ArticleGene2010
Heterogeneous nuclear ribonucleoprotein E3 modestly activates splicing of tau exon 10 via its proximal downstream intron, a hotspot for frontotemporal dementia mutations.
Article in Gene, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 25 citations in OpenAlex.
- HuR modulates disease-relevant alternative splicing of MAPT and other Alzheimer's disease-related genes.Molecular genetics and genomics : MGG · 2026Article
- The Determinant of Tau Spreading in Alzheimer's Disease: Dependent on Senile Plaque, Neural Circuits, or Spatial Proximity?International journal of molecular sciences · 2025Review
- Distinct CSF biomarker-associated DNA methylation in Alzheimer's disease and cognitively normal subjects.Alzheimer's research & therapy · 2023Article
- Distinct CSF biomarker-associated DNA methylation in Alzheimer's disease and cognitively normal subjects.Research square · 2023Article
- Article
- Dysregulated coordination of MAPT exon 2 and exon 10 splicing underlies different tau pathologies in PSP and AD.Acta neuropathologica · 2022Article
- Autoimmune Mechanisms of Interferon Hypersensitivity and Neurodegenerative Diseases: Down Syndrome.Autoimmune diseases · 2020Article
- Tau mis-splicing in the pathogenesis of neurodegenerative disorders.BMB reports · 2016Review
- Alzheimer disease therapeutics: focus on the disease and not just plaques and tangles.Biochemical pharmacology · 2014Review
- Regulation of alternative splicing of tau exon 10.Neuroscience bulletin · 2014Review
- Linking spermatid ribonucleic acid (RNA) binding protein and retrogene diversity to reproductive success.Molecular & cellular proteomics : MCP · 2013Article
- Article
- Tau splicing and the intricacies of dementia.Journal of cellular physiology · 2012Review
- PSF suppresses tau exon 10 inclusion by interacting with a stem-loop structure downstream of exon 10.Journal of molecular neuroscience : MN · 2011Article
- Article
- Tau pathology: predictive diagnostics, targeted preventive and personalized medicine and application of advanced research in medical practice.The EPMA journal · 2010Article
- Down syndrome and the molecular pathogenesis resulting from trisomy of human chromosome 21.Journal of biomedical research · 2010Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
The microtubule-associated protein tau is important to normal neuronal activity in the mammalian nervous system. Aggregated tau is the major component of neurofibrillary tangles (NFTs), structures present in the brains of people affected by neurodegenerative diseases called tauopathies. Tauopathies include Alzheimer's disease (AD), frontotemporal dementia with Parkinsonism (FTDP) and the early-onset dementia observed in Down syndrome (DS; trisomy 21). Splicing misregulation of adult-specific exon 10 results in expression of abnormal ratios of tau isoforms, leading to FTDP. Positions +3 to +19 of the intron downstream of exon 10 define a hotspot: Point mutations in it result in tauopathies. All these mutations increase exon 10 inclusion except for mutation +19, which almost entirely excludes exon 10. To investigate the tau connection between DS and AD, we examined splicing factors located on chromosome 21 for their effect on tau exon 10. By co-transfections, co-immunoprecipitations and RNAi constructs, we discovered that one of them, hnRNPE3 (PCBP3), modestly activates splicing of exon 10 by interacting with its proximal downstream intron around position +19. These results, coupled with the developmental profile of hnRNPE3, suggest a pathogenic role for splicing factors on chromosome 21 in neurodegenerative diseases with tangles and create a connection between tau splicing and the early-onset dementia of Down syndrome.
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Registered trials
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.