ArticleAmerican journal of human genetics2006
Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers.
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Who cites it
81 citing papers in PubMed, 186 citations in OpenAlex.
- (Alzheimer's) dementia in adults with Down syndrome in Germany: Administrative prevalence based on a claims data analysis.Journal of Alzheimer's disease : JAD · 2026Article
- Cyclosporine A Modulates Neuroinflammation-Related Gene Expression Associated with Alzheimer's Disease in SH-SY5Y Neuronal Cell Line: Is Cyclosporine A Beneficial/Detrimental?Biochemical genetics · 2026Article
- What Can We Learn About Alzheimer's Disease from People with Down Syndrome?Current topics in behavioral neurosciences · 2025Review
- Kv3.3 Expression Enhanced by a Novel Variant in the Kozak Sequence ofInternational journal of molecular sciences · 2024Article
- APP antisense oligonucleotides reduce amyloid-β aggregation and rescue endolysosomal dysfunction in Alzheimer's disease.Brain : a journal of neurology · 2024Article
- PARP16-Mediated Stabilization of Amyloid Precursor Protein mRNA Exacerbates Alzheimer's Disease Pathogenesis.Aging and disease · 2023Article
- Association of APP gene polymorphisms and promoter methylation with essential hypertension in Guizhou: a case-control study.Human genomics · 2023Article
- Article
- The amyloid precursor protein: a converging point in Alzheimer's disease.Molecular neurobiology · 2022Review
- Neurogenetic disorders across the lifespan: from aberrant development to degeneration.Nature reviews. Neurology · 2022Review
- Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations.International journal of molecular sciences · 2021Review
- An integrative proteomics method identifies a regulator of translation during stem cell maintenance and differentiation.Nature communications · 2021Article
- A Rare Variation in the 3' Untranslated Region of the Presenilin 2 Gene Is Linked to Alzheimer's Disease.Molecular neurobiology · 2021Article
- MiR-147: Functions and Implications in Inflammation and Diseases.MicroRNA (Shariqah, United Arab Emirates) · 2021Review
- Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants.Alzheimer's & dementia (Amsterdam, Netherlands) · 2021Review
- miR760 regulates ATXN1 levels via interaction with its 5' untranslated region.Genes & development · 2020Article
- Iron-responsive-like elements and neurodegenerative ferroptosis.Learning & memory (Cold Spring Harbor, N.Y.) · 2020Review
- Relationship between single nucleotide polymorphisms in the 3'UTR of amyloid precursor protein and risk of Alzheimer's disease and its mechanism.Bioscience reports · 2019Article
- Silymarin's Inhibition and Treatment Effects for Alzheimer's Disease.Molecules (Basel, Switzerland) · 2019Review
- Targeting the Iron-Response Elements of the mRNAs for the Alzheimer's Amyloid Precursor Protein and Ferritin to Treat Acute Lead and Manganese Neurotoxicity.International journal of molecular sciences · 2019Review
21 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic variations in promoter sequences that alter gene expression play a prominent role in increasing susceptibility to complex diseases. Also, expression levels of APP are essentially regulated by its core promoter and 5' upstream regulatory region and correlate with amyloid beta levels in Alzheimer disease (AD) brains. Here, we systematically sequenced the proximal promoter (-766/+204) and two functional distal regions (-2634/-2159 and -2096/-1563) of APP in two independent AD series with onset ages < or =70 years (Belgian sample, n=180; Dutch sample, n=111) and identified eight novel sequence variants. Three mutations (-118C-->A, -369C-->G, and -534G-->A) identified only in patients with AD showed, in vitro, a nearly twofold neuron-specific increase in APP transcriptional activity, similar to what is expected from triplication of APP in Down syndrome. These mutations either abolished (AP-2 and HES-1) or created (Oct1) transcription-factor binding sites involved in the development and differentiation of neuronal systems. Also, two of these clustered in the 200-bp region (-540/-340) of the APP promoter that showed the highest degree of species conservation. The present study provides evidence that APP-promoter mutations that significantly increase APP expression levels are associated with AD.
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