PSEN1 c.1154A>C ;(p.D385A)

Variant ID: 14-73683858-A-C

NM_000021.3(PSEN1):c.1154A>C;(p.D385A)

This variant was identified in 80 publications

View GRCh38 version.




Publications:


Enzyme-substrate interface targeting by imidazole-based γ-secretase modulators activates γ-secretase and stabilizes its interaction with APP.

The Embo Journal
Petit, Dieter D; Hitzenberger, Manuel M; Koch, Matthias M; Lismont, Sam S; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Hopf, Carsten C; Zacharias, Martin M; Chávez-Gutiérrez, Lucía L
Publication Date: 2022-11-02

Variant appearance in text: PSEN1: D385A
PubMed Link: 36121025
Variant Present in the following documents:
  • Main text
  • EMBJ-41-e111084.pdf
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A thermodynamic investigation of amyloid precursor protein processing by human γ-secretase.

Communications Biology
Lu, Xiaoli X; Huang, Jing J
Publication Date: 2022-08-18

Variant appearance in text: PS1: D385A
PubMed Link: 35982231
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_3818.pdf
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Side-by-side comparison of Notch- and C83 binding to γ-secretase in a complete membrane model at physiological temperature.

Rsc Advances
Dehury, Budheswar B; Tang, Ning N; Mehra, Rukmankesh R; Blundell, Tom L TL; Kepp, Kasper P KP
Publication Date: 2020-08-21

Variant appearance in text: PS1: D385A
PubMed Link: 35520661
Variant Present in the following documents:
  • Main text
  • RA-010-D0RA04683C.pdf
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Modulation of amyloid precursor protein cleavage by γ-secretase activating protein through phase separation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Jin, Chen C; Wang, Jiaoni J; Wang, Yumeng Y; Jia, Bojun B; Guo, Xuefei X; Yang, Guanghui G; Xu, Peng P; Greengard, Paul P; Zhou, Rui R; Shi, Yigong Y
Publication Date: 2022-03-22

Variant appearance in text: PS1: D385A
PubMed Link: 35298330
Variant Present in the following documents:
  • pnas.202122292.pdf
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Preferential Involvement of BRCA1/BARD1, Not Tip60/Fe65, in DNA Double-Strand Break Repair in Presenilin-1 P117L Alzheimer Models.

Neural Plasticity
Authiat, Marcella M MM; Gruz-Gibelli, Emmanuelle E; Colas, Julien J; Bianchi, Estelle E; Garcia-Arauzo, Marta M; Marin, Pascale P; Herrmann, François R FR; Savioz, Armand A
Publication Date: 2022

Variant appearance in text: PS1: D385A
PubMed Link: 35237315
Variant Present in the following documents:
  • NP2022-3172861.pdf
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Presenilin 1 Regulates Membrane Homeostatic Pathways that are Dysregulated in Alzheimer's Disease.

Journal Of Alzheimer'S Disease : Jad
Deaton, Carol A CA; Johnson, Gail V W GVW
Publication Date: 2020

Variant appearance in text: PS1: D385A
PubMed Link: 32804090
Variant Present in the following documents:
  • Main text
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Mechanisms of γ-Secretase Activation and Substrate Processing.

Acs Central Science
Bhattarai, Apurba A; Devkota, Sujan S; Bhattarai, Sanjay S; Wolfe, Michael S MS; Miao, Yinglong Y
Publication Date: 2020-06-24

Variant appearance in text: PS1: D385A
PubMed Link: 32607444
Variant Present in the following documents:
  • Main text
  • oc0c00296.pdf
  • oc0c00296_si_001.pdf
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Individual and combined presenilin 1 and 2 knockouts reveal that both have highly overlapping functions in HEK293T cells.

The Journal Of Biological Chemistry
Lessard, Christian B CB; Rodriguez, Edgardo E; Ladd, Thomas B TB; Minter, Lisa M LM; Osborne, Barbara A BA; Miele, Lucio L; Golde, Todd E TE; Ran, Yong Y
Publication Date: 2019-07-19

Variant appearance in text: PS1: D385A
PubMed Link: 31167792
Variant Present in the following documents:
  • Main text
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APP-Mediated Signaling Prevents Memory Decline in Alzheimer's Disease Mouse Model.

