Publications:

---

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: Leu166Arg

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

View BVdb publication page

---

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: L166R; rs63750265

PubMed Link: 35752680

Variant Present in the following documents:

• Main text
• 10072_2022_Article_6168.pdf

View BVdb publication page

---

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: L166R

PubMed Link: 35365805

Variant Present in the following documents:

• Main text
• 41380_2022_Article_1518.pdf

View BVdb publication page

---

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: L166R

PubMed Link: 32477171

Variant Present in the following documents:

• Main text
• fpsyt-11-00347.pdf

View BVdb publication page

---

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: L166R

PubMed Link: 31391004

Variant Present in the following documents:

• Main text
• 12883_2019_Article_1419.pdf

View BVdb publication page

---

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: L166R

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

---

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: Leu166Arg

PubMed Link: 24880964

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: Leu166Arg

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

---

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: L166R

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

View BVdb publication page

---

Cerebral microbleeds in familial Alzheimer's disease.

Brain : A Journal Of Neurology

Ryan, Natalie S NS; Bastos-Leite, António J AJ; Rohrer, Jonathan D JD; Werring, David J DJ; Fox, Nick C NC; Rossor, Martin N MN; Schott, Jonathan M JM

Publication Date: 2012-01

Variant appearance in text: PSEN1: L166R

PubMed Link: 21685457

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.

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

Shen, Jie J; Kelleher, Raymond J RJ

Publication Date: 2007-01-09

Variant appearance in text: PS1: L166R

PubMed Link: 17197420

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production.

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

Moehlmann, Tobias T; Winkler, Edith E; Xia, Xuefeng X; Edbauer, Dieter D; Murrell, Jill J; Capell, Anja A; Kaether, Christoph C; Zheng, Hui H; Ghetti, Bernardino B; Haass, Christian C; Steiner, Harald H

Publication Date: 2002-06-11

Variant appearance in text: PS1: L166R

PubMed Link: 12048239

Variant Present in the following documents:

• Main text

View BVdb publication page

---