Publications:

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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: PSEN1: l153V

PubMed Link: 36314207

Variant Present in the following documents:

• jad-90-jad220655.pdf

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Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-09-19

Variant appearance in text: PSEN1: Leu153Val

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

View BVdb publication page

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Dementia in Latin America: Paving the way toward a regional action plan.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Parra, Mario Alfredo MA; Baez, Sandra S; Sedeño, Lucas L; Gonzalez Campo, Cecilia C; Santamaría-García, Hernando H; Aprahamian, Ivan I; Bertolucci, Paulo Hf PH; Bustin, Julian J; Camargos Bicalho, Maria Aparecida MA; Cano-Gutierrez, Carlos C; Caramelli, Paulo P; Chaves, Marcia L F MLF; Cogram, Patricia P; Beber, Bárbara Costa BC; Court, Felipe A FA; de Souza, Leonardo Cruz LC; Custodio, Nilton N; Damian, Andres A; de la Cruz, Myriam M; Diehl Rodriguez, Roberta R; Brucki, Sonia Maria Dozzi SMD; Fajersztajn, Lais L; Farías, Gonzalo A GA; De Felice, Fernanda G FG; Ferrari, Raffaele R; de Oliveira, Fabricio Ferreira FF; Ferreira, Sergio T ST; Ferretti, Ceres C; Figueredo Balthazar, Marcio Luiz ML; Ferreira Frota, Norberto Anizio NA; Fuentes, Patricio P; García, Adolfo M AM; Garcia, Patricia J PJ; de Gobbi Porto, Fábio Henrique FH; Duque Peñailillo, Lissette L; Engler, Henry Willy HW; Maier, Irene I; Mata, Ignacio F IF; Gonzalez-Billault, Christian C; Lopez, Oscar L OL; Morelli, Laura L; Nitrini, Ricardo R; Quiroz, Yakeel T YT; Guerrero Barragan, Alejandra A; Huepe, David D; Pio, Fabricio Joao FJ; Suemoto, Claudia Kimie CK; Kochhann, Renata R; Kochen, Silvia S; Kumfor, Fiona F; Lanata, Serggio S; Miller, Bruce B; Mansur, Leticia Lessa LL; Hosogi, Mirna Lie ML; Lillo, Patricia P; Llibre Guerra, Jorge J; Lira, David D; Lopera, Francisco F; Comas, Adelina A; Avila-Funes, José Alberto JA; Sosa, Ana Luisa AL; Ramos, Claudia C; Resende, Elisa de Paula França EPF; Snyder, Heather M HM; Tarnanas, Ioannis I; Yokoyama, Jenifer J; Llibre, Juan J; Cardona, Juan Felipe JF; Possin, Kate K; Kosik, Kenneth S KS; Montesinos, Rosa R; Moguilner, Sebastian S; Solis, Patricia Cristina Lourdes PCL; Ferretti-Rebustini, Renata Eloah de Lucena REL; Ramirez, Jeronimo Martin JM; Matallana, Diana D; Mbakile-Mahlanza, Lingani L; Marques Ton, Alyne Mendonça AM; Tavares, Ronnielly Melo RM; Miotto, Eliane C EC; Muniz-Terrera, Graciela G; Muñoz-Nevárez, Luis Arnoldo LA; Orozco, David D; Okada de Oliveira, Maira M; Piguet, Olivier O; Pintado Caipa, Maritza M; Piña Escudero, Stefanie Danielle SD; Schilling, Lucas Porcello LP; Rodrigues Palmeira, André Luiz AL; Yassuda, Mônica Sanches MS; Santacruz-Escudero, Jose Manuel JM; Serafim, Rodrigo Bernardo RB; Smid, Jerusa J; Slachevsky, Andrea A; Serrano, Cecilia C; Soto-Añari, Marcio M; Takada, Leonel Tadao LT; Grinberg, Lea Tenenholz LT; Teixeira, Antonio Lucio AL; Barbosa, Maira Tonidandel MT; Trépel, Dominic D; Ibanez, Agustin A

Publication Date: 2021-02

Variant appearance in text: PSEN1: L153V

PubMed Link: 33634602

Variant Present in the following documents:

• ALZ-17-295.pdf

View BVdb publication page

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Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.

Embo Molecular Medicine

Dunbar, Lucy A LA; Patni, Pranav P; Aguilar, Carlos C; Mburu, Philomena P; Corns, Laura L; Wells, Helena Rr HR; Delmaghani, Sedigheh S; Parker, Andrew A; Johnson, Stuart S; Williams, Debbie D; Esapa, Christopher T CT; Simon, Michelle M MM; Chessum, Lauren L; Newton, Sherylanne S; Dorning, Joanne J; Jeyarajan, Prashanthini P; Morse, Susan S; Lelli, Andrea A; Codner, Gemma F GF; Peineau, Thibault T; Gopal, Suhasini R SR; Alagramam, Kumar N KN; Hertzano, Ronna R; Dulon, Didier D; Wells, Sara S; Williams, Frances M FM; Petit, Christine C; Dawson, Sally J SJ; Brown, Steve Dm SD; Marcotti, Walter W; El-Amraoui, Aziz A; Bowl, Michael R MR

