PSEN1 c.770A>C ;(p.D257A)

Variant ID: 14-73664739-A-C

NM_000021.3(PSEN1):c.770A>C;(p.D257A)

This variant was identified in 82 publications

View GRCh38 version.




Publications:


PS1 Affects the Pathology of Alzheimer's Disease by Regulating BACE1 Distribution in the ER and BACE1 Maturation in the Golgi Apparatus.

International Journal Of Molecular Sciences
Li, Nuomin N; Qiu, Yunjie Y; Wang, Hao H; Zhao, Juan J; Qing, Hong H
Publication Date: 2022-12-18

Variant appearance in text: PS1: D257A
PubMed Link: 36555791
Variant Present in the following documents:
  • Main text
  • ijms-23-16151.pdf
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Calcium Signaling Regulated by Cellular Membrane Systems and Calcium Homeostasis Perturbed in Alzheimer's Disease.

Frontiers In Cell And Developmental Biology
Huang, Dong-Xu DX; Yu, Xin X; Yu, Wen-Jun WJ; Zhang, Xin-Min XM; Liu, Chang C; Liu, Hong-Ping HP; Sun, Yue Y; Jiang, Zi-Ping ZP
Publication Date: 2022

Variant appearance in text: PSEN1: D257A
PubMed Link: 35281104
Variant Present in the following documents:
  • Main text
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IP3R-driven increases in mitochondrial Ca2+ promote neuronal death in NPC disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Tiscione, Scott A SA; Casas, Maria M; Horvath, Jonathan D JD; Lam, Vincent V; Hino, Keiko K; Ory, Daniel S DS; Santana, L Fernando LF; Simó, Sergi S; Dixon, Rose E RE; Dickson, Eamonn J EJ
Publication Date: 2021-10-05

Variant appearance in text: PS1: D257A
PubMed Link: 34580197
Variant Present in the following documents:
  • Main text
  • pnas.202110629.pdf
  • pnas.2110629118.sapp.pdf
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Mitochondriopathies as a Clue to Systemic Disorders-Analytical Tools and Mitigating Measures in Context of Predictive, Preventive, and Personalized (3P) Medicine.

International Journal Of Molecular Sciences
Liskova, Alena A; Samec, Marek M; Koklesova, Lenka L; Kudela, Erik E; Kubatka, Peter P; Golubnitschaja, Olga O
Publication Date: 2021-02-18

Variant appearance in text: PSEN1: D257A
PubMed Link: 33670490
Variant Present in the following documents:
  • Main text
  • ijms-22-02007.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: D257A
PubMed Link: 32804090
Variant Present in the following documents:
  • Main text
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Importance of γ-secretase in the regulation of liver X receptor and cellular lipid metabolism.

Life Science Alliance
Gutierrez, Esteban E; Lütjohann, Dieter D; Kerksiek, Anja A; Fabiano, Marietta M; Oikawa, Naoto N; Kuerschner, Lars L; Thiele, Christoph C; Walter, Jochen J
Publication Date: 2020-06

Variant appearance in text: PS1: D257A
PubMed Link: 32354700
Variant Present in the following documents:
  • Main text
  • LSA-2019-00521.pdf
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Dysfunctional Mitochondria and Mitophagy as Drivers of Alzheimer's Disease Pathogenesis.

Frontiers In Aging Neuroscience
Chakravorty, Anushka A; Jetto, Cuckoo Teresa CT; Manjithaya, Ravi R
Publication Date: 2019

Variant appearance in text: PS1: D257A
PubMed Link: 31824296
Variant Present in the following documents:
  • Main text
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Disease-associated mutations in Niemann-Pick type C1 alter ER calcium signaling and neuronal plasticity.

The Journal Of Cell Biology
Tiscione, Scott A SA; Vivas, Oscar O; Ginsburg, Kenneth S KS; Bers, Donald M DM; Ory, Daniel S DS; Santana, Luis F LF; Dixon, Rose E RE; Dickson, Eamonn J EJ
Publication Date: 2019-12-02

Variant appearance in text: PSEN1: D257A
PubMed Link: 31601621
Variant Present in the following documents:
  • Main text
  • JCB_201903018_review_history.pdf
  • JCB_201903018_sm.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: D257A
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
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Mitochondrial dysfunction in Alzheimer's disease: Role in pathogenesis and novel therapeutic opportunities.

