Publications:

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Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Frontiers In Aging Neuroscience

Bartoletti-Stella, Anna A; Tarozzi, Martina M; Mengozzi, Giacomo G; Asirelli, Francesca F; Brancaleoni, Laura L; Mometto, Nicola N; Stanzani-Maserati, Michelangelo M; Baiardi, Simone S; Linarello, Simona S; Spallazzi, Marco M; Pantieri, Roberta R; Ferriani, Elisa E; Caffarra, Paolo P; Liguori, Rocco R; Parchi, Piero P; Capellari, Sabina S

Publication Date: 2022

Variant appearance in text: PSEN1: 497T>A; Leu166His

PubMed Link: 36133075

Variant Present in the following documents:

• Main text

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Genetic landscape of early-onset dementia in Hungary.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology

Csaban, Dora D; Illes, Anett A; Renata, Toth-Bencsik TB; Balicza, Peter P; Pentelenyi, Klara K; Molnar, Viktor V; Gezsi, Andras A; Grosz, Zoltan Z; Gal, Aniko A; Kovacs, Tibor T; Klivenyi, Peter P; Molnar, Maria Judit MJ

Publication Date: 2022-09

Variant appearance in text: PSEN1: 497T>G; rs63750265

PubMed Link: 35752680

Variant Present in the following documents:

• Main text
• 10072_2022_Article_6168.pdf

View BVdb publication page

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A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.

Bmc Neurology

Van Giau, Vo V; Pyun, Jung-Min JM; Suh, Jeewon J; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, Sang Yun SY

Publication Date: 2019-08-07

Variant appearance in text: PSEN1: L166H

PubMed Link: 31391004

Variant Present in the following documents:

• Main text
• 12883_2019_Article_1419.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: L166H

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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Pathogenic variants that alter protein code often disrupt splicing.

Nature Genetics

Soemedi, Rachel R; Cygan, Kamil J KJ; Rhine, Christy L CL; Wang, Jing J; Bulacan, Charlston C; Yang, John J; Bayrak-Toydemir, Pinar P; McDonald, Jamie J; Fairbrother, William G WG

Publication Date: 2017-06

Variant appearance in text: PSEN1: 497T>A; L166*

PubMed Link: 28416821

Variant Present in the following documents:

• NIHMS861030-supplement-4.pdf

View BVdb publication page

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Suppressor Mutations for Presenilin 1 Familial Alzheimer Disease Mutants Modulate γ-Secretase Activities.

The Journal Of Biological Chemistry

Futai, Eugene E; Osawa, Satoko S; Cai, Tetsuo T; Fujisawa, Tomoya T; Ishiura, Shoichi S; Tomita, Taisuke T

Publication Date: 2016-01-01

Variant appearance in text: PS1: L166H

PubMed Link: 26559975

Variant Present in the following documents:

• Main text

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Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.

Neurobiology Of Aging

Sassi, Celeste C; Guerreiro, Rita R; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Chirstopher C; Lord, Jenny J; Turton, James J; Mann, David D; Snowden, Julie J; Neary, David D; Harris, Jeniffer J; Bras, Jose J; , ; Morgan, Kevin K; Powell, John F JF; Singleton, Andrew A; Hardy, John J

Publication Date: 2014-10

Variant appearance in text: PSEN1: L166H

PubMed Link: 24880964

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: L166H

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Abeta42-driven cerebral amyloidosis in transgenic mice reveals early and robust pathology.

Embo Reports

Radde, Rebecca R; Bolmont, Tristan T; Kaeser, Stephan A SA; Coomaraswamy, Janaky J; Lindau, Dennis D; Stoltze, Lars L; Calhoun, Michael E ME; Jäggi, Fabienne F; Wolburg, Hartwig H; Gengler, Simon S; Haass, Christian C; Ghetti, Bernardino B; Czech, Christian C; Hölscher, Christian C; Mathews, Paul M PM; Jucker, Mathias M

Publication Date: 2006-09

Variant appearance in text: PS1: L166H

PubMed Link: 16906128

Variant Present in the following documents:

• Main text

View BVdb publication page

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