Publications:

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Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

International Journal Of Molecular Sciences

Yang, Youngsoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2023-05-08

Variant appearance in text: PSEN1: Pro117Leu

PubMed Link: 37176125

Variant Present in the following documents:

• ijms-24-08417.pdf

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Mechanisms of abnormal adult hippocampal neurogenesis in Alzheimer's disease.

Frontiers In Neuroscience

Zhou, Yujuan Y; Wang, Xu X; Liu, Yingying Y; Gu, Yulu Y; Gu, Renjun R; Zhang, Geng G; Lin, Qing Q

Publication Date: 2023

Variant appearance in text: PS1: P117L

PubMed Link: 36875663

Variant Present in the following documents:

• fnins-17-1125376.pdf

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Potential of Therapeutic Small Molecules in Apoptosis Regulation in the Treatment of Neurodegenerative Diseases: An Updated Review.

Molecules (Basel, Switzerland)

Dailah, Hamad Ghaleb HG

Publication Date: 2022-10-25

Variant appearance in text: PSEN1: P117L

PubMed Link: 36364033

Variant Present in the following documents:

• Main text
• molecules-27-07207.pdf

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Mixed Pathologies in a Subject with a Novel PSEN1 G206R Mutation.

Journal Of Alzheimer'S Disease : Jad

Libard, Sylwia S; Giedraitis, Vilmantas V; Kilander, Lena L; Ingelsson, Martin M; Alafuzoff, Irina I

Publication Date: 2022-10-22

Variant appearance in text: PS1: Pro117Leu

PubMed Link: 36314207

Variant Present in the following documents:

• jad-90-jad220655.pdf

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Patient-Derived Fibroblasts With Presenilin-1 Mutations, That Model Aspects of Alzheimer's Disease Pathology, Constitute a Potential Object for Early Diagnosis.

Frontiers In Aging Neuroscience

Lopez-Toledo, Gustavo G; Silva-Lucero, Maria-Del-Carmen MD; Herrera-Díaz, Jorge J; García, David-Erasmo DE; Arias-Montaño, José-Antonio JA; Cardenas-Aguayo, Maria-Del-Carmen MD

Publication Date: 2022

Variant appearance in text: PS1: P117L

PubMed Link: 35847683

Variant Present in the following documents:

• fnagi-14-921573.pdf

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Adult hippocampal neurogenesis and its impairment in Alzheimer's disease.

Zoological Research

Kim, Thomas A TA; Syty, Michelle D MD; Wu, Kaitlyn K; Ge, Shaoyu S

Publication Date: 2022-05-18

Variant appearance in text: PSEN1: P117L

PubMed Link: 35503338

Variant Present in the following documents:

• Main text
• zr-43-3-481.pdf

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Recent Advances in the Modeling of Alzheimer's Disease.

Frontiers In Neuroscience

Sasaguri, Hiroki H; Hashimoto, Shoko S; Watamura, Naoto N; Sato, Kaori K; Takamura, Risa R; Nagata, Kenichi K; Tsubuki, Satoshi S; Ohshima, Toshio T; Yoshiki, Atsushi A; Sato, Kenya K; Kumita, Wakako W; Sasaki, Erika E; Kitazume, Shinobu S; Nilsson, Per P; Winblad, Bengt B; Saito, Takashi T; Iwata, Nobuhisa N; Saido, Takaomi C TC

Publication Date: 2022

Variant appearance in text: PSEN1: P117L

PubMed Link: 35431779

Variant Present in the following documents:

• Main text
• fnins-16-807473.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: P117L

PubMed Link: 35237315

Variant Present in the following documents:

• NP2022-3172861.pdf

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Effect of soluble amyloid precursor protein-alpha on adult hippocampal neurogenesis in a mouse model of Alzheimer's disease.

Molecular Brain

Ohline, Shane M SM; Chan, Connie C; Schoderboeck, Lucia L; Wicky, Hollie E HE; Tate, Warren P WP; Hughes, Stephanie M SM; Abraham, Wickliffe C WC

Publication Date: 2022-01-03

Variant appearance in text: PS1: P117L

PubMed Link: 34980189

Variant Present in the following documents:

• 13041_2021_Article_889.pdf

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Effect of soluble amyloid precursor protein-alpha on adult hippocampal neurogenesis in a mouse model of Alzheimer's disease.