Cell Reports
Deyts, Carole C; Clutter, Mary M; Pierce, Nicholas N; Chakrabarty, Paramita P; Ladd, Thomas B TB; Goddi, Anna A; Rosario, Awilda M AM; Cruz, Pedro P; Vetrivel, Kulandaivelu K; Wagner, Steven L SL; Thinakaran, Gopal G; Golde, Todd E TE; Parent, Angèle T AT
Publication Date: 2019-04-30

Variant appearance in text: PSEN1: D385A
PubMed Link: 31042463
Variant Present in the following documents:
  • Main text
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Novel interaction between Alzheimer's disease-related protein presenilin 1 and glutamate transporter 1.

Scientific Reports
Zoltowska, Katarzyna Marta KM; Maesako, Masato M; Meier, Joshua J; Berezovska, Oksana O
Publication Date: 2018-06-07

Variant appearance in text: PS1: D385A
PubMed Link: 29880815
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_26888.pdf
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The presenilin loop region is essential for glycogen synthase kinase 3 β (GSK3β) mediated functions on motor proteins during axonal transport.

Human Molecular Genetics
Banerjee, Rupkatha R; Rudloff, Zoe Z; Naylor, Crystal C; Yu, Michael C MC; Gunawardena, Shermali S
Publication Date: 2018-09-01

Variant appearance in text: PS1: D385A
PubMed Link: 29790963
Variant Present in the following documents:
  • Main text
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Intracellular trafficking of TREM2 is regulated by presenilin 1.

Experimental & Molecular Medicine
Zhao, Yingjun Y; Li, Xiaoguang X; Huang, Timothy T; Jiang, Lu-Lin LL; Tan, Zhenqiu Z; Zhang, Muxian M; Cheng, Irene Han-Juo IH; Wang, Xin X; Bu, Guojun G; Zhang, Yun-Wu YW; Wang, Qi Q; Xu, Huaxi H
Publication Date: 2017-12-01

Variant appearance in text: PS1: D385A
PubMed Link: 29611543
Variant Present in the following documents:
  • Main text
  • emm2017200a.pdf
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Influence of solubilization and AD-mutations on stability and structure of human presenilins.

Scientific Reports
Yang, Ge G; Yu, Kun K; Kaitatzi, Christina-Symina CS; Singh, Abhilasha A; Labahn, Jörg J
Publication Date: 2017-12-21

Variant appearance in text: PS1: D385A
PubMed Link: 29269939
Variant Present in the following documents:
  • Main text
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Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Servián-Morilla, Emilia E; Robles-Lanuza, Estefanía E; Sánchez-Hidalgo, Ana C AC; Camacho-Garcia, Rafael J RJ; Paez-Gomez, Juan A JA; Mavillard, Fabiola F; Saura, Carlos A CA; Martinez-Mir, Amalia A; Scholl, Francisco G FG
Publication Date: 2018-01-24

Variant appearance in text: PS1: D385A
PubMed Link: 29229705
Variant Present in the following documents:
  • Main text
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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: D385A
PubMed Link: 29137240
Variant Present in the following documents:
  • Main text
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Dominant negative effect of the loss-of-function γ-secretase mutants on the wild-type enzyme through heterooligomerization.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhou, Rui R; Yang, Guanghui G; Shi, Yigong Y
Publication Date: 2017-11-28

Variant appearance in text: PS1: D385A
PubMed Link: 29078389
Variant Present in the following documents:
  • Main text
  • pnas.201713605.pdf
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Pen-2 and Presenilin are Sufficient to Catalyze Notch Processing.

Journal Of Alzheimer'S Disease : Jad
Hu, Chen C; Xu, Junjie J; Zeng, Linlin L; Li, Ting T; Cui, Mei-Zhen MZ; Xu, Xuemin X
Publication Date: 2017

Variant appearance in text: PS1: D385A
PubMed Link: 28234257
Variant Present in the following documents:
  • Main text
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Interactions of Mitochondria/Metabolism and Calcium Regulation in Alzheimer's Disease: A Calcinist Point of View.

