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: Ala260Val

PubMed Link: 37176125

Variant Present in the following documents:

• Main text
• ijms-24-08417.pdf

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Retinal pathological features and proteome signatures of Alzheimer's disease.

Acta Neuropathologica

Koronyo, Yosef Y; Rentsendorj, Altan A; Mirzaei, Nazanin N; Regis, Giovanna C GC; Sheyn, Julia J; Shi, Haoshen H; Barron, Ernesto E; Cook-Wiens, Galen G; Rodriguez, Anthony R AR; Medeiros, Rodrigo R; Paulo, Joao A JA; Gupta, Veer B VB; Kramerov, Andrei A AA; Ljubimov, Alexander V AV; Van Eyk, Jennifer E JE; Graham, Stuart L SL; Gupta, Vivek K VK; Ringman, John M JM; Hinton, David R DR; Miller, Carol A CA; Black, Keith L KL; Cattaneo, Antonino A; Meli, Giovanni G; Mirzaei, Mehdi M; Fuchs, Dieu-Trang DT; Koronyo-Hamaoui, Maya M

Publication Date: 2023-02-11

Variant appearance in text: PSEN1: A260V

PubMed Link: 36773106

Variant Present in the following documents:

• Main text
• 401_2023_Article_2548.pdf

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Aβ and tau prions feature in the neuropathogenesis of Down syndrome.

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

Condello, Carlo C; Maxwell, Alison M AM; Castillo, Erika E; Aoyagi, Atsushi A; Graff, Caroline C; Ingelsson, Martin M; Lannfelt, Lars L; Bird, Thomas D TD; Keene, C Dirk CD; Seeley, William W WW; Perl, Daniel P DP; Head, Elizabeth E; Prusiner, Stanley B SB

Publication Date: 2022-11-16

Variant appearance in text: PSEN1: A260V

PubMed Link: 36343257

Variant Present in the following documents:

• pnas.2212954119.sapp.pdf

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PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.

Frontiers In Aging Neuroscience

Orozco-Barajas, Maribel M; Oropeza-Ruvalcaba, Yulisa Y; Canales-Aguirre, Alejandro A AA; Sánchez-González, Victor J VJ

Publication Date: 2022

Variant appearance in text: PSEN1: A260V

PubMed Link: 35959289

Variant Present in the following documents:

• Main text
• fnagi-14-860529.pdf

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

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: PS1: A260V

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

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

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: PS1: A260V

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

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Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer's Disease on the Orthosteric Site.

Frontiers In Molecular Biosciences

Soto-Ospina, Alejandro A; Araque Marín, Pedronel P; Bedoya, Gabriel G; Sepulveda-Falla, Diego D; Villegas Lanau, Andrés A

Publication Date: 2021

Variant appearance in text: PS1: Ala260Val

PubMed Link: 34150846

Variant Present in the following documents:

• Main text
• fmolb-08-649990.pdf

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A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.

Frontiers In Neuroscience

Yu, Allen Chi-Shing AC; Yim, Aldrin Kay-Yuen AK; Chan, Anne Yin-Yan AY; Yuen, Liz Y P LYP; Au, Wing Chi WC; Cheng, Timothy H T THT; Lin, Xiao X; Li, Jing-Woei JW; Chan, Larry W L LWL; Mok, Vincent C T VCT; Chan, Ting-Fung TF; Chan, Ho Yin Edwin HYE

Publication Date: 2019

Variant appearance in text: PSEN1: Ala260Val

PubMed Link: 31920494

Variant Present in the following documents:

• Main text
• fnins-13-01324.pdf

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Rab GTPases: Switching to Human Diseases.

Cells

Guadagno, Noemi Antonella NA; Progida, Cinzia C

Publication Date: 2019-08-16

Variant appearance in text: PSEN1: A260V

PubMed Link: 31426400

Variant Present in the following documents:

• Main text
• cells-08-00909.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: A260V

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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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: A260V

PubMed Link: 30280653

Variant Present in the following documents:

• Main text

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Impairment of memory generalization in preclinical autosomal dominant Alzheimer's disease mutation carriers.