Molecular Brain

Ohline, Shane M SM; Chan, Connie C; Schoderboeck, Lucia L; Wicky, Hollie E HE; Tate, Warren P WP; Hughes, Stephanie M SM; Abraham, Wickliffe C WC

Publication Date: 2022-01-03

Variant appearance in text: PS1: P117L

PubMed Link: 34980189

Variant Present in the following documents:

• 13041_2021_Article_889.pdf

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Basal lamina changes in neurodegenerative disorders.

Molecular Neurodegeneration

Nguyen, Benjamin B; Bix, Gregory G; Yao, Yao Y

Publication Date: 2021-12-07

Variant appearance in text: PSEN1: P117L

PubMed Link: 34876200

Variant Present in the following documents:

• Main text

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Gene Editing and Alzheimer's Disease: Is There Light at the End of the Tunnel?

Frontiers In Genome Editing

Stepanichev, Mikhail M

Publication Date: 2020

Variant appearance in text: PSEN1: P117L

PubMed Link: 34713213

Variant Present in the following documents:

• Main text
• fgeed-02-00004.pdf

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Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

The American Journal Of Pathology

Kalaria, Rajesh N RN; Sepulveda-Falla, Diego D

Publication Date: 2021-11

Variant appearance in text: PSEN1: Pro117Leu

PubMed Link: 34331941

Variant Present in the following documents:

• Main text
• main.pdf

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A third-generation mouse model of Alzheimer's disease shows early and increased cored plaque pathology composed of wild-type human amyloid β peptide.

The Journal Of Biological Chemistry

Sato, Kaori K; Watamura, Naoto N; Fujioka, Ryo R; Mihira, Naomi N; Sekiguchi, Misaki M; Nagata, Kenichi K; Ohshima, Toshio T; Saito, Takashi T; Saido, Takaomi C TC; Sasaguri, Hiroki H

Publication Date: 2021-09

Variant appearance in text: PSEN1: P117L

PubMed Link: 34329683

Variant Present in the following documents:

• Main text
• main.pdf

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Presenilin mutations and their impact on neuronal differentiation in Alzheimer's disease.

Neural Regeneration Research

Hernandez-Sapiens, Mercedes A MA; Reza-Zaldívar, Edwin E EE; Márquez-Aguirre, Ana L AL; Gómez-Pinedo, Ulises U; Matias-Guiu, Jorge J; Cevallos, Ricardo R RR; Mateos-Díaz, Juan C JC; Sánchez-González, Víctor J VJ; Canales-Aguirre, Alejandro A AA

Publication Date: 2022-01

Variant appearance in text: PSEN1: P117L

PubMed Link: 34100423

Variant Present in the following documents:

• Main text
• NRR-17-31.pdf

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Brain-derived neurotrophic factor increases cell number of neural progenitor cells derived from human induced pluripotent stem cells.

Peerj

Pansri, Panetha P; Phanthong, Phetcharat P; Suthprasertporn, Nopparat N; Kitiyanant, Yindee Y; Tubsuwan, Alisa A; Dinnyes, Andras A; Kobolak, Julianna J; Kitiyanant, Narisorn N

Publication Date: 2021

Variant appearance in text: PSEN1: P117L

PubMed Link: 34026357

Variant Present in the following documents:

• Main text
• peerj-09-11388.pdf

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Anti-Alzheimer's Molecules Derived from Marine Life: Understanding Molecular Mechanisms and Therapeutic Potential.

Marine Drugs

Kabir, Md Tanvir MT; Uddin, Md Sahab MS; Jeandet, Philippe P; Emran, Talha Bin TB; Mitra, Saikat S; Albadrani, Ghadeer M GM; Sayed, Amany A AA; Abdel-Daim, Mohamed M MM; Simal-Gandara, Jesus J

Publication Date: 2021-04-28

Variant appearance in text: PSEN1: P117L

PubMed Link: 33925063

Variant Present in the following documents:

• Main text

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Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.