Neurochemical Research
Gibson, Gary E GE; Thakkar, Ankita A
Publication Date: 2017-06

Variant appearance in text: PS1: D385A
PubMed Link: 28181072
Variant Present in the following documents:
  • Main text
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Mapping the Binding Site of BMS-708163 on γ-Secretase with Cleavable Photoprobes.

Cell Chemical Biology
Gertsik, Natalya N; Am Ende, Christopher W CW; Geoghegan, Kieran F KF; Nguyen, Chuong C; Mukherjee, Paramita P; Mente, Scot S; Seneviratne, Uthpala U; Johnson, Douglas S DS; Li, Yue-Ming YM
Publication Date: 2017-01-19

Variant appearance in text: PS1: D385A
PubMed Link: 28065657
Variant Present in the following documents:
  • Main text
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Familial Alzheimer's disease-associated presenilin 1 mutants promote γ-secretase cleavage of STIM1 to impair store-operated Ca2+ entry.

Science Signaling
Tong, Benjamin Chun-Kit BC; Lee, Claire Shuk-Kwan CS; Cheng, Wing-Hei WH; Lai, Kwok-On KO; Foskett, J Kevin JK; Cheung, King-Ho KH
Publication Date: 2016-09-06

Variant appearance in text: PS1: D385A
PubMed Link: 27601731
Variant Present in the following documents:
  • Main text
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Alzheimer's Disease and Hippocampal Adult Neurogenesis; Exploring Shared Mechanisms.

Frontiers In Neuroscience
Hollands, Carolyn C; Bartolotti, Nancy N; Lazarov, Orly O
Publication Date: 2016

Variant appearance in text: PS1: D385A
PubMed Link: 27199641
Variant Present in the following documents:
  • fnins-10-00178.pdf
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Loss of presenilin function is associated with a selective gain of APP function.

Elife
Deyts, Carole C; Clutter, Mary M; Herrera, Stacy S; Jovanovic, Natalia N; Goddi, Anna A; Parent, Angèle T AT
Publication Date: 2016-05-19

Variant appearance in text: PS1: D385A
PubMed Link: 27196744
Variant Present in the following documents:
  • Main text
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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: D385A
PubMed Link: 27014058
Variant Present in the following documents:
  • Main text
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Generation and deposition of Aβ43 by the virtually inactive presenilin-1 L435F mutant contradicts the presenilin loss-of-function hypothesis of Alzheimer's disease.

Embo Molecular Medicine
Kretner, Benedikt B; Trambauer, Johannes J; Fukumori, Akio A; Mielke, Janina J; Kuhn, Peer-Hendrik PH; Kremmer, Elisabeth E; Giese, Armin A; Lichtenthaler, Stefan F SF; Haass, Christian C; Arzberger, Thomas T; Steiner, Harald H
Publication Date: 2016-05

Variant appearance in text: PS1: D385A
PubMed Link: 26988102
Variant Present in the following documents:
  • Main text
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Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency.

Cell Reports
Reddy, Kavya K; Cusack, Corey L CL; Nnah, Israel C IC; Khayati, Khoosheh K; Saqcena, Chaitali C; Huynh, Tuong B TB; Noggle, Scott A SA; Ballabio, Andrea A; Dobrowolski, Radek R
Publication Date: 2016-03-08

Variant appearance in text: PS1: D385A
PubMed Link: 26923592
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
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Suppressor Mutations for Presenilin 1 Familial Alzheimer Disease Mutants Modulate γ-Secretase Activities.

The Journal Of Biological Chemistry
Futai, Eugene E; Osawa, Satoko S; Cai, Tetsuo T; Fujisawa, Tomoya T; Ishiura, Shoichi S; Tomita, Taisuke T
Publication Date: 2016-01-01

Variant appearance in text: PS1: D385A
PubMed Link: 26559975
Variant Present in the following documents:
  • Main text
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γ-Secretase directly sheds the survival receptor BCMA from plasma cells.

