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: 1300_1301delinsTG; Ala434Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: Ala434Cys

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.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: A434C

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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A key role for MAM in mediating mitochondrial dysfunction in Alzheimer disease.

Cell Death & Disease

Area-Gomez, Estela E; de Groof, Ad A; Bonilla, Eduardo E; Montesinos, Jorge J; Tanji, Kurenai K; Boldogh, Istvan I; Pon, Liza L; Schon, Eric A EA

Publication Date: 2018-02-28

Variant appearance in text: PS1: A434C

PubMed Link: 29491396

Variant Present in the following documents:

• Main text
• 41419_2017_Article_215.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: Ala434Cys

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: A434C

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

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Mechanism of intramembrane cleavage of alcadeins by γ-secretase.

Plos One

Piao, Yi Y; Kimura, Ayano A; Urano, Satomi S; Saito, Yuhki Y; Taru, Hidenori H; Yamamoto, Tohru T; Hata, Saori S; Suzuki, Toshiharu T

Publication Date: 2013

Variant appearance in text: PS1: A434C

PubMed Link: 23658629

Variant Present in the following documents:

• Main text
• pone.0062431.pdf

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Mutagenesis mapping of the presenilin 1 calcium leak conductance pore.

The Journal Of Biological Chemistry

Nelson, Omar O; Supnet, Charlene C; Tolia, Alexandra A; Horré, Katrien K; De Strooper, Bart B; Bezprozvanny, Ilya I

Publication Date: 2011-06-24

Variant appearance in text: PS1: A434C

PubMed Link: 21531718

Variant Present in the following documents:

• Main text

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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: A434C

PubMed Link: 21357415

Variant Present in the following documents:

• Main text

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A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity.

The Journal Of Biological Chemistry

Heilig, Elizabeth A EA; Xia, Weiming W; Shen, Jie J; Kelleher, Raymond J RJ

Publication Date: 2010-07-16

Variant appearance in text: PS1: A434C

PubMed Link: 20460383

Variant Present in the following documents:

• Main text

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Alcadein cleavages by amyloid beta-precursor protein (APP) alpha- and gamma-secretases generate small peptides, p3-Alcs, indicating Alzheimer disease-related gamma-secretase dysfunction.

The Journal Of Biological Chemistry

Hata, Saori S; Fujishige, Sayaka S; Araki, Yoichi Y; Kato, Naoko N; Araseki, Masahiko M; Nishimura, Masaki M; Hartmann, Dieter D; Saftig, Paul P; Fahrenholz, Falk F; Taniguchi, Miyako M; Urakami, Katsuya K; Akatsu, Hiroyasu H; Martins, Ralph N RN; Yamamoto, Kazuo K; Maeda, Masahiro M; Yamamoto, Tohru T; Nakaya, Tadashi T; Gandy, Sam S; Suzuki, Toshiharu T

Publication Date: 2009-12-25

Variant appearance in text: PS1: A434C

PubMed Link: 19864413

Variant Present in the following documents:

• Main text

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The C-terminal PAL motif and transmembrane domain 9 of presenilin 1 are involved in the formation of the catalytic pore of the gamma-secretase.

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

Sato, Chihiro C; Takagi, Shizuka S; Tomita, Taisuke T; Iwatsubo, Takeshi T

Publication Date: 2008-06-11

Variant appearance in text: PS1: A434C

PubMed Link: 18550769

Variant Present in the following documents:

• Main text

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