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: Ser132Ala

PubMed Link: 37176125

Variant Present in the following documents:

• Main text
• 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: Ser132Ala

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.

Molecular Psychiatry

Petit, Dieter D; Fernández, Sara Gutiérrez SG; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Ryan, Natalie S NS; O'Connor, Antoinette A; Szaruga, Maria M; Hill, Elizabeth E; Vandenberghe, Rik R; Fox, Nick C NC; Chávez-Gutiérrez, Lucía L

Publication Date: 2022-06

Variant appearance in text: PSEN1: S132A

PubMed Link: 35365805

Variant Present in the following documents:

• Main text
• 41380_2022_Article_1518.pdf

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Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)

Willumsen, Nanet N; Poole, Teresa T; Nicholas, Jennifer M JM; Fox, Nick C NC; Ryan, Natalie S NS; Lashley, Tammaryn T

Publication Date: 2022-05

Variant appearance in text: PSEN1: S132A

PubMed Link: 34319632

Variant Present in the following documents:

• Main text
• BPA-32-e13009.pdf

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Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer's Disease With Early Presentation of Behavioral Disturbance.

Frontiers In Psychiatry

Zhang, Shouzi S; Li, Xiang X; Zhang, Li L; Meng, Xiangyan X; Ma, Li L; Zhang, Guangze G; Wu, Haiyan H; Liang, Ling L; Cao, Meng M; Mei, Fan F

Publication Date: 2020

Variant appearance in text: PSEN1: S132A

PubMed Link: 32477171

Variant Present in the following documents:

• Main text
• fpsyt-11-00347.pdf

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Investigation of pathology, expression and proteomic profiles in human TREM2 variant postmortem brains with and without Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)

Toomey, Christina E CE; Heywood, Wendy W; Benson, Bridget C BC; Packham, Georgia G; Mills, Kevin K; Lashley, Tammaryn T

Publication Date: 2020-07

Variant appearance in text: PSEN1: S132A

PubMed Link: 32267026

Variant Present in the following documents:

• Main text
• BPA-30-794.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: S132A; rs200937800

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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The intact postsynaptic protein neurogranin is reduced in brain tissue from patients with familial and sporadic Alzheimer's disease.

Acta Neuropathologica

Kvartsberg, Hlin H; Lashley, Tammaryn T; Murray, Christina E CE; Brinkmalm, Gunnar G; Cullen, Nicholas C NC; Höglund, Kina K; Zetterberg, Henrik H; Blennow, Kaj K; Portelius, Erik E

Publication Date: 2019-01

Variant appearance in text: PSEN1: S132A

PubMed Link: 30244311

Variant Present in the following documents:

• Main text

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The presubiculum is preserved from neurodegenerative changes in Alzheimer's disease.

Acta Neuropathologica Communications

Murray, Christina E CE; Gami-Patel, Priya P; Gkanatsiou, Eleni E; Brinkmalm, Gunnar G; Portelius, Erik E; Wirths, Oliver O; Heywood, Wendy W; Blennow, Kaj K; Ghiso, Jorge J; Holton, Janice L JL; Mills, Kevin K; Zetterberg, Henrik H; Revesz, Tamas T; Lashley, Tammaryn T

Publication Date: 2018-07-20

Variant appearance in text: PS1: S132A

PubMed Link: 30029687

Variant Present in the following documents:

• Main text
• 40478_2018_Article_563.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: Ser132Ala

PubMed Link: 25217249

Variant Present in the following documents:

• Main text
• 11910_2014_Article_499.pdf

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