Nature Communications
Laurent, Sarah A SA; Hoffmann, Franziska S FS; Kuhn, Peer-Hendrik PH; Cheng, Qingyu Q; Chu, Yuanyuan Y; Schmidt-Supprian, Marc M; Hauck, Stefanie M SM; Schuh, Elisabeth E; Krumbholz, Markus M; Rübsamen, Heike H; Wanngren, Johanna J; Khademi, Mohsen M; Olsson, Tomas T; Alexander, Tobias T; Hiepe, Falk F; Pfister, Hans-Walter HW; Weber, Frank F; Jenne, Dieter D; Wekerle, Hartmut H; Hohlfeld, Reinhard R; Lichtenthaler, Stefan F SF; Meinl, Edgar E
Publication Date: 2015-06-11

Variant appearance in text: PS1: D385A
PubMed Link: 26065893
Variant Present in the following documents:
  • Main text
  • ncomms8333.pdf
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Cellular FLICE-like Inhibitory Protein (c-FLIP) and PS1-associated Protein (PSAP) Mediate Presenilin 1-induced γ-Secretase-dependent and -independent Apoptosis, Respectively.

The Journal Of Biological Chemistry
Zeng, Linlin L; Hu, Chen C; Zhang, Fuqiang F; Xu, Daniel C DC; Cui, Mei-Zhen MZ; Xu, Xuemin X
Publication Date: 2015-07-24

Variant appearance in text: PS1: D385A
PubMed Link: 26025363
Variant Present in the following documents:
  • Main text
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Presenilin transmembrane domain 8 conserved AXXXAXXXG motifs are required for the activity of the γ-secretase complex.

The Journal Of Biological Chemistry
Marinangeli, Claudia C; Tasiaux, Bernadette B; Opsomer, Rémi R; Hage, Salim S; Sodero, Alejandro O AO; Dewachter, Ilse I; Octave, Jean Noël JN; Smith, Steven O SO; Constantinescu, Stefan N SN; Kienlen-Campard, Pascal P
Publication Date: 2015-03-13

Variant appearance in text: PS1: D385A
PubMed Link: 25614624
Variant Present in the following documents:
  • Main text
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An ancestral non-proteolytic role for presenilin proteins in multicellular development of the social amoeba Dictyostelium discoideum.

Journal Of Cell Science
Ludtmann, Marthe H R MH; Otto, Grant P GP; Schilde, Christina C; Chen, Zhi-Hui ZH; Allan, Claire Y CY; Brace, Selina S; Beesley, Philip W PW; Kimmel, Alan R AR; Fisher, Paul P; Killick, Richard R; Williams, Robin S B RS
Publication Date: 2014-04-01

Variant appearance in text: PSEN1: D385A
PubMed Link: 24463814
Variant Present in the following documents:
  • Main text
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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: D385A
PubMed Link: 23658629
Variant Present in the following documents:
  • Main text
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γ-Secretase modulator (GSM) photoaffinity probes reveal distinct allosteric binding sites on presenilin.

The Journal Of Biological Chemistry
Pozdnyakov, Nikolay N; Murrey, Heather E HE; Crump, Christina J CJ; Pettersson, Martin M; Ballard, T Eric TE; Am Ende, Christopher W CW; Ahn, Kwangwook K; Li, Yue-Ming YM; Bales, Kelly R KR; Johnson, Douglas S DS
Publication Date: 2013-04-05

Variant appearance in text: PS1: D385A
PubMed Link: 23396974
Variant Present in the following documents:
  • Main text
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Differential regulation of amyloid precursor protein/presenilin 1 interaction during Aβ40/42 [corrected] production detected using fusion constructs.

Plos One
Sato, Naoyuki N; Okochi, Masayasu M; Shinohara, Mitsuru M; Thinakaran, Gopal G; Takeda, Shuko S; Fukumori, Akio A; Shinohara-Noma, Motoko M; Mori-Ueda, Mari M; Hamada, Hizuki H; Takeda, Masatoshi M; Rakugi, Hiromi H; Morishita, Ryuichi R
Publication Date: 2012

Variant appearance in text: PS1: D385A
PubMed Link: 23152781
Variant Present in the following documents:
  • Main text
  • pone.0048551.pdf
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Presenilin deficiency or lysosomal inhibition enhances Wnt signaling through relocalization of GSK3 to the late-endosomal compartment.

