Two Novel Mutations and a de novo Mutation in PSEN1 in Early-onset Alzheimer’s Disease-Reference-Cited by-同舟云学术

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Two Novel Mutations and a de novo Mutation in PSEN1 in Early-onset Alzheimer’s Disease

Published:2019 Issue:4 Volume:10 Page:908
ISSN:2152-5250
Container-title:Aging and disease
language:en
Short-container-title:Aging and disease

Author:

Li Yu-Sheng,Yang Zhi-Hua,Zhang Yao,Yang Jing,Shang Dan-Dan,Zhang Shu-Yu,Wu Jun,Ji Yan,Zhao Lu,Shi Chang-He,Xu Yu-Ming

Publisher

Aging and Disease

Subject

Cell Biology,Clinical Neurology,Geriatrics and Gerontology,Pathology and Forensic Medicine

Link

http://www.aginganddisease.org/fileup/2152-5250/PDF/ad-0-0-0-1811230138-1.pdf

Reference35 articles.

1. Robinson M, Lee BY, Hanes FT (2018). Recent Progress in Alzheimer's Disease Research, Part 2: Genetics and Epidemiology. J Alzheimers Dis, 61: 459.

2. Koedam EL, Lauffer V, van der Vlies AE, van der Flier WM, Scheltens P, Pijnenburg YA (2010). Early-versus late-onset Alzheimer's disease: more than age alone. J Alzheimers Dis, 19: 1401-1408.

3. Bagyinszky E, Youn YC, An SS, Kim S (2014). The genetics of Alzheimer's disease. Clin Interv Aging, 9: 535-551.

4. Cacace R, Sleegers K, Van Broeckhoven C (2016). Molecular genetics of early-onset Alzheimer's disease revisited. Alzheimers Dement, 12: 733-748.

5. Lou F, Luo X, Li M, Ren Y, He Z (2017). Very early-onset sporadic Alzheimer's disease with a de novo mutation in the PSEN1 gene. Neurobiol Aging, 53: 193 e191-193 e195.

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1. Engineered Exosomes Containing microRNA-29b-2 and Targeting the Somatostatin Receptor Reduce Presenilin 1 Expression and Decrease the β-Amyloid Accumulation in the Brains of Mice with Alzheimer’s Disease;International Journal of Nanomedicine;2024-05

2. Penthorum chinense Pursh inhibits ferroptosis in cellular and Caenorhabditis elegans models of Alzheimerʼs disease;Phytomedicine;2024-05

3. PSEN1 His214Asn Mutation in a Korean Patient with Familial EOAD and the Importance of Histidine–Tryptophan Interactions in TM-4 Stability;International Journal of Molecular Sciences;2023-12-21

4. Elucidating the Protonation State of the γ-Secretase Catalytic Dyad;ACS Chemical Neuroscience;2022-12-23

5. Early‐Onset Dementia‐Parkinsonism with Rapid Development of Motor Fluctuations and Dyskinesia Due to PSEN1 G206V Pathogenic Variant;Movement Disorders Clinical Practice;2022-11-22

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