Neurobiology Of Aging

Petok, Jessica R JR; Myers, Catherine E CE; Pa, Judy J; Hobel, Zachary Z; Wharton, David M DM; Medina, Luis D LD; Casado, Maria M; Coppola, Giovanni G; Gluck, Mark A MA; Ringman, John M JM

Publication Date: 2018-05

Variant appearance in text: PSEN1: A260V

PubMed Link: 29494861

Variant Present in the following documents:

• Main text

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Reconsideration of Amyloid Hypothesis and Tau Hypothesis in Alzheimer's Disease.

Frontiers In Neuroscience

Kametani, Fuyuki F; Hasegawa, Masato M

Publication Date: 2018

Variant appearance in text: PS1: A260V

PubMed Link: 29440986

Variant Present in the following documents:

• fnins-12-00025.pdf

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Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2016

Variant appearance in text: PSEN1: Ala260Val

PubMed Link: 27799753

Variant Present in the following documents:

• Main text
• cia-11-1467.pdf

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Evidence for Mitochondrial UPR Gene Activation in Familial and Sporadic Alzheimer's Disease.

Current Alzheimer Research

Beck, John S JS; Mufson, Elliott J EJ; Counts, Scott E SE

Publication Date: 2016

Variant appearance in text: PS1: A260V

PubMed Link: 26687188

Variant Present in the following documents:

• Main text

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Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.

Journal Of Human Genetics

Kasuga, Kensaku K; Kikuchi, Masataka M; Tokutake, Takayoshi T; Nakaya, Akihiro A; Tezuka, Toshiyuki T; Tsukie, Tamao T; Hara, Norikazu N; Miyashita, Akinori A; Kuwano, Ryozo R; Ikeuchi, Takeshi T

Publication Date: 2015-05

Variant appearance in text: PSEN1: 779C>T; Ala260Val

PubMed Link: 25694106

Variant Present in the following documents:

• jhg201515x1.pdf

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Disease-related mutations among Caribbean Hispanics with familial dementia.

Molecular Genetics & Genomic Medicine

Lee, Joseph H JH; Kahn, Amanda A; Cheng, Rong R; Reitz, Christiane C; Vardarajan, Badri B; Lantigua, Rafael R; Medrano, Martin M; Jiménez-Velázquez, Ivonne Z IZ; Williamson, Jennifer J; Nagy, Peter P; Mayeux, Richard R

Publication Date: 2014-09

Variant appearance in text: PSEN1: Ala260Val

PubMed Link: 25333068

Variant Present in the following documents:

• Main text
• mgg30002-0430.pdf

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Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Current Neurology And Neuroscience Reports

Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,

Publication Date: 2014-11

Variant appearance in text: PSEN1: Ala260Val

PubMed Link: 25217249

Variant Present in the following documents:

• Main text

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U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21.

Molecular Neurodegeneration

Hales, Chadwick M CM; Seyfried, Nicholas T NT; Dammer, Eric B EB; Duong, Duc D; Yi, Hong H; Gearing, Marla M; Troncoso, Juan C JC; Mufson, Elliott J EJ; Thambisetty, Madhav M; Levey, Allan I AI; Lah, James J JJ

Publication Date: 2014-04-28

Variant appearance in text: PS1: A260V

PubMed Link: 24773620

Variant Present in the following documents:

• Main text
• 1750-1326-9-15.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: Ala260Val

PubMed Link: 24729694

Variant Present in the following documents:

• Main text

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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: A260V

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

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A paired RNAi and RabGAP overexpression screen identifies Rab11 as a regulator of β-amyloid production.