Cell Reports
Dobrowolski, Radek R; Vick, Philipp P; Ploper, Diego D; Gumper, Iwona I; Snitkin, Harriet H; Sabatini, David D DD; De Robertis, Edward M EM
Publication Date: 2012-11-29

Variant appearance in text: PS1: D385A
PubMed Link: 23122960
Variant Present in the following documents:
  • Main text
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Hyperphosphorylation of Tau induced by naturally secreted amyloid-β at nanomolar concentrations is modulated by insulin-dependent Akt-GSK3β signaling pathway.

The Journal Of Biological Chemistry
Tokutake, Takayoshi T; Kasuga, Kensaku K; Yajima, Ryuji R; Sekine, Yumi Y; Tezuka, Toshiyuki T; Nishizawa, Masatoyo M; Ikeuchi, Takeshi T
Publication Date: 2012-10-12

Variant appearance in text: PS1: D385A
PubMed Link: 22910909
Variant Present in the following documents:
  • Main text
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Upregulated function of mitochondria-associated ER membranes in Alzheimer disease.

The Embo Journal
Area-Gomez, Estela E; Del Carmen Lara Castillo, Maria M; Tambini, Marc D MD; Guardia-Laguarta, Cristina C; de Groof, Ad J C AJ; Madra, Moneek M; Ikenouchi, Junichi J; Umeda, Masato M; Bird, Thomas D TD; Sturley, Stephen L SL; Schon, Eric A EA
Publication Date: 2012-11-05

Variant appearance in text: PS1: D385A
PubMed Link: 22892566
Variant Present in the following documents:
  • Main text
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Alzheimer's disease-linked mutations in presenilin-1 result in a drastic loss of activity in purified γ-secretase complexes.

Plos One
Cacquevel, Matthias M; Aeschbach, Lorène L; Houacine, Jemila J; Fraering, Patrick C PC
Publication Date: 2012

Variant appearance in text: PS1: D385A
PubMed Link: 22529981
Variant Present in the following documents:
  • Main text
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Novel GαS-protein signaling associated with membrane-tethered amyloid precursor protein intracellular domain.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Deyts, Carole C; Vetrivel, Kulandaivelu S KS; Das, Shibandri S; Shepherd, Yumiko M YM; Dupré, Denis J DJ; Thinakaran, Gopal G; Parent, Angèle T AT
Publication Date: 2012-02-01

Variant appearance in text: PS1: D385A
PubMed Link: 22302812
Variant Present in the following documents:
  • Main text
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Target of γ-secretase modulators, presenilin marks the spot.

The Embo Journal
Crump, Christina J CJ; Johnson, Douglas S DS; Li, Yue-Ming YM
Publication Date: 2011-11-30

Variant appearance in text: PS1: D385A
PubMed Link: 22126818
Variant Present in the following documents:
  • Main text
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Phenylpiperidine-type γ-secretase modulators target the transmembrane domain 1 of presenilin 1.

The Embo Journal
Ohki, Yu Y; Higo, Takuya T; Uemura, Kengo K; Shimada, Naoaki N; Osawa, Satoko S; Berezovska, Oksana O; Yokoshima, Satoshi S; Fukuyama, Tohru T; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2011-10-14

Variant appearance in text: PS1: D385A
PubMed Link: 22002539
Variant Present in the following documents:
  • Main text
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Presenilin regulates insulin signaling via a gamma-secretase-independent mechanism.

The Journal Of Biological Chemistry
Maesako, Masato M; Uemura, Kengo K; Kuzuya, Akira A; Sasaki, Kazuki K; Asada, Megumi M; Watanabe, Kiwamu K; Ando, Koichi K; Kubota, Masakazu M; Kihara, Takeshi T; Kinoshita, Ayae A
Publication Date: 2011-07-15

Variant appearance in text: PS1: D385A
PubMed Link: 21622565
Variant Present in the following documents:
  • Main text
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Presenilin/γ-secretase regulates neurexin processing at synapses.

Plos One
Saura, Carlos A CA; Servián-Morilla, Emilia E; Scholl, Francisco G FG
Publication Date: 2011-04-29

Variant appearance in text: PS1: D385A
PubMed Link: 21559374
Variant Present in the following documents:
  • Main text
  • pone.0019430.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: D385A
PubMed Link: 21531718
Variant Present in the following documents:
  • Main text
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Presenilins promote the cellular uptake of copper and zinc and maintain copper chaperone of SOD1-dependent copper/zinc superoxide dismutase activity.