Cell Reports

Arber, Charles C; Lovejoy, Christopher C; Harris, Lachlan L; Willumsen, Nanet N; Alatza, Argyro A; Casey, Jackie M JM; Lines, Georgie G; Kerins, Caoimhe C; Mueller, Anika K AK; Zetterberg, Henrik H; Hardy, John J; Ryan, Natalie S NS; Fox, Nick C NC; Lashley, Tammaryn T; Wray, Selina S

Publication Date: 2021-01-12

Variant appearance in text: PSEN1: P117L

PubMed Link: 33440141

Variant Present in the following documents:

• mmc3.pdf

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Mutational analysis in familial Alzheimer's disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile.

Scientific Reports

Lin, Yung-Shuan YS; Cheng, Chih-Ya CY; Liao, Yi-Chu YC; Hong, Chen-Jee CJ; Fuh, Jong-Ling JL

Publication Date: 2020-11-13

Variant appearance in text: PSEN1: Pro117Leu

PubMed Link: 33188256

Variant Present in the following documents:

• Main text
• 41598_2020_Article_76794.pdf
• 41598_2020_76794_MOESM2_ESM.pdf

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Presenilin-2 and Calcium Handling: Molecules, Organelles, Cells and Brain Networks.

Cells

Pizzo, Paola P; Basso, Emy E; Filadi, Riccardo R; Greotti, Elisa E; Leparulo, Alessandro A; Pendin, Diana D; Redolfi, Nelly N; Rossini, Michela M; Vajente, Nicola N; Pozzan, Tullio T; Fasolato, Cristina C

Publication Date: 2020-09-25

Variant appearance in text: PS1: P117L

PubMed Link: 32992716

Variant Present in the following documents:

• Main text
• cells-09-02166.pdf

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Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)

Bagyinszky, Eva E; Lee, Hyon H; Pyun, Jung Min JM; Suh, Jeewon J; Kang, Min Ju MJ; Vo, Van Giau VG; An, Seong Soo A SSA; Park, Kee Hyung KH; Kim, SangYun S

Publication Date: 2020-06-14

Variant appearance in text: PSEN1: Pro117Leu

PubMed Link: 32545847

Variant Present in the following documents:

• Main text
• diagnostics-10-00405.pdf

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Neuroprotection against Amyloid-β-Induced DNA Double-Strand Breaks Is Mediated by Multiple Retinoic Acid-Dependent Pathways.

Neural Plasticity

Colas, Julien J; Chessel, Natacha N; Ouared, Allaeddine A; Gruz-Gibelli, Emmanuelle E; Marin, Pascale P; Herrmann, François R FR; Savioz, Armand A

Publication Date: 2020

Variant appearance in text: PS1: P117L

PubMed Link: 32256561

Variant Present in the following documents:

• NP2020-9369815.pdf

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Neuroinflammation and Neurogenesis in Alzheimer's Disease and Potential Therapeutic Approaches.

International Journal Of Molecular Sciences

Sung, Pi-Shan PS; Lin, Po-Yu PY; Liu, Chi-Hung CH; Su, Hui-Chen HC; Tsai, Kuen-Jer KJ

Publication Date: 2020-01-21

Variant appearance in text: PS1: P117L

PubMed Link: 31973106

Variant Present in the following documents:

• ijms-21-00701.pdf

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Assessing the therapeutic potential of Graptopetalum paraguayense on Alzheimer's disease using patient iPSC-derived neurons.

Scientific Reports

Wu, Pei-Chun PC; Fann, Ming-Ji MJ; Tran, Tu Thanh TT; Chen, Shu-Cian SC; Devina, Tania T; Cheng, Irene Han-Juo IH; Lien, Cheng-Chang CC; Kao, Lung-Sen LS; Wang, Shuu-Jiun SJ; Fuh, Jong-Ling JL; Tzeng, Tsai-Teng TT; Huang, Chi-Ying CY; Shiao, Young-Ji YJ; Wong, Yu-Hui YH

Publication Date: 2019-12-17

Variant appearance in text: PS1: P117L

PubMed Link: 31848379

Variant Present in the following documents:

• Main text
• 41598_2019_Article_55614.pdf

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GSKIP-Mediated Anchoring Increases Phosphorylation of Tau by PKA but Not by GSK3beta via cAMP/PKA/GSKIP/GSK3/Tau Axis Signaling in Cerebrospinal Fluid and iPS Cells in Alzheimer Disease.