British Journal Of Pharmacology
Perez Ortiz, Judit M JM; Swerdlow, Russell H RH
Publication Date: 2019-09

Variant appearance in text: PSEN1: D257A
PubMed Link: 30675901
Variant Present in the following documents:
  • Main text
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Presenilin mutations deregulate mitochondrial Ca2+ homeostasis and metabolic activity causing neurodegeneration in Caenorhabditis elegans.

Elife
Sarasija, Shaarika S; Laboy, Jocelyn T JT; Ashkavand, Zahra Z; Bonner, Jennifer J; Tang, Yi Y; Norman, Kenneth R KR
Publication Date: 2018-07-10

Variant appearance in text: PSEN1: D257A
PubMed Link: 29989545
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: D257A
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: D257A
PubMed Link: 29790963
Variant Present in the following documents:
  • Main text
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Dominant negative mechanism of Presenilin-1 mutations in FAD.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Watanabe, Hirotaka H; Shen, Jie J
Publication Date: 2017-11-28

Variant appearance in text: PS1: D257A
PubMed Link: 29142009
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: D257A
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: D257A
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: D257A
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: D257A
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: D257A
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: D257A
PubMed Link: 27601731
Variant Present in the following documents:
  • Main text
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Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.

Neuron
Xia, Dan D; Kelleher, Raymond J RJ; Shen, Jie J
Publication Date: 2016-04-20

Variant appearance in text: PS1: D257A
PubMed Link: 27100200
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: D257A
PubMed Link: 27014058
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: D257A
PubMed Link: 26923592
Variant Present in the following documents:
  • Main text
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Mitochondrial Biology and Neurological Diseases.

Current Neuropharmacology
Arun, Siddharth S; Liu, Lei L; Donmez, Gizem G
Publication Date: 2016

Variant appearance in text: PSEN1: D257A
PubMed Link: 26903445
Variant Present in the following documents:
  • Main text
  • CN-14-143.pdf
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γ-Secretase Activity Is Required for Regulated Intramembrane Proteolysis of Tumor Necrosis Factor (TNF) Receptor 1 and TNF-mediated Pro-apoptotic Signaling.

The Journal Of Biological Chemistry
Chhibber-Goel, Jyoti J; Coleman-Vaughan, Caroline C; Agrawal, Vishal V; Sawhney, Neha N; Hickey, Emer E; Powell, James C JC; McCarthy, Justin V JV
Publication Date: 2016-03-11

Variant appearance in text: PS1: D257A
PubMed Link: 26755728
Variant Present in the following documents:
  • Main text
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Alzheimer's disease-causing proline substitutions lead to presenilin 1 aggregation and malfunction.

The Embo Journal
Ben-Gedalya, Tziona T; Moll, Lorna L; Bejerano-Sagie, Michal M; Frere, Samuel S; Cabral, Wayne A WA; Friedmann-Morvinski, Dinorah D; Slutsky, Inna I; Burstyn-Cohen, Tal T; Marini, Joan C JC; Cohen, Ehud E
Publication Date: 2015-11-12

Variant appearance in text: PS1: D257A
PubMed Link: 26438723
Variant Present in the following documents:
  • Main text
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MitoRCA-seq reveals unbalanced cytocine to thymine transition in Polg mutant mice.

Scientific Reports
Ni, Ting T; Wei, Gang G; Shen, Ting T; Han, Miao M; Lian, Yaru Y; Fu, Haihui H; Luo, Yan Y; Yang, Yanqin Y; Liu, Jie J; Wakabayashi, Yoshi Y; Li, Zheng Z; Finkel, Toren T; Xu, Hong H; Zhu, Jun J
Publication Date: 2015-07-27

Variant appearance in text: PS1: D257A
PubMed Link: 26212336
Variant Present in the following documents:
  • srep12049.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: D257A
PubMed Link: 26025363
Variant Present in the following documents:
  • Main text
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Alzheimer presenilin-1 mutations dramatically reduce trimming of long amyloid β-peptides (Aβ) by γ-secretase to increase 42-to-40-residue Aβ.

