Publications:

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Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.

Translational Psychiatry

Kakuda, Nobuto N; Takami, Mako M; Okochi, Masayasu M; Kasuga, Kensaku K; Ihara, Yasuo Y; Ikeuchi, Takeshi T

Publication Date: 2021-11-03

Variant appearance in text: PS1: A409T

PubMed Link: 34728605

Variant Present in the following documents:

• 41398_2021_Article_1684.pdf

View BVdb publication page

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Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.

Translational Psychiatry

Kakuda, Nobuto N; Takami, Mako M; Okochi, Masayasu M; Kasuga, Kensaku K; Ihara, Yasuo Y; Ikeuchi, Takeshi T

Publication Date: 2021-11-03

Variant appearance in text: PS1: A409T

PubMed Link: 34728605

Variant Present in the following documents:

• 41398_2021_Article_1684.pdf

View BVdb publication page

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Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines.

Human Mutation

Andersson, Nadine G NG; Labarque, Veerle V; Letelier, Anna A; Mancuso, Maria Elisa ME; Bührlen, Martina M; Fischer, Kathelijn K; Kartal-Kaess, Mutlu M; Koskenvuo, Minna M; Mikkelsen, Torben T; Ljung, Rolf R; ,

Publication Date: 2020-12

Variant appearance in text: PS1: 1225G>A

PubMed Link: 32935414

Variant Present in the following documents:

• Main text

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Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.

Plos Genetics

Fernández, Maria Victoria MV; Kim, Jong Hun JH; Budde, John P JP; Black, Kathleen K; Medvedeva, Alexandra A; Saef, Ben B; Deming, Yuetiva Y; Del-Aguila, Jorge J; Ibañez, Laura L; Dube, Umber U; Harari, Oscar O; Norton, Joanne J; Chasse, Rachel R; Morris, John C JC; Goate, Alison A; , ; , ; Cruchaga, Carlos C

Publication Date: 2017-11

Variant appearance in text: PSEN1: Ala409Thr

PubMed Link: 29091718

Variant Present in the following documents:

• Main text
• pgen.1007045.pdf

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Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

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

Sun, Linfeng L; Zhou, Rui R; Yang, Guanghui G; Shi, Yigong Y

Publication Date: 2017-01-24

Variant appearance in text: PS1: A409T

PubMed Link: 27930341

Variant Present in the following documents:

• Main text

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Presenilin transmembrane domain 8 conserved AXXXAXXXG motifs are required for the activity of the γ-secretase complex.

The Journal Of Biological Chemistry

Marinangeli, Claudia C; Tasiaux, Bernadette B; Opsomer, Rémi R; Hage, Salim S; Sodero, Alejandro O AO; Dewachter, Ilse I; Octave, Jean Noël JN; Smith, Steven O SO; Constantinescu, Stefan N SN; Kienlen-Campard, Pascal P

Publication Date: 2015-03-13

Variant appearance in text: PS1: A409T

PubMed Link: 25614624

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: Ala409Thr

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Using a genetically targeted sensor to investigate the role of presenilin-1 in ER Ca2+ levels and dynamics.

Molecular Biosystems

McCombs, Janet E JE; Gibson, Emily A EA; Palmer, Amy E AE

Publication Date: 2010-09

Variant appearance in text: PS1: A409T

PubMed Link: 20379593

Variant Present in the following documents:

• Main text

View BVdb publication page

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