Publications:

---

Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer's disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations.

Frontiers In Aging Neuroscience

Liu, Yingzi Y; Xiao, Xuewen X; Liu, Hui H; Liao, Xinxin X; Zhou, Yafang Y; Weng, Ling L; Zhou, Lu L; Liu, Xixi X; Bi, Xiang-Yun XY; Xu, Tianyan T; Zhu, Yuan Y; Yang, Qijie Q; Zhang, Sizhe S; Hao, Xiaoli X; Zhang, Weiwei W; Wang, Junling J; Jiao, Bin B; Shen, Lu L

Publication Date: 2022

Variant appearance in text: APP: V715A

PubMed Link: 36313020

Variant Present in the following documents:

• Main text
• fnagi-14-1013295.pdf

View BVdb publication page

---

Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: APP: V715A

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

View BVdb publication page

---

Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: APP: V715A

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

View BVdb publication page

---

The protective mutation A673T in amyloid precursor protein gene decreases Aβ peptides production for 14 forms of Familial Alzheimer's Disease in SH-SY5Y cells.

Plos One

Guyon, Antoine A; Rousseau, Joël J; Lamothe, Gabriel G; Tremblay, Jacques P JP

Publication Date: 2020

Variant appearance in text: APP: V715A

PubMed Link: 33370284

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Comprehensive Review on Alzheimer's Disease: Causes and Treatment.

Molecules (Basel, Switzerland)

Breijyeh, Zeinab Z; Karaman, Rafik R

Publication Date: 2020-12-08

Variant appearance in text: APP: V715A

PubMed Link: 33302541

Variant Present in the following documents:

• Main text
• molecules-25-05789.pdf

View BVdb publication page

---

New Insights into the Molecular Bases of Familial Alzheimer's Disease.

Journal Of Personalized Medicine

D'Argenio, Valeria V; Sarnataro, Daniela D

Publication Date: 2020-04-19

Variant appearance in text: APP: V715A

PubMed Link: 32325882

Variant Present in the following documents:

• Main text
• jpm-10-00026.pdf

View BVdb publication page

---

The Alzheimer's Disease Amyloid-Beta Hypothesis in Cardiovascular Aging and Disease: JACC Focus Seminar.

Journal Of The American College Of Cardiology

Stakos, Dimitrios A DA; Stamatelopoulos, Kimon K; Bampatsias, Dimitrios D; Sachse, Marco M; Zormpas, Eleftherios E; Vlachogiannis, Nikolaos I NI; Tual-Chalot, Simon S; Stellos, Konstantinos K

Publication Date: 2020-03-03

Variant appearance in text: APP: V715A

PubMed Link: 32130931

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

Central and Peripheral Metabolic Defects Contribute to the Pathogenesis of Alzheimer's Disease: Targeting Mitochondria for Diagnosis and Prevention.

Antioxidants & Redox Signaling

Peng, Yunhua Y; Gao, Peipei P; Shi, Le L; Chen, Lei L; Liu, Jiankang J; Long, Jiangang J

Publication Date: 2020-06-01

Variant appearance in text: APP: V715A

PubMed Link: 32050773

Variant Present in the following documents:

• Main text

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: APP: V715A

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 5

View BVdb publication page

---

Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.

Aging And Disease

Bi, Christopher C; Bi, Stephanie S; Li, Bin B

Publication Date: 2019-04

Variant appearance in text: APP: V715A

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.pdf

View BVdb publication page

---

Blood-Brain Barrier: From Physiology to Disease and Back.

Physiological Reviews

Sweeney, Melanie D MD; Zhao, Zhen Z; Montagne, Axel A; Nelson, Amy R AR; Zlokovic, Berislav V BV

Publication Date: 2019-01-01

Variant appearance in text: APP: V715A

PubMed Link: 30280653

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The genes associated with early-onset Alzheimer's disease.