The Journal Of Biological Chemistry
Fernandez, Marty A MA; Klutkowski, Julia A JA; Freret, Taylor T; Wolfe, Michael S MS
Publication Date: 2014-11-07

Variant appearance in text: PS1: D257A
PubMed Link: 25239621
Variant Present in the following documents:
  • Main text
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Development of CBAP-BPyne, a probe for γ-secretase and presenilinase.

Medchemcomm
Gertsik, Natalya N; Ballard, T Eric TE; Am Ende, Christopher W CW; Johnson, Douglas S DS; Li, Yue-Ming YM
Publication Date: 2014-03

Variant appearance in text: PS1: D257A
PubMed Link: 24914408
Variant Present in the following documents:
  • Main text
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An interactive network of elastase, secretases, and PAR-2 protein regulates CXCR1 receptor surface expression on neutrophils.

The Journal Of Biological Chemistry
Bakele, Martina M; Lotz-Havla, Amelie S AS; Jakowetz, Anja A; Carevic, Melanie M; Marcos, Veronica V; Muntau, Ania C AC; Gersting, Soeren W SW; Hartl, Dominik D
Publication Date: 2014-07-25

Variant appearance in text: PSEN1: D257A
PubMed Link: 24914212
Variant Present in the following documents:
  • Main text
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Increased mtDNA mutations with aging promotes amyloid accumulation and brain atrophy in the APP/Ld transgenic mouse model of Alzheimer's disease.

Molecular Neurodegeneration
Kukreja, Lokesh L; Kujoth, Gregory C GC; Prolla, Tomas A TA; Van Leuven, Fred F; Vassar, Robert R
Publication Date: 2014-05-02

Variant appearance in text: PS1: D257A
PubMed Link: 24885175
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: D257A
PubMed Link: 24463814
Variant Present in the following documents:
  • Main text
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Presenilins regulate neurotrypsin gene expression and neurotrypsin-dependent agrin cleavage via cyclic AMP response element-binding protein (CREB) modulation.

The Journal Of Biological Chemistry
Almenar-Queralt, Angels A; Kim, Sonia N SN; Benner, Christopher C; Herrera, Cheryl M CM; Kang, David E DE; Garcia-Bassets, Ivan I; Goldstein, Lawrence S B LS
Publication Date: 2013-12-06

Variant appearance in text: PSEN1: D257A
PubMed Link: 24145027
Variant Present in the following documents:
  • Main text
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Biological function of Presenilin and its role in AD pathogenesis.

Translational Neurodegeneration
Zhang, Shuting S; Zhang, Mingming M; Cai, Fang F; Song, Weihong W
Publication Date: 2013-07-17

Variant appearance in text: PS1: D257A
PubMed Link: 23866842
Variant Present in the following documents:
  • Main text
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Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Heilig, Elizabeth A EA; Gutti, Usha U; Tai, Tara T; Shen, Jie J; Kelleher, Raymond J RJ
Publication Date: 2013-07-10

Variant appearance in text: PS1: D257A
PubMed Link: 23843529
Variant Present in the following documents:
  • Main text
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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: D257A
PubMed Link: 23122960
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: D257A
PubMed Link: 22892566
Variant Present in the following documents:
  • emboj2012202a.pdf
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Lysosomal calcium homeostasis defects, not proton pump defects, cause endo-lysosomal dysfunction in PSEN-deficient cells.

The Journal Of Cell Biology
Coen, Katrijn K; Flannagan, Ronald S RS; Baron, Szilvia S; Carraro-Lacroix, Luciene R LR; Wang, Dong D; Vermeire, Wendy W; Michiels, Christine C; Munck, Sebastian S; Baert, Veerle V; Sugita, Shuzo S; Wuytack, Frank F; Hiesinger, Peter Robin PR; Grinstein, Sergio S; Annaert, Wim W
Publication Date: 2012-07-09

Variant appearance in text: PSEN1: D257A
PubMed Link: 22753898
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: D257A
PubMed Link: 22529981
Variant Present in the following documents:
  • Main text
  • pone.0035133.pdf
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Lack of evidence for presenilins as endoplasmic reticulum Ca2+ leak channels.