Journal Of Clinical Medicine

Ko, Huey-Jiun HJ; Chiou, Shean-Jaw SJ; Wong, Yu-Hui YH; Wang, Yin-Hsuan YH; Lai, YunLing Y; Chou, Chia-Hua CH; Wang, Chihuei C; Loh, Joon-Khim JK; Lieu, Ann-Shung AS; Cheng, Jiin-Tsuey JT; Lin, Yu-Te YT; Lu, Pei-Jung PJ; Fann, Ming-Ji MJ; Huang, Chi-Ying F CF; Hong, Yi-Ren YR

Publication Date: 2019-10-21

Variant appearance in text: PSEN1: P117L

PubMed Link: 31640277

Variant Present in the following documents:

• Main text
• jcm-08-01751.pdf

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Conformational Dynamics of Transmembrane Domain 3 of Presenilin 1 Is Associated with the Trimming Activity of γ-Secretase.

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

Cai, Tetsuo T; Morishima, Kanan K; Takagi-Niidome, Shizuka S; Tominaga, Aya A; Tomita, Taisuke T

Publication Date: 2019-10-23

Variant appearance in text: PS1: P117L

PubMed Link: 31527118

Variant Present in the following documents:

• Main text

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Modeling Alzheimer's disease with iPSC-derived brain cells.

Molecular Psychiatry

Penney, Jay J; Ralvenius, William T WT; Tsai, Li-Huei LH

Publication Date: 2020-01

Variant appearance in text: PSEN1: P117L

PubMed Link: 31391546

Variant Present in the following documents:

• Main text

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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: P117L

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Difficult case of a rare form of familial Alzheimer's disease with PSEN1 P117L mutation.

Bmj Case Reports

Rocha, Ana Luísa AL; Costa, Andreia A; Garrett, Maria Carolina MC; Meireles, Joana J

Publication Date: 2018-12-13

Variant appearance in text: PSEN1: P117L

PubMed Link: 30567237

Variant Present in the following documents:

• Main text

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Blood-Brain Barrier: From Physiology to Disease and Back.

Physiological Reviews

Sweeney, Melanie D MD; Zhao, Zhen Z; Montagne, Axel A; Nelson, Amy R AR; Zlokovic, Berislav V BV

Publication Date: 2019-01-01

Variant appearance in text: PSEN1: P117L

PubMed Link: 30280653

Variant Present in the following documents:

• Main text

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PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Bagyinszky, Eva E; Lee, Hye-Mi HM; Van Giau, Vo V; Koh, Seong-Beom SB; Jeong, Jee Hyang JH; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018-09-02

Variant appearance in text: PSEN1: Pro117Leu

PubMed Link: 30200536

Variant Present in the following documents:

• Main text

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Introduction of pathogenic mutations into the mouse Psen1 gene by Base Editor and Target-AID.

Nature Communications

Sasaguri, Hiroki H; Nagata, Kenichi K; Sekiguchi, Misaki M; Fujioka, Ryo R; Matsuba, Yukio Y; Hashimoto, Shoko S; Sato, Kaori K; Kurup, Deepika D; Yokota, Takanori T; Saido, Takaomi C TC

Publication Date: 2018-07-24

Variant appearance in text: PS1: P117L

PubMed Link: 30042426

Variant Present in the following documents:

• Main text
• 41467_2018_5262_MOESM1_ESM.pdf
• 41467_2018_Article_5262.pdf

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Depletion of adult neurogenesis exacerbates cognitive deficits in Alzheimer's disease by compromising hippocampal inhibition.

Molecular Neurodegeneration

Hollands, Carolyn C; Tobin, Matthew Kyle MK; Hsu, Michael M; Musaraca, Kianna K; Yu, Tzong-Shiue TS; Mishra, Rachana R; Kernie, Steven G SG; Lazarov, Orly O

Publication Date: 2017-09-08

Variant appearance in text: PS1: P117L

PubMed Link: 28886753

Variant Present in the following documents:

• 13024_2017_Article_207.pdf

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Beta 2-adrenergic receptor activation enhances neurogenesis in Alzheimer's disease mice.

Neural Regeneration Research

Chai, Gao-Shang GS; Wang, Yang-Yang YY; Yasheng, Amina A; Zhao, Peng P

Publication Date: 2016-10

Variant appearance in text: PS1: P117L

PubMed Link: 27904493

Variant Present in the following documents:

• NRR-11-1617.pdf

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Human mitochondrial transcriptional factor A breaks the mitochondria-mediated vicious cycle in Alzheimer's disease.

