ArticleClinical interventions in aging2018
A pathogenic
Article in Clinical interventions in aging, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed, 18 citations in OpenAlex.
- Alzheimer's Disease: From Molecular Pathogenesis to Disease-Modifying Therapies and Clinical Implementation in Aging Populations.Clinical interventions in aging · 2026Review
- Article
- A scoping review of the unique landscape and challenges associated with dementia in the Western Pacific region.The Lancet regional health. Western Pacific · 2024Article
- Double Mutations in a Patient with Early-Onset Alzheimer's Disease in Korea: AnInternational journal of molecular sciences · 2023Article
- Cognitive- and memory-enhancing effects of Augmentin in Alzheimer's rats through regulation of gene expression and neuronal cell apoptosis.Frontiers in pharmacology · 2023Article
- Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease.Frontiers in neurology · 2023Article
- PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.International journal of molecular sciences · 2022Article
- Amyloid-beta peptide and tau protein crosstalk in Alzheimer's disease.Neural regeneration research · 2022Review
- Artificial Intelligence Predictor for Alzheimer's Disease Trained on Blood Transcriptome: The Role of Oxidative Stress.International journal of molecular sciences · 2022Article
- A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Article
- Potential Fluid Biomarkers for the Diagnosis of Mild Cognitive Impairment.International journal of molecular sciences · 2019Review
- A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.BMC neurology · 2019Article
- Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.Scientific reports · 2019Article
- Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.International journal of molecular sciences · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutosomal dominant early-onset Alzheimer's disease (EOAD) is genetically heterogeneous and has been associated with mutations in 3 different genes, coding for amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2). Most frequent cases are associated with mutations in the
methodsPatient who presented progressive memory decline in her 50s was enrolled in this study. A broad battery of neuropsychological tests and neuroimaging was applied to make the diagnosis. Genetic tests were performed in the patient to evaluate possible mutations using next-generation sequencing (NGS). The pathogenic nature of missense mutation and its 3D protein structure prediction were performed by in silico prediction programs.
resultsA pathogenic mutation in the PSEN2 gene in a Korean patient associated with EOAD was identified. Targeted Next-generation sequencing and Sanger sequencing revealed a heterozygous C to A transition at position 505 (c.505C>A), resulting in a probably missense mutation at codon 169 (p.His169Asn) in PSEN2. PolyPhen-2 and SIFT software analyses predicted this mutation to be a probable damaging variant. This hypothesis was supported by the results of 3D in silico modelling analyses that predicted the p.His169Asn may result in major helix torsion due to histidine to asparagine substitution. Mutation may cause additional stresses with hydrophobic residues on the surface that interact inside the transmembrane domain III, which is a conserved domain in PSEN2 His169.
conclusionThese findings revealed that the p.His169Asn might be an important residue in PSEN2, which may alter the functions of PSEN2, suggesting its potential involvement with AD phenotype. Future functional studies are needed to evaluate the role of PSEN2 p.His169Asn mutation in AD disease progression.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.