The Journal Of Biological Chemistry
Shilling, Dustin D; Mak, Don-On Daniel DO; Kang, David E DE; Foskett, J Kevin JK
Publication Date: 2012-03-30

Variant appearance in text: PS1: D257A
PubMed Link: 22311977
Variant Present in the following documents:
  • Main text
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Presenilin1/gamma-secretase promotes the EphB2-induced phosphorylation of ephrinB2 by regulating phosphoprotein associated with glycosphingolipid-enriched microdomains/Csk binding protein.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Georgakopoulos, Anastasios A; Xu, Jindong J; Xu, Chijie C; Mauger, Gweltas G; Barthet, Gael G; Robakis, Nikolaos K NK
Publication Date: 2011-10

Variant appearance in text: PS1: D257A
PubMed Link: 21746865
Variant Present in the following documents:
  • Main text
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Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis.

Cell Calcium
Supnet, Charlene C; Bezprozvanny, Ilya I
Publication Date: 2011-09

Variant appearance in text: PS1: D257A
PubMed Link: 21663966
Variant Present in the following documents:
  • Main text
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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: D257A
PubMed Link: 21531718
Variant Present in the following documents:
  • Main text
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Presenilin is necessary for efficient proteolysis through the autophagy-lysosome system in a γ-secretase-independent manner.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Neely, Kara M KM; Green, Kim N KN; LaFerla, Frank M FM
Publication Date: 2011-02-23

Variant appearance in text: PS1: D257A
PubMed Link: 21414900
Variant Present in the following documents:
  • Main text
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A novel role for {gamma}-secretase: selective regulation of spontaneous neurotransmitter release from hippocampal neurons.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Pratt, Kara G KG; Zhu, Ping P; Watari, Hirofumi H; Cook, David G DG; Sullivan, Jane M JM
Publication Date: 2011-01-19

Variant appearance in text: PS1: D257A
PubMed Link: 21248114
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: D257A
PubMed Link: 21115843
Variant Present in the following documents:
  • Main text
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Amyloid-β production via cleavage of amyloid-β protein precursor is modulated by cell density.

Journal Of Alzheimer'S Disease : Jad
Zhang, Can C; Browne, Andrew A; Divito, Jason R JR; Stevenson, Jesse A JA; Romano, Donna D; Dong, Yuanlin Y; Xie, Zhongcong Z; Tanzi, Rudolph E RE
Publication Date: 2010

Variant appearance in text: PSEN1: D257A
PubMed Link: 20847415
Variant Present in the following documents:
  • Main text
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Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.

Journal Of Alzheimer'S Disease : Jad
Nelson, Omar O; Supnet, Charlene C; Liu, Huarui H; Bezprozvanny, Ilya I
Publication Date: 2010

Variant appearance in text: PS1: D257A
PubMed Link: 20634584
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: D257A
PubMed Link: 20573903
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: D257A
PubMed Link: 20460383
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: D257A
PubMed Link: 20418378
Variant Present in the following documents:
  • Main text
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Using a genetically targeted sensor to investigate the role of presenilin-1 in ER Ca2+ levels and dynamics.

Molecular Biosystems
McCombs, Janet E JE; Gibson, Emily A EA; Palmer, Amy E AE
Publication Date: 2010-09

Variant appearance in text: PS1: D257A
PubMed Link: 20379593
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: D257A
PubMed Link: 20332427
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: D257A
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: D257A
PubMed Link: 19415127
Variant Present in the following documents:
  • Main text
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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

Variant appearance in text: PS1: D257A
PubMed Link: 19369254
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Indirect regulation of presenilins in CREB-mediated transcription.

The Journal Of Biological Chemistry
Watanabe, Hirotaka H; Smith, Miriam J MJ; Heilig, Elizabeth E; Beglopoulos, Vassilios V; Kelleher, Raymond J RJ; Shen, Jie J
Publication Date: 2009-05-15

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PubMed Link: 19289467
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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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gamma-Secretase activity modulates store-operated Ca2+ entry into rat sensory neurons.

Neuroscience Letters
Shideman, Charles R CR; Reinardy, Jessica L JL; Thayer, Stanley A SA
Publication Date: 2009-02-20

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PubMed Link: 19114088
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Presenilin: RIP and beyond.

Seminars In Cell & Developmental Biology
Hass, Matthew R MR; Sato, Chihiro C; Kopan, Raphael R; Zhao, Guojun G
Publication Date: 2009-04

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PubMed Link: 19073272
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p120 catenin recruits cadherins to gamma-secretase and inhibits production of Abeta peptide.