Scientific Reports

Oka, Sugako S; Leon, Julio J; Sakumi, Kunihiko K; Ide, Tomomi T; Kang, Dongchon D; LaFerla, Frank M FM; Nakabeppu, Yusaku Y

Publication Date: 2016-11-29

Variant appearance in text: PS1: P117L

PubMed Link: 27897204

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: P117L

PubMed Link: 27199641

Variant Present in the following documents:

• fnins-10-00178.pdf

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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: P117L

PubMed Link: 26818522

Variant Present in the following documents:

• Main text

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A Unified Hypothesis of Early- and Late-Onset Alzheimer's Disease Pathogenesis.

Journal Of Alzheimer'S Disease : Jad

Atwood, Craig S CS; Bowen, Richard L RL

Publication Date: 2015

Variant appearance in text: PS1: P117L

PubMed Link: 26402752

Variant Present in the following documents:

• Main text

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Presenilin-1 familial Alzheimer's disease mutation alters hippocampal neurogenesis and memory function in CCL2 null mice.

Brain, Behavior, And Immunity

Kiyota, Tomomi T; Morrison, Christine M CM; Tu, Guihua G; Dyavarshetty, Bhagyalaxmi B; Weir, Robert A RA; Zhang, Gang G; Xiong, Huangui H; Gendelman, Howard E HE

Publication Date: 2015-10

Variant appearance in text: PS1: P117L

PubMed Link: 26112421

Variant Present in the following documents:

• Main text

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Cerebrospinal fluid biomarkers of neurovascular dysfunction in mild dementia and Alzheimer's disease.

Journal Of Cerebral Blood Flow And Metabolism : Official Journal Of The International Society Of Cerebral Blood Flow And Metabolism

Sweeney, Melanie D MD; Sagare, Abhay P AP; Zlokovic, Berislav V BV

Publication Date: 2015-07

Variant appearance in text: PS1: P117L

PubMed Link: 25899298

Variant Present in the following documents:

• Main text
• jcbfm201576a.pdf

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Cooperative roles of hydrophilic loop 1 and the C-terminus of presenilin 1 in the substrate-gating mechanism of γ-secretase.

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

Takagi-Niidome, Shizuka S; Sasaki, Tomoki T; Osawa, Satoko S; Sato, Takeshi T; Morishima, Kanan K; Cai, Tetsuo T; Iwatsubo, Takeshi T; Tomita, Taisuke T

Publication Date: 2015-02-11

Variant appearance in text: PS1: P117L

PubMed Link: 25673856

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: Pro117Leu

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Soluble γ-secretase modulators selectively inhibit the production of the 42-amino acid amyloid β peptide variant and augment the production of multiple carboxy-truncated amyloid β species.

Biochemistry

Wagner, Steven L SL; Zhang, Can C; Cheng, Soan S; Nguyen, Phuong P; Zhang, Xulun X; Rynearson, Kevin D KD; Wang, Rong R; Li, Yueming Y; Sisodia, Sangram S SS; Mobley, William C WC; Tanzi, Rudolph E RE

Publication Date: 2014-02-04

Variant appearance in text: PS1: P117L

PubMed Link: 24401146

Variant Present in the following documents:

• Main text
• bi401537v.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: P117L

PubMed Link: 24377094

Variant Present in the following documents:

• Main text

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Mutant presenilin 1 expression in excitatory neurons impairs enrichment-mediated phenotypes of adult hippocampal progenitor cells.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Veeraraghavalu, Karthikeyan K; Sisodia, Sangram S SS

Publication Date: 2013-05-28

Variant appearance in text: PSEN1: P117L

PubMed Link: 23674689

Variant Present in the following documents:

• Main text

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Advances in the pathogenesis of Alzheimer's disease: a re-evaluation of amyloid cascade hypothesis.

Translational Neurodegeneration

Dong, Suzhen S; Duan, Yale Y; Hu, Yinghe Y; Zhao, Zheng Z

Publication Date: 2012-09-21

Variant appearance in text: PS1: P117L

PubMed Link: 23210692

Variant Present in the following documents:

• Main text

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