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: Pro117Ala

PubMed Link: 37176125

Variant Present in the following documents:

• ijms-24-08417.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: Pro117Ala

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Genome Medicine

Acosta-Uribe, Juliana J; Aguillón, David D; Cochran, J Nicholas JN; Giraldo, Margarita M; Madrigal, Lucía L; Killingsworth, Bradley W BW; Singhal, Rijul R; Labib, Sarah S; Alzate, Diana D; Velilla, Lina L; Moreno, Sonia S; García, Gloria P GP; Saldarriaga, Amanda A; Piedrahita, Francisco F; Hincapié, Liliana L; López, Hugo E HE; Perumal, Nithesh N; Morelo, Leonilde L; Vallejo, Dionis D; Solano, Juan Marcos JM; Reiman, Eric M EM; Surace, Ezequiel I EI; Itzcovich, Tatiana T; Allegri, Ricardo R; Sánchez-Valle, Raquel R; Villegas-Lanau, Andrés A; White, Charles L CL; Matallana, Diana D; Myers, Richard M RM; Browning, Sharon R SR; Lopera, Francisco F; Kosik, Kenneth S KS

Publication Date: 2022-03-08

Variant appearance in text: PSEN1: 349C>G; Pro117Ala; rs63750550

PubMed Link: 35260199

Variant Present in the following documents:

• Main text
• 13073_2022_1035_MOESM1_ESM.pdf
• 13073_2022_1035_MOESM9_ESM.xlsx, sheet 1
• 13073_2022_1035_MOESM7_ESM.pdf
• 13073_2022_Article_1035.pdf
• 13073_2022_1035_MOESM8_ESM.xlsx, sheet 1

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Microglial Heterogeneity and Its Potential Role in Driving Phenotypic Diversity of Alzheimer's Disease.

International Journal Of Molecular Sciences

Sorrentino, Stefano S; Ascari, Roberto R; Maderna, Emanuela E; Catania, Marcella M; Ghetti, Bernardino B; Tagliavini, Fabrizio F; Giaccone, Giorgio G; Di Fede, Giuseppe G

Publication Date: 2021-03-09

Variant appearance in text: PS1: P117A

PubMed Link: 33803478

Variant Present in the following documents:

• ijms-22-02780-s001.pdf

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Hydrophilic loop 1 of Presenilin-1 and the APP GxxxG transmembrane motif regulate γ-secretase function in generating Alzheimer-causing Aβ peptides.

The Journal Of Biological Chemistry

Liu, Lei L; Lauro, Bianca M BM; Wolfe, Michael S MS; Selkoe, Dennis J DJ

Publication Date: 2021

Variant appearance in text: PS1: P117A

PubMed Link: 33571524

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genetics of dementia: insights from Latin America.

Dementia & Neuropsychologia

Ramos, Claudia C; Aguillon, David D; Cordano, Christian C; Lopera, Francisco F

Publication Date: 2020

Variant appearance in text: PSEN1: Pro117Ala

PubMed Link: 32973976

Variant Present in the following documents:

• Main text
• 1980-5764-dn-14-03-223.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: Pro117Ala

PubMed Link: 32545847

Variant Present in the following documents:

• Main text
• diagnostics-10-00405.pdf

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Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.

Frontiers In Neurology

You, Chunlin C; Zeng, Weike W; Deng, Lingna L; Lei, Zhihao Z; Gao, Xinyi X; Zhang, Victor Wei VW; Wang, Yidong Y

Publication Date: 2020

Variant appearance in text: PS1: Pro117Ala

PubMed Link: 32431660

Variant Present in the following documents:

• fneur-11-00319.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: P117A

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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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: Pro117Ala

PubMed Link: 30200536

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: P117A

PubMed Link: 30042426

Variant Present in the following documents:

• Main text
• 41467_2018_Article_5262.pdf

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Molecular subtypes of Alzheimer's disease.

Scientific Reports

Di Fede, Giuseppe G; Catania, Marcella M; Maderna, Emanuela E; Ghidoni, Roberta R; Benussi, Luisa L; Tonoli, Elisa E; Giaccone, Giorgio G; Moda, Fabio F; Paterlini, Anna A; Campagnani, Ilaria I; Sorrentino, Stefano S; Colombo, Laura L; Kubis, Adriana A; Bistaffa, Edoardo E; Ghetti, Bernardino B; Tagliavini, Fabrizio F

Publication Date: 2018-02-19

Variant appearance in text: PS1: P117A

PubMed Link: 29459625

Variant Present in the following documents:

• Main text

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: PS1: Pro117Ala

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.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: P117A

PubMed Link: 24377094

Variant Present in the following documents:

• Main text

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Deposition of hyperphosphorylated tau in cerebellum of PS1 E280A Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)

Sepulveda-Falla, Diego D; Matschke, Jakob J; Bernreuther, Christian C; Hagel, Christian C; Puig, Berta B; Villegas, Andres A; Garcia, Gloria G; Zea, Julian J; Gomez-Mancilla, Baltazar B; Ferrer, Isidre I; Lopera, Francisco F; Glatzel, Markus M

Publication Date: 2011-07

Variant appearance in text: PS1: P117A

PubMed Link: 21159009

Variant Present in the following documents:

• Main text

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Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life.

Neuroscience Letters

Kauwe, John S K JS; Wang, Jun J; Chakraverty, Sumi S; Goate, Alison M AM; Henao-Martinez, Andres F AF

Publication Date: 2008-06-20

Variant appearance in text: PSEN1: P117A

PubMed Link: 18479822

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation.

Journal Of Neurology, Neurosurgery, And Psychiatry

Anheim, M M; Hannequin, D D; Boulay, C C; Martin, C C; Campion, D D; Tranchant, C C

Publication Date: 2007-12

Variant appearance in text: PSEN1: Pro117Ala

PubMed Link: 18024701

Variant Present in the following documents:

• Main text

View BVdb publication page

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