The Journal Of Biological Chemistry
Greenough, Mark A MA; Volitakis, Irene I; Li, Qiao-Xin QX; Laughton, Katrina K; Evin, Genevieve G; Ho, Michael M; Dalziel, Andrew H AH; Camakaris, James J; Bush, Ashley I AI
Publication Date: 2011-03-18

Variant appearance in text: PS1: D385A
PubMed Link: 21239495
Variant Present in the following documents:
  • Main text
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Activation and intrinsic gamma-secretase activity of presenilin 1.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ahn, Kwangwook K; Shelton, Christopher C CC; Tian, Yuan Y; Zhang, Xulun X; Gilchrist, M Lane ML; Sisodia, Sangram S SS; Li, Yue-Ming YM
Publication Date: 2010-12-14

Variant appearance in text: PS1: D385A
PubMed Link: 21115843
Variant Present in the following documents:
  • Main text
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Role of presenilins in neuronal calcium homeostasis.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Zhang, Hua H; Sun, Suya S; Herreman, An A; De Strooper, Bart B; Bezprozvanny, Ilya I
Publication Date: 2010-06-23

Variant appearance in text: PS1: D385A
PubMed Link: 20573903
Variant Present in the following documents:
  • Main text
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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: D385A
PubMed Link: 20534834
Variant Present in the following documents:
  • Main text
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Presenilin 1 mutants impair the self-renewal and differentiation of adult murine subventricular zone-neuronal progenitors via cell-autonomous mechanisms involving notch signaling.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Veeraraghavalu, Karthikeyan K; Choi, Se Hoon SH; Zhang, Xiaoqiong X; Sisodia, Sangram S SS
Publication Date: 2010-05-19

Variant appearance in text: PS1: D385A
PubMed Link: 20484632
Variant Present in the following documents:
  • Main text
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Functional analysis of the transmembrane domains of presenilin 1: participation of transmembrane domains 2 and 6 in the formation of initial substrate-binding site of gamma-secretase.

The Journal Of Biological Chemistry
Watanabe, Naoto N; Image Image, Image Image II; Takagi, Shizuka S; Image Image, Image Image II; Tominaga, Aya A; Image Image, Image I; Tomita, Taisuke T; Image Image, Image Image II; Iwatsubo, Takeshi T; Image Image, Image I
Publication Date: 2010-06-25

Variant appearance in text: PS1: D385A
PubMed Link: 20418378
Variant Present in the following documents:
  • Main text
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Gain-of-function enhancement of IP3 receptor modal gating by familial Alzheimer's disease-linked presenilin mutants in human cells and mouse neurons.

Science Signaling
Cheung, King-Ho KH; Mei, Lijuan L; Mak, Don-On Daniel DO; Hayashi, Ikuo I; Iwatsubo, Takeshi T; Kang, David E DE; Foskett, J Kevin JK
Publication Date: 2010-03-23

Variant appearance in text: PS1: D385A
PubMed Link: 20332427
Variant Present in the following documents:
  • Main text
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The large hydrophilic loop of presenilin 1 is important for regulating gamma-secretase complex assembly and dictating the amyloid beta peptide (Abeta) Profile without affecting Notch processing.

The Journal Of Biological Chemistry
Wanngren, Johanna J; Frånberg, Jenny J; Svensson, Annelie I AI; Laudon, Hanna H; Olsson, Fredrik F; Winblad, Bengt B; Liu, Frank F; Näslund, Jan J; Lundkvist, Johan J; Karlström, Helena H
Publication Date: 2010-03-19

Variant appearance in text: PS1: D385A
PubMed Link: 20106965
Variant Present in the following documents:
  • Main text
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p53-dependent control of transactivation of the Pen2 promoter by presenilins.