The Journal Of Biological Chemistry
Kouchi, Zen Z; Barthet, Gael G; Serban, Geo G; Georgakopoulos, Anastasios A; Shioi, Junichi J; Robakis, Nikolaos K NK
Publication Date: 2009-01-23

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PubMed Link: 19008223
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Genetic dissection of gamma-secretase-dependent and -independent functions of presenilin in regulating neuronal cell cycle and cell death.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Kallhoff-Munoz, Verena V; Hu, Lingyun L; Chen, Xiaoli X; Pautler, Robia G RG; Zheng, Hui H
Publication Date: 2008-10-29

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PubMed Link: 18971484
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Proteomic profiling of gamma-secretase substrates and mapping of substrate requirements.

Plos Biology
Hemming, Matthew L ML; Elias, Joshua E JE; Gygi, Steven P SP; Selkoe, Dennis J DJ
Publication Date: 2008-10-21

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PubMed Link: 18942891
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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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Role of X11 and ubiquilin as in vivo regulators of the amyloid precursor protein in Drosophila.

Plos One
Gross, Garrett G GG; Feldman, R M Renny RM; Ganguly, Atish A; Wang, Jinhui J; Yu, Hong H; Guo, Ming M
Publication Date: 2008-06-25

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PubMed Link: 18575606
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Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1.

The Journal Of Clinical Investigation
Nelson, Omar O; Tu, Huiping H; Lei, Tianhua T; Bentahir, Mostafa M; de Strooper, Bart B; Bezprozvanny, Ilya I
Publication Date: 2007-05

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PubMed Link: 17431506
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Ligand binding and calcium influx induce distinct ectodomain/gamma-secretase-processing pathways of EphB2 receptor.

The Journal Of Biological Chemistry
Litterst, Claudia C; Georgakopoulos, Anastasios A; Shioi, Junichi J; Ghersi, Enrico E; Wisniewski, Thomas T; Wang, Rong R; Ludwig, Andreas A; Robakis, Nikolaos K NK
Publication Date: 2007-06-01

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PubMed Link: 17428795
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Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations.

Cell
Tu, Huiping H; Nelson, Omar O; Bezprozvanny, Arseny A; Wang, Zhengnan Z; Lee, Sheu-Fen SF; Hao, Yi-Heng YH; Serneels, Lutgarde L; De Strooper, Bart B; Yu, Gang G; Bezprozvanny, Ilya I
Publication Date: 2006-09-08

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PubMed Link: 16959576
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Regulated intramembrane proteolysis of amyloid precursor protein and regulation of expression of putative target genes.

Embo Reports
Hébert, Sébastien S SS; Serneels, Lutgarde L; Tolia, Alexandra A; Craessaerts, Katleen K; Derks, Carmen C; Filippov, Mikhail A MA; Müller, Ulrike U; De Strooper, Bart B
Publication Date: 2006-07

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PubMed Link: 16729020
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Deletion of presenilin 1 hydrophilic loop sequence leads to impaired gamma-secretase activity and exacerbated amyloid pathology.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Deng, Yu Y; Tarassishin, Leonid L; Kallhoff, Verena V; Peethumnongsin, Erica E; Wu, Ling L; Li, Yue-Ming YM; Zheng, Hui H
Publication Date: 2006-04-05

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PubMed Link: 16597739
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Metalloproteinase/Presenilin1 processing of ephrinB regulates EphB-induced Src phosphorylation and signaling.

The Embo Journal
Georgakopoulos, Anastasios A; Litterst, Claudia C; Ghersi, Enrico E; Baki, Lia L; Xu, ChiJie C; Serban, Geo G; Robakis, Nikolaos K NK
Publication Date: 2006-03-22

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PubMed Link: 16511561
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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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Longer forms of amyloid beta protein: implications for the mechanism of intramembrane cleavage by gamma-secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Qi-Takahara, Yue Y; Morishima-Kawashima, Maho M; Tanimura, Yu Y; Dolios, Georgia G; Hirotani, Naoko N; Horikoshi, Yuko Y; Kametani, Fuyuki F; Maeda, Masahiro M; Saido, Takaomi C TC; Wang, Rong R; Ihara, Yasuo Y
Publication Date: 2005-01-12

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PubMed Link: 15647487
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