Publication Date: 2019-09

Variant appearance in text: PSEN1: Leu153Val

PubMed Link: 31448880

Variant Present in the following documents:

• Main text
• EMMM-11-e10288.pdf

View BVdb publication page

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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: L153V

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

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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: L153V

PubMed Link: 30280653

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

Neurobiology Of Aging

Wang, Jen-Chyong JC; Alinaghi, Somayeh S; Tafakhori, Abbas A; Sikora, Elizabeth E; Azcona, Luis J LJ; Karkheiran, Siamak S; Goate, Alison A; Paisán-Ruiz, Coro C; Darvish, Hossein H

Publication Date: 2018-02

Variant appearance in text: PSEN1: Leu153Val

PubMed Link: 29175279

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reduction of calcium flux from the extracellular region and endoplasmic reticulum by amorphous nano-silica particles owing to carboxy group addition on their surface.

Biochemistry And Biophysics Reports

Onodera, Akira A; Yayama, Katsutoshi K; Morosawa, Hideto H; Ishii, Yukina Y; Tsutsumi, Yasuo Y; Kawai, Yuichi Y

Publication Date: 2017-03

Variant appearance in text: PSEN1: L153V

PubMed Link: 29114587

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Genome Research

Keogh, Michael J MJ; Wei, Wei W; Wilson, Ian I; Coxhead, Jon J; Ryan, Sarah S; Rollinson, Sara S; Griffin, Helen H; Kurzawa-Akanbi, Marzena M; Santibanez-Koref, Mauro M; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Ironside, James W JW; Chinnery, Patrick F PF

Publication Date: 2017-01

Variant appearance in text: PSEN1: 457C>G; L153V

PubMed Link: 28003435

Variant Present in the following documents:

• supp_gr.210609.116_Supplemental_Variant_data.xlsx, sheet 2
• supp_gr.210609.116_Supplemental_Clinical_data.xlsx, sheet 2

View BVdb publication page

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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: Leu153Val

PubMed Link: 27799753

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial Alzheimer's Disease Lymphocytes Respond Differently Than Sporadic Cells to Oxidative Stress: Upregulated p53-p21 Signaling Linked with Presenilin 1 Mutants.

Molecular Neurobiology

Wojsiat, Joanna J; Laskowska-Kaszub, Katarzyna K; Alquézar, Carolina C; Białopiotrowicz, Emilia E; Esteras, Noemi N; Zdioruk, Mykola M; Martin-Requero, Angeles A; Wojda, Urszula U

Publication Date: 2017-09

Variant appearance in text: PS1: L153V

PubMed Link: 27644130

Variant Present in the following documents:

• Main text
• 12035_2016_Article_105.pdf

View BVdb publication page

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New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Journal Of Translational Medicine

Pronicka, Ewa E; Piekutowska-Abramczuk, Dorota D; Ciara, Elżbieta E; Trubicka, Joanna J; Rokicki, Dariusz D; Karkucińska-Więckowska, Agnieszka A; Pajdowska, Magdalena M; Jurkiewicz, Elżbieta E; Halat, Paulina P; Kosińska, Joanna J; Pollak, Agnieszka A; Rydzanicz, Małgorzata M; Stawinski, Piotr P; Pronicki, Maciej M; Krajewska-Walasek, Małgorzata M; Płoski, Rafał R

Publication Date: 2016-06-12

Variant appearance in text: PSEN1: Leu153Val

PubMed Link: 27290639

Variant Present in the following documents:

• 12967_2016_Article_930.pdf

View BVdb publication page

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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: Leu153Val

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

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Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease.

Neuroscience Letters

Cornejo-Olivas, Mario R MR; Yu, Chang-En CE; Mazzetti, Pilar P; Mata, Ignacio F IF; Meza, Maria M; Lindo-Samanamud, Saul S; Leverenz, James B JB; Bird, Thomas D TD

Publication Date: 2014-03-20

Variant appearance in text: PSEN1: 457C>G; L153V

PubMed Link: 24495933

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: L153V

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

View BVdb publication page

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Antioxidant therapies for Alzheimer's disease.

Oxidative Medicine And Cellular Longevity

Feng, Ye Y; Wang, Xiaochuan X

Publication Date: 2012

Variant appearance in text: PS1: L153V

PubMed Link: 22888398

Variant Present in the following documents:

• OXIMED2012-472932.pdf

View BVdb publication page

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Conformational altered p53 as an early marker of oxidative stress in Alzheimer's disease.

Plos One

Buizza, Laura L; Cenini, Giovanna G; Lanni, Cristina C; Ferrari-Toninelli, Giulia G; Prandelli, Chiara C; Govoni, Stefano S; Buoso, Erica E; Racchi, Marco M; Barcikowska, Maria M; Styczynska, Maria M; Szybinska, Aleksandra A; Butterfield, David Allan DA; Memo, Maurizio M; Uberti, Daniela D

Publication Date: 2012

Variant appearance in text: PS1: L153V

PubMed Link: 22242180

Variant Present in the following documents:

• Main text
• pone.0029789.pdf

View BVdb publication page

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