Journal Of Cell Science
Dunys, Julie J; Sevalle, Jean J; Giaime, Emilie E; Pardossi-Piquard, Raphaëlle R; Vitek, Michael P MP; Renbaum, Paul P; Levy-Lahad, Ephrat E; Zhang, Yun-wu YW; Xu, Huaxi H; Checler, Frédéric F; da Costa, Cristine Alves CA
Publication Date: 2009-11-01

Variant appearance in text: PS1: D385A
PubMed Link: 19889971
Variant Present in the following documents:
  • Main text
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Structural and Functional Determinants of gamma-Secretase, an Intramembrane Protease Implicated in Alzheimer's Disease.

Current Genomics
Fraering, Patrick C PC
Publication Date: 2007-12

Variant appearance in text: PS1: D385A
PubMed Link: 19415127
Variant Present in the following documents:
  • Main text
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Synaptic activity prompts gamma-secretase-mediated cleavage of EphA4 and dendritic spine formation.

The Journal Of Cell Biology
Inoue, Eiji E; Deguchi-Tawarada, Maki M; Togawa, Aki A; Matsui, Chiyuki C; Arita, Kohei K; Katahira-Tayama, Sayaka S; Sato, Toshitaka T; Yamauchi, Emiko E; Oda, Yoshiya Y; Takai, Yoshimi Y
Publication Date: 2009-05-04

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PubMed Link: 19414612
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APH1 polar transmembrane residues regulate the assembly and activity of presenilin complexes.

The Journal Of Biological Chemistry
Pardossi-Piquard, Raphaëlle R; Yang, Seung-Pil SP; Kanemoto, Soshi S; Gu, Yongjun Y; Chen, Fusheng F; Böhm, Christopher C; Sevalle, Jean J; Li, Tong T; Wong, Philip C PC; Checler, Frédéric F; Schmitt-Ulms, Gerold G; St George-Hyslop, Peter P; Fraser, Paul E PE
Publication Date: 2009-06-12

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PubMed Link: 19369254
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Nicastrin is dispensable for gamma-secretase protease activity in the presence of specific presenilin mutations.

The Journal Of Biological Chemistry
Futai, Eugene E; Yagishita, Sosuke S; Ishiura, Shoichi S
Publication Date: 2009-05-08

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PubMed Link: 19254953
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ADAM10, the rate-limiting protease of regulated intramembrane proteolysis of Notch and other proteins, is processed by ADAMS-9, ADAMS-15, and the gamma-secretase.

The Journal Of Biological Chemistry
Tousseyn, Thomas T; Thathiah, Amantha A; Jorissen, Ellen E; Raemaekers, Tim T; Konietzko, Uwe U; Reiss, Karina K; Maes, Elke E; Snellinx, An A; Serneels, Lutgarde L; Nyabi, Omar O; Annaert, Wim W; Saftig, Paul P; Hartmann, Dieter D; De Strooper, Bart B
Publication Date: 2009-04-24

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PubMed Link: 19213735
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Mutant presenilin 1 increases the expression and activity of BACE1.

The Journal Of Biological Chemistry
Giliberto, Luca L; Borghi, Roberta R; Piccini, Alessandra A; Mangerini, Rosa R; Sorbi, Sandro S; Cirmena, Gabriella G; Garuti, Anna A; Ghetti, Bernardino B; Tagliavini, Fabrizio F; Mughal, Mohamed R MR; Mattson, Mark P MP; Zhu, Xiongwei X; Wang, Xinglong X; Guglielmotto, Michela M; Tamagno, Elena E; Tabaton, Massimo M
Publication Date: 2009-04-03

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PubMed Link: 19196715
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Presenilin 1 affects focal adhesion site formation and cell force generation via c-Src transcriptional and posttranslational regulation.

The Journal Of Biological Chemistry
Waschbüsch, Dieter D; Born, Simone S; Niediek, Verena V; Kirchgessner, Norbert N; Tamboli, Irfan Y IY; Walter, Jochen J; Merkel, Rudolf R; Hoffmann, Bernd B
Publication Date: 2009-04-10

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PubMed Link: 19176482
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Metalloproteinase- and gamma-secretase-mediated cleavage of protein-tyrosine phosphatase receptor type Z.