Oncotarget

Dai, Meng-Hui MH; Zheng, Hui H; Zeng, Ling-Dan LD; Zhang, Yan Y

Publication Date: 2018-03-13

Variant appearance in text: APP: V715A

PubMed Link: 29599933

Variant Present in the following documents:

• Main text
• oncotarget-09-15132.pdf

View BVdb publication page

---

Alzheimer's Disease: From Genetic Variants to the Distinct Pathological Mechanisms.

Frontiers In Molecular Neuroscience

Sun, Qiying Q; Xie, Nina N; Tang, Beisha B; Li, Rena R; Shen, Yong Y

Publication Date: 2017

Variant appearance in text: APP: V715A

PubMed Link: 29056900

Variant Present in the following documents:

• fnmol-10-00319.pdf

View BVdb publication page

---

Alzheimer's disease-associated mutations increase amyloid precursor protein resistance to γ-secretase cleavage and the Aβ42/Aβ40 ratio.

Cell Discovery

Xu, Ting-Hai TH; Yan, Yan Y; Kang, Yanyong Y; Jiang, Yi Y; Melcher, Karsten K; Xu, H Eric HE

Publication Date: 2016

Variant appearance in text: APP: V715A

PubMed Link: 27625790

Variant Present in the following documents:

• celldisc201626-s1.pdf

View BVdb publication page

---

Genomics of Alzheimer Disease: A Review.

Jama Neurology

Rosenberg, Roger N RN; Lambracht-Washington, Doris D; Yu, Gang G; Xia, Weiming W

Publication Date: 2016-07-01

Variant appearance in text: APP: V715A

PubMed Link: 27135718

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Unfolded Protein Response and PERK Kinase as a New Therapeutic Target in the Pathogenesis of Alzheimer's Disease.

Current Medicinal Chemistry

Rozpedek, Wioletta W; Markiewicz, Lukasz L; Diehl, J Alan JA; Pytel, Dariusz D; Majsterek, Ireneusz I

Publication Date: 2015

Variant appearance in text: APP: V715A

PubMed Link: 26282939

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Molecular mechanism of the intramembrane cleavage of the β-carboxyl terminal fragment of amyloid precursor protein by γ-secretase.

Frontiers In Physiology

Morishima-Kawashima, Maho M

Publication Date: 2014

Variant appearance in text: APP: V715A

PubMed Link: 25505888

Variant Present in the following documents:

• Main text
• fphys-05-00463.pdf

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: APP: Val715Ala

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

---

Early onset Alzheimer's disease and oxidative stress.

Oxidative Medicine And Cellular Longevity

Meraz-Ríos, Marco Antonio MA; Franco-Bocanegra, Diana D; Toral Rios, Danira D; Campos-Peña, Victoria V

Publication Date: 2014

Variant appearance in text: APP: V715A

PubMed Link: 24669286

Variant Present in the following documents:

• Main text
• OMCL2014-375968.pdf

View BVdb publication page

---

Comparable dimerization found in wildtype and familial Alzheimer's disease amyloid precursor protein mutants.

American Journal Of Neurodegenerative Disease

So, Pauline Pl PP; Khodr, Christina E CE; Chen, Ci-Di CD; Abraham, Carmela R CR

Publication Date: 2013

Variant appearance in text: APP: V715A

PubMed Link: 23515184

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Molecular consequences of amyloid precursor protein and presenilin mutations causing autosomal-dominant Alzheimer's disease.

Alzheimer'S Research & Therapy

Weggen, Sascha S; Beher, Dirk D

Publication Date: 2012-03-30

Variant appearance in text: APP: V715A

PubMed Link: 22494386

Variant Present in the following documents:

• Main text
• alzrt107.pdf

View BVdb publication page

---

Structural studies of the transmembrane C-terminal domain of the amyloid precursor protein (APP): does APP function as a cholesterol sensor?

Biochemistry

Beel, Andrew J AJ; Mobley, Charles K CK; Kim, Hak Jun HJ; Tian, Fang F; Hadziselimovic, Arina A; Jap, Bing B; Prestegard, James H JH; Sanders, Charles R CR

Publication Date: 2008-09-09

Variant appearance in text: APP: Val715Ala

PubMed Link: 18702528

Variant Present in the following documents:

• Main text

View BVdb publication page

---