Cell Reports

Udayar, Vinod V; Buggia-Prévot, Virginie V; Guerreiro, Rita L RL; Siegel, Gabriele G; Rambabu, Naresh N; Soohoo, Amanda L AL; Ponnusamy, Moorthi M; Siegenthaler, Barbara B; Bali, Jitin J; , ; Simons, Mikael M; Ries, Jonas J; Puthenveedu, Manojkumar A MA; Hardy, John J; Thinakaran, Gopal G; Rajendran, Lawrence L

Publication Date: 2013-12-26

Variant appearance in text: PS1: A260V

PubMed Link: 24373285

Variant Present in the following documents:

• Main text

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Subjects harboring presenilin familial Alzheimer's disease mutations exhibit diverse white matter biochemistry alterations.

American Journal Of Neurodegenerative Disease

Roher, Alex E AE; Maarouf, Chera L CL; Malek-Ahmadi, Michael M; Wilson, Jeffrey J; Kokjohn, Tyler A TA; Daugs, Ian D ID; Whiteside, Charisse M CM; Kalback, Walter M WM; Macias, Mimi P MP; Jacobson, Sandra A SA; Sabbagh, Marwan N MN; Ghetti, Bernardino B; Beach, Thomas G TG

Publication Date: 2013

Variant appearance in text: PSEN1: A260V

PubMed Link: 24093083

Variant Present in the following documents:

• Main text

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Novel antibody capture assay for paraffin-embedded tissue detects wide-ranging amyloid beta and paired helical filament-tau accumulation in cognitively normal older adults.

Brain Pathology (Zurich, Switzerland)

Postupna, Nadia N; Rose, Shannon E SE; Bird, Thomas D TD; Gonzalez-Cuyar, Luis F LF; Sonnen, Joshua A JA; Larson, Eric B EB; Keene, C Dirk CD; Montine, Thomas J TJ

Publication Date: 2012-07

Variant appearance in text: PSEN1: A260V

PubMed Link: 21999410

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: A260V

PubMed Link: 21746865

Variant Present in the following documents:

• Main text

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Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations.

Molecular Neurodegeneration

Maarouf, Chera L CL; Daugs, Ian D ID; Spina, Salvatore S; Vidal, Ruben R; Kokjohn, Tyler A TA; Patton, R Lyle RL; Kalback, Walter M WM; Luehrs, Dean C DC; Walker, Douglas G DG; Castaño, Eduardo M EM; Beach, Thomas G TG; Ghetti, Bernardino B; Roher, Alex E AE

Publication Date: 2008-11-20

Variant appearance in text: PSEN1: A260V

PubMed Link: 19021905

Variant Present in the following documents:

• Main text
• 1750-1326-3-20.pdf

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Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.

Neurobiology Of Aging

Guerreiro, Rita Joao RJ; Baquero, Miquel M; Blesa, Rafael R; Boada, Mercè M; Brás, Jose Miguel JM; Bullido, Maria J MJ; Calado, Ana A; Crook, Richard R; Ferreira, Carla C; Frank, Ana A; Gómez-Isla, Teresa T; Hernández, Isabel I; Lleó, Alberto A; Machado, Alvaro A; Martínez-Lage, Pablo P; Masdeu, José J; Molina-Porcel, Laura L; Molinuevo, José L JL; Pastor, Pau P; Pérez-Tur, Jordi J; Relvas, Rute R; Oliveira, Catarina Resende CR; Ribeiro, Maria Helena MH; Rogaeva, Ekaterina E; Sa, Alfredo A; Samaranch, Lluís L; Sánchez-Valle, Raquel R; Santana, Isabel I; Tàrraga, Lluís L; Valdivieso, Fernando F; Singleton, Andrew A; Hardy, John J; Clarimón, Jordi J

Publication Date: 2010-05

Variant appearance in text: PSEN1: 779C>T; A260V

PubMed Link: 18667258

Variant Present in the following documents:

• Main text

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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

Variant appearance in text: PS1: A260V

PubMed Link: 17428795

Variant Present in the following documents:

• Main text

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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

Variant appearance in text: PS1: A260V

PubMed Link: 16511561

Variant Present in the following documents:

• Main text

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