The Journal Of Biological Chemistry
Chow, Jeremy Pak Hong JP; Fujikawa, Akihiro A; Shimizu, Hidetada H; Suzuki, Ryoko R; Noda, Masaharu M
Publication Date: 2008-11-07

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PubMed Link: 18713734
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Evidence that gamma-secretase mediates oxidative stress-induced beta-secretase expression in Alzheimer's disease.

Neurobiology Of Aging
Jo, Dong-Gyu DG; Arumugam, Thiruma V TV; Woo, Ha-Na HN; Park, Jong-Sung JS; Tang, Sung-Chun SC; Mughal, Mohamed M; Hyun, Dong-Hoon DH; Park, Jun-Hyung JH; Choi, Yun-Hyung YH; Gwon, A-Ryeong AR; Camandola, Simonetta S; Cheng, Aiwu A; Cai, Huaibin H; Song, Weihong W; Markesbery, William R WR; Mattson, Mark P MP
Publication Date: 2010-06

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PubMed Link: 18687504
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ADAM proteases: ligand processing and modulation of the Notch pathway.

Cellular And Molecular Life Sciences : Cmls
Zolkiewska, A A
Publication Date: 2008-07

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PubMed Link: 18344021
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Biogenesis of gamma-secretase early in the secretory pathway.

The Journal Of Cell Biology
Kim, Jinoh J; Kleizen, Bertrand B; Choy, Regina R; Thinakaran, Gopal G; Sisodia, Sangram S SS; Schekman, Randy W RW
Publication Date: 2007-12-03

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PubMed Link: 18056412
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Impairments in fast axonal transport and motor neuron deficits in transgenic mice expressing familial Alzheimer's disease-linked mutant presenilin 1.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Lazarov, Orly O; Morfini, Gerardo A GA; Pigino, Gustavo G; Gadadhar, Archana A; Chen, Xiangjun X; Robinson, John J; Ho, Hanson H; Brady, Scott T ST; Sisodia, Sangram S SS
Publication Date: 2007-06-27

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PubMed Link: 17596450
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Presenilins regulate the cellular level of the tumor suppressor PTEN.

Neurobiology Of Aging
Zhang, Han H; Liu, Runzhong R; Wang, Ruishan R; Hong, Shuigen S; Xu, Huaxi H; Zhang, Yun-wu YW
Publication Date: 2008-05

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PubMed Link: 17222949
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Presenilin/gamma-secretase and alpha-secretase-like peptidases cleave human MHC Class I proteins.

The Biochemical Journal
Carey, Bryce W BW; Kim, Doo Y DY; Kovacs, Dora M DM
Publication Date: 2007-01-01

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PubMed Link: 17150042
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The GxGD motif of presenilin contributes to catalytic function and substrate identification of gamma-secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Yamasaki, Aya A; Eimer, Stefan S; Okochi, Masayasu M; Smialowska, Agata A; Kaether, Christoph C; Baumeister, Ralf R; Haass, Christian C; Steiner, Harald H
Publication Date: 2006-04-05

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PubMed Link: 16597736
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Spatial segregation of gamma-secretase and substrates in distinct membrane domains.

The Journal Of Biological Chemistry
Vetrivel, Kulandaivelu S KS; Cheng, Haipeng H; Kim, Seong-Hun SH; Chen, Ying Y; Barnes, Natalie Y NY; Parent, Angèle T AT; Sisodia, Sangram S SS; Thinakaran, Gopal G
Publication Date: 2005-07-08

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PubMed Link: 15886206
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Familial Alzheimer's disease presenilin 1 mutations cause alterations in the conformation of presenilin and interactions with amyloid precursor protein.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Berezovska, Oksana O; Lleo, Alberto A; Herl, Lauren D LD; Frosch, Matthew P MP; Stern, Edward A EA; Bacskai, Brian J BJ; Hyman, Bradley T BT
Publication Date: 2005-03-16

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PubMed Link: 15772361
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The Caenorhabditis elegans IMPAS gene, imp-2, is essential for development and is functionally distinct from related presenilins.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Grigorenko, Anastasia P AP; Moliaka, Yuri K YK; Soto, Martha C MC; Mello, Craig C CC; Rogaev, Evgeny I EI
Publication Date: 2004-10-12

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PubMed Link: 15469912
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