Publications:

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Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Novotny, Brenna C BC; Fernandez, Maria Victoria MV; Wang, Ciyang C; Budde, John P JP; Bergmann, Kristy K; Eteleeb, Abdallah M AM; Bradley, Joseph J; Webster, Carol C; Ebl, Curtis C; Norton, Joanne J; Gentsch, Jen J; Dube, Umber U; Wang, Fengxian F; Morris, John C JC; Bateman, Randall J RJ; Perrin, Richard J RJ; McDade, Eric E; Xiong, Chengjie C; Chhatwal, Jasmeer J; , ; , ; , ; Goate, Alison A; Farlow, Martin M; Schofield, Peter P; Chui, Helena H; Karch, Celeste M CM; Cruchaga, Carlos C; Benitez, Bruno A BA; Harari, Oscar O

Publication Date: 2022-10-17

Variant appearance in text: PSEN1: Gly206Val

PubMed Link: 36251323

Variant Present in the following documents:

• NIHMS1865189-supplement-SUPPORTING_INFORMATION_3.xlsx, sheet 1

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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: Gly206Val

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: G206V

PubMed Link: 35365805

Variant Present in the following documents:

• Main text
• 41380_2022_Article_1518.pdf

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Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.

Translational Psychiatry

Kakuda, Nobuto N; Takami, Mako M; Okochi, Masayasu M; Kasuga, Kensaku K; Ihara, Yasuo Y; Ikeuchi, Takeshi T

Publication Date: 2021-11-03

Variant appearance in text: PS1: G206V

PubMed Link: 34728605

Variant Present in the following documents:

• Main text
• 41398_2021_1684_MOESM3_ESM.pdf
• 41398_2021_Article_1684.pdf

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Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.

Translational Psychiatry

Kakuda, Nobuto N; Takami, Mako M; Okochi, Masayasu M; Kasuga, Kensaku K; Ihara, Yasuo Y; Ikeuchi, Takeshi T

Publication Date: 2021-11-03

Variant appearance in text: PS1: G206V

PubMed Link: 34728605

Variant Present in the following documents:

• Main text
• 41398_2021_1684_MOESM3_ESM.pdf
• 41398_2021_Article_1684.pdf

View BVdb publication page

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Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Molecular Genetics & Genomic Medicine

Qin, Qi Q; Yin, Yunsi Y; Wang, Yan Y; Lu, Yuanyuan Y; Tang, Yi Y; Jia, Jianping J

Publication Date: 2020-10

Variant appearance in text: PSEN1: 617G>T

PubMed Link: 32767553

Variant Present in the following documents:

• Main text
• MGG3-8-e1443.pdf

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Accelerated loss of hypoxia response in zebrafish with familial Alzheimer's disease-like mutation of presenilin 1.

Human Molecular Genetics

Newman, Morgan M; Nik, Hani Moussavi HM; Sutherland, Greg T GT; Hin, Nhi N; Kim, Woojin S WS; Halliday, Glenda M GM; Jayadev, Suman S; Smith, Carole C; Laird, Angela S AS; Lucas, Caitlin W CW; Kittipassorn, Thaksaon T; Peet, Dan J DJ; Lardelli, Michael M

Publication Date: 2020-08-11

Variant appearance in text: PSEN1: G206V

PubMed Link: 32588886

Variant Present in the following documents:

• Main text

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The Genetics of Alzheimer's Disease in the Chinese Population.

International Journal Of Molecular Sciences

Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH

Publication Date: 2020-03-30

Variant appearance in text: PSEN1: G206V

PubMed Link: 32235595

Variant Present in the following documents:

• Main text
• ijms-21-02381.pdf

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Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations.

Neurobiology Of Disease

Pimenova, Anna A AA; Goate, Alison M AM

Publication Date: 2020-05

Variant appearance in text: PSEN1: G206V

PubMed Link: 32032730

Variant Present in the following documents:

• Main text

View BVdb publication page

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Two Novel Mutations and a de novo Mutation in PSEN1 in Early-onset Alzheimer's Disease.

Aging And Disease

Li, Yu-Sheng YS; Yang, Zhi-Hua ZH; Zhang, Yao Y; Yang, Jing J; Shang, Dan-Dan DD; Zhang, Shu-Yu SY; Wu, Jun J; Ji, Yan Y; Zhao, Lu L; Shi, Chang-He CH; Xu, Yu-Ming YM

Publication Date: 2019-08

Variant appearance in text: PSEN1: 617G>T; G206V

PubMed Link: 31440394

Variant Present in the following documents:

• Main text
• ad-10-4-908.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: G206V

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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Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

Neurobiology Of Aging

Wang, Jen-Chyong JC; Alinaghi, Somayeh S; Tafakhori, Abbas A; Sikora, Elizabeth E; Azcona, Luis J LJ; Karkheiran, Siamak S; Goate, Alison A; Paisán-Ruiz, Coro C; Darvish, Hossein H

Publication Date: 2018-02

Variant appearance in text: PSEN1: Gly206Val

PubMed Link: 29175279

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: G206V

PubMed Link: 26818522

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: Gly206Val

PubMed Link: 25217249

Variant Present in the following documents:

• Main text

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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: Gly206Val

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: G206V

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

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Isoflurane increases neuronal cell death vulnerability by downregulating miR-214.

Plos One

Yan, Hailiang H; Xu, Tao T; Zhao, Hongfeng H; Lee, Kuo-Chieh KC; Wang, Hoau-Yan HY; Zhang, Yan Y

Publication Date: 2013

Variant appearance in text: rs63750082

PubMed Link: 23408966

Variant Present in the following documents:

• Main text
• pone.0055276.pdf

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Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds.

The Journal Of Biological Chemistry

Kretner, Benedikt B; Fukumori, Akio A; Gutsmiedl, Amelie A; Page, Richard M RM; Luebbers, Thomas T; Galley, Guido G; Baumann, Karlheinz K; Haass, Christian C; Steiner, Harald H

Publication Date: 2011-04-29

Variant appearance in text: PS1: G206V

PubMed Link: 21357415

Variant Present in the following documents:

• Main text

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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: G206V

PubMed Link: 20049724

Variant Present in the following documents:

• Main text
• emmm0001-0223.pdf

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