Publications:

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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: M722K

PubMed Link: 36313020

Variant Present in the following documents:

• Main text
• fnagi-14-1013295.pdf

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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: M722K

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

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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: M722K

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

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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: M722K

PubMed Link: 33370284

Variant Present in the following documents:

• Main text
• pone.0237122.pdf

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Blood neuro-exosomal synaptic proteins predict Alzheimer's disease at the asymptomatic stage.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Jia, Longfei L; Zhu, Min M; Kong, Chaojun C; Pang, Yana Y; Zhang, Heng H; Qiu, Qiongqiong Q; Wei, Cuibai C; Tang, Yi Y; Wang, Qi Q; Li, Ying Y; Li, Tingting T; Li, Fangyu F; Wang, Qigeng Q; Li, Yan Y; Wei, Yiping Y; Jia, Jianping J

Publication Date: 2021-01

Variant appearance in text: APP: M722K

PubMed Link: 32776690

Variant Present in the following documents:

• ALZ-17-49.pdf

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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: APP: Met722Lys

PubMed Link: 32767553

Variant Present in the following documents:

• Main text

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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: APP: M722K

PubMed Link: 32235595

Variant Present in the following documents:

• Main text
• ijms-21-02381.pdf

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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: M722K

PubMed Link: 32050773

Variant Present in the following documents:

• Main text

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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: APP: M722K

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 5

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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: M722K

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.pdf

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The Early Events That Initiate β-Amyloid Aggregation in Alzheimer's Disease.

Frontiers In Aging Neuroscience

Zhang, Xingyu X; Fu, Zhihui Z; Meng, Lanxia L; He, Mingyang M; Zhang, Zhentao Z

Publication Date: 2018

Variant appearance in text: APP: M722K

PubMed Link: 30542277

Variant Present in the following documents:

• fnagi-10-00359.pdf

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