Publications:

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A New Presenilin 1 (Psen1) Mutation (p.Cys263Trp) as a Cause of Both Early and Late-Onset Alzheimer's Disease in a Large Italian Family.

International Journal Of Molecular Sciences

Tortelli, Rosanna R; Seripa, Davide D; Zecca, Chiara C; Dell'Abate, Maria Teresa MT; Bisceglia, Paola P; Barulli, Maria Rosaria MR; De Blasi, Roberto R; Logroscino, Giancarlo G

Publication Date: 2021-06-09

Variant appearance in text: PSEN1: L248P

PubMed Link: 34207526

Variant Present in the following documents:

• Main text
• ijms-22-06215.pdf

View BVdb publication page

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Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer's Disease on the Orthosteric Site.

Frontiers In Molecular Biosciences

Soto-Ospina, Alejandro A; Araque Marín, Pedronel P; Bedoya, Gabriel G; Sepulveda-Falla, Diego D; Villegas Lanau, Andrés A

Publication Date: 2021

Variant appearance in text: PS1: Leu248Pro

PubMed Link: 34150846

Variant Present in the following documents:

• Main text
• fmolb-08-649990.pdf

View BVdb publication page

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Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Molecular Genetics & Genomic Medicine

Qin, Qi Q; Yin, Yunsi Y; Wang, Yan Y; Lu, Yuanyuan Y; Tang, Yi Y; Jia, Jianping J

Publication Date: 2020-10

Variant appearance in text: PSEN1: 743T>C

PubMed Link: 32767553

Variant Present in the following documents:

• Main text
• MGG3-8-e1443.pdf

View BVdb publication page

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The Genetics of Alzheimer's Disease in the Chinese Population.

International Journal Of Molecular Sciences

Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH

Publication Date: 2020-03-30

Variant appearance in text: PSEN1: L248P

PubMed Link: 32235595

Variant Present in the following documents:

• Main text

View BVdb publication page

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APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-09-25

Variant appearance in text: PSEN1: Leu248Pro

PubMed Link: 31557888

Variant Present in the following documents:

• Main text
• ijms-20-04757.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: L248P

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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A genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease.

Clinical Interventions In Aging

An, Seong Soo SS; Park, Sun Ah SA; Bagyinszky, Eva E; Bae, Sun Oh SO; Kim, Yoon-Jeong YJ; Im, Ji Young JY; Park, Kyung Won KW; Park, Kee Hyung KH; Kim, Eun-Joo EJ; Jeong, Jee Hyang JH; Kim, Jong Hun JH; Han, Hyun Jeong HJ; Choi, Seong Hye SH; Kim, SangYun S

Publication Date: 2016

Variant appearance in text: PSEN1: L248P

PubMed Link: 28008242

Variant Present in the following documents:

• Main text
• cia-11-1817.pdf

View BVdb publication page

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Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2016

Variant appearance in text: PSEN1: Leu248Pro

PubMed Link: 27799753

Variant Present in the following documents:

• Main text
• cia-11-1467.pdf

View BVdb publication page

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