Chul-Woong CW; Choi, Deog-Young DY; Oubrahim, Hammou H; Jung, Yong-Keun YK

Publication Date: 2008-08-25

Variant appearance in text: PS1: C92S

PubMed Link: 18710920

Variant Present in the following documents:

• jcb1820675.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: C92S

PubMed Link: 17197420

Variant Present in the following documents:

• Main text

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Deducing the transmembrane domain organization of presenilin-1 in gamma-secretase by cysteine disulfide cross-linking.

Biochemistry

Kornilova, Anna Y AY; Kim, Jennifer J; Laudon, Hanna H; Wolfe, Michael S MS

Publication Date: 2006-06-20

Variant appearance in text: PS1: C92S

PubMed Link: 16768455

Variant Present in the following documents:

• Main text

View BVdb publication page

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Presenilins mediate a dual intramembranous gamma-secretase cleavage of Notch-1.

The Embo Journal

Okochi, Masayasu M; Steiner, Harald H; Fukumori, Akio A; Tanii, Hisashi H; Tomita, Taisuke T; Tanaka, Toshihisa T; Iwatsubo, Takeshi T; Kudo, Takashi T; Takeda, Masatoshi M; Haass, Christian C

Publication Date: 2002-10-15

Variant appearance in text: PS1: C92S

PubMed Link: 12374741

Variant Present in the following documents:

• Main text

View BVdb publication page

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