Publications:

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Neural Networks in Autosomal Dominant Alzheimer's Disease: Insights From Functional Magnetic Resonance Imaging Studies.

Frontiers In Aging Neuroscience

Qiu, Qiongqiong Q

Publication Date: 2022

Variant appearance in text: PSEN1: A285V

PubMed Link: 35928996

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• fnagi-14-903269.pdf

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: PS1: A285V

PubMed Link: 34948396

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• ijms-22-13600.pdf

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: PS1: A285V

PubMed Link: 34948396

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• Main text
• ijms-22-13600.pdf

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The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Npj Genomic Medicine

Jiao, Bin B; Liu, Hui H; Guo, Lina L; Xiao, Xuewen X; Liao, Xinxin X; Zhou, Yafang Y; Weng, Ling L; Zhou, Lu L; Wang, Xin X; Jiang, Yaling Y; Yang, Qijie Q; Zhu, Yuan Y; Zhou, Lin L; Zhang, Weiwei W; Wang, Junling J; Yan, Xinxiang X; Li, Jinchen J; Tang, Beisha B; Shen, Lu L

Publication Date: 2021-08-13

Variant appearance in text: PSEN1: 854C>T; A285V

PubMed Link: 34389718

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• Main text
• 41525_2021_Article_235.pdf

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PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease.

Scientific Reports

Kim, Young-Eun YE; Cho, Hanna H; Kim, Hee Jin HJ; Na, Duk L DL; Seo, Sang Won SW; Ki, Chang-Seok CS

Publication Date: 2020-02-26

Variant appearance in text: PSEN1: Ala285Val

PubMed Link: 32103039

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Effects of gene mutation and disease progression on representative neural circuits in familial Alzheimer's disease.

Alzheimer'S Research & Therapy

Quan, Meina M; Zhao, Tan T; Tang, Yi Y; Luo, Ping P; Wang, Wei W; Qin, Qi Q; Li, Tingting T; Wang, Qigeng Q; Fang, Jiliang J; Jia, Jianping J

Publication Date: 2020-01-14

Variant appearance in text: PS1: A285V

PubMed Link: 31937364

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• Main text
• 13195_2019_Article_572.pdf

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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: 854C>T; Ala285Val

PubMed Link: 31557888

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• Main text
• ijms-20-04757.pdf

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Genetic analysis of neurodegenerative diseases in a pathology cohort.

Neurobiology Of Aging

Blauwendraat, Cornelis C; Pletnikova, Olga O; Geiger, Joshua T JT; Murphy, Natalie A NA; Abramzon, Yevgeniya Y; Rudow, Gay G; Mamais, Adamantios A; Sabir, Marya S MS; Crain, Barbara B; Ahmed, Sarah S; Rosenthal, Liana S LS; Bakker, Catherine C CC; Faghri, Faraz F; Chia, Ruth R; Ding, Jinhui J; Dawson, Ted M TM; Pantelyat, Alexander A; Albert, Marilyn S MS; Nalls, Mike A MA; Resnick, Susan M SM; Ferrucci, Luigi L; Cookson, Mark R MR; Hillis, Argye E AE; Troncoso, Juan C JC; Scholz, Sonja W SW

Publication Date: 2019-04

Variant appearance in text: PSEN1: A285V

PubMed Link: 30528841

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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: A285V

PubMed Link: 27930341

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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: Ala285Val

PubMed Link: 27799753

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• Main text
• cia-11-1467.pdf

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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: 854C>T; Ala285Val

PubMed Link: 25694106

Variant Present in the following documents:

• jhg201515x1.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: Ala285Val

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Upregulation of PGC-1α expression by Alzheimer's disease-associated pathway: presenilin 1/amyloid precursor protein (APP)/intracellular domain of APP.

Aging Cell

Robinson, Ari A; Grösgen, Sven S; Mett, Janine J; Zimmer, Valerie C VC; Haupenthal, Viola J VJ; Hundsdörfer, Benjamin B; Stahlmann, Christoph P CP; Slobodskoy, Yulia Y; Müller, Ulrike C UC; Hartmann, Tobias T; Stein, Reuven R; Grimm, Marcus O W MO

Publication Date: 2014-04

Variant appearance in text: PS1: A285V

PubMed Link: 24304563

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• Main text
• acel0013-0263.pdf

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Intracellular APP Domain Regulates Serine-Palmitoyl-CoA Transferase Expression and Is Affected in Alzheimer's Disease.

International Journal Of Alzheimer'S Disease

Grimm, Marcus O W MO; Grösgen, Sven S; Rothhaar, Tatjana L TL; Burg, Verena K VK; Hundsdörfer, Benjamin B; Haupenthal, Viola J VJ; Friess, Petra P; Müller, Ulrike U; Fassbender, Klaus K; Riemenschneider, Matthias M; Grimm, Heike S HS; Hartmann, Tobias T

Publication Date: 2011

Variant appearance in text: PS1: A285V

PubMed Link: 21660213

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• Main text
• IJAD2011-695413.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: A285V

PubMed Link: 21357415

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Three-amino acid spacing of presenilin endoproteolysis suggests a general stepwise cleavage of gamma-secretase-mediated intramembrane proteolysis.

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

Fukumori, Akio A; Fluhrer, Regina R; Steiner, Harald H; Haass, Christian C

Publication Date: 2010-06-09

Variant appearance in text: PS1: A285V

PubMed Link: 20534834

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