ArticleBMC neurology2014
Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural prediction.
Article in BMC neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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The trial behind it
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
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.Clinical interventions in aging · 2015Pooled it
- Identification and characterization of variants in PSEN1, PSEN2, and APP genes in Chinese patients with early-onset Alzheimer's disease.Alzheimer's research & therapy · 2025Article
- Genetic and epigenetic targets of natural dietary compounds as anti-Alzheimer's agents.Neural regeneration research · 2024Review
- Case report: Double mutations in a patient with early-onset Alzheimer's disease in China, PSEN2 and IDE variants.Frontiers in neuroscience · 2024Article
- Orchestration of Genetic Alterations inGlobal medical genetics · 2024Article
- PSEN2 and ABCA7 variants causing early-onset preclinical pathological changes in Alzheimer's disease: a case report and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Review
- Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease.Frontiers in neurology · 2023Article
- Exploring the Role of PSEN Mutations in the Pathogenesis of Alzheimer's Disease.Neurotoxicity research · 2020Review
- Perspectives on ethnic and racial disparities in Alzheimer's disease and related dementias: Update and areas of immediate need.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2019Article
- The Whole Exome Sequencing Clarifies the Genotype- Phenotype Correlations in Patients with Early-Onset Dementia.Aging and disease · 2018Article
- The genes associated with early-onset Alzheimer's disease.Oncotarget · 2018Review
- A pathogenicClinical interventions in aging · 2018Article
- A case of possibly pathogenicClinical interventions in aging · 2017Article
- A genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease.Clinical interventions in aging · 2016Article
- Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.Clinical interventions in aging · 2016Review
- PSEN1 L226F mutation in a patient with early-onset Alzheimer's disease in Korea.Clinical interventions in aging · 2016Article
- Case Report of a 63-Year-Old Patient With Alzheimer Disease and a Novel Presenilin 2 Mutation.Alzheimer disease and associated disordersArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPSEN2 mutations are rare variants, and fewer than 30 different PSEN2 mutations have been found. So far, it has not been reported in Asia. CASE PRESENTATION: PSEN2 mutation at codon 214 for predicting a valine to leucine substitution was found in a 70-year-old woman, who showed a dementia of the Alzheimer type. We did not find the mutation in 614 control chromosomes. We also predicted the structures of presenilin 2 protein with native Val 214 residue and Leu 214 mutation, which revealed significant structural changes in the region.
conclusionIt could be a novel mutation verified with structural prediction in a patient with Alzheimer's disease.
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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.