ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2007
The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 74 citations in OpenAlex.
- Review
- Tauopathy strains differentially replicate in vitro in the presence of mutant tau monomer.Neurobiology of disease · 2025Article
- Cellular and pathological functions of tau.Nature reviews. Molecular cell biology · 2024Review
- Arterial spin labeling demonstrates preserved regional cerebral blood flow in the P301L mouse model of tauopathy.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2022Article
- Astrocytes in Neurodegenerative Diseases: A Perspective from Tauopathy and α-Synucleinopathy.Life (Basel, Switzerland) · 2021Review
- Cellular and pathological heterogeneity of primary tauopathies.Molecular neurodegeneration · 2021Review
- Human Induced Pluripotent Stem Cell Models of Frontotemporal Dementia With Tau Pathology.Frontiers in cell and developmental biology · 2021Review
- Human iPSC application in Alzheimer's disease and Tau-related neurodegenerative diseases.Neuroscience letters · 2019Review
- Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment.Frontiers in cellular neuroscience · 2018Article
- Glial contributions to neurodegeneration in tauopathies.Molecular neurodegeneration · 2017Review
- Neuroprotective pentapeptide CN-105 is associated with reduced sterile inflammation and improved functional outcomes in a traumatic brain injury murine model.Scientific reports · 2017Article
- Increased 4R tau expression and behavioural changes in a novel MAPT-N296H genomic mouse model of tauopathy.Scientific reports · 2017Article
- Tau Isoforms Imbalance Impairs the Axonal Transport of the Amyloid Precursor Protein in Human Neurons.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Article
- Tauopathy induced by low level expression of a human brain-derived tau fragment in mice is rescued by phenylbutyrate.Brain : a journal of neurology · 2016Article
- Article
- HIV-1-Tat Protein Inhibits SC35-mediated Tau Exon 10 Inclusion through Up-regulation of DYRK1A Kinase.The Journal of biological chemistry · 2015Article
- Closing the tau loop: the missing tau mutation.Brain : a journal of neurology · 2015Article
- Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.Nucleic acid therapeutics · 2014Review
- Splicing factor TRA2B is required for neural progenitor survival.The Journal of comparative neurology · 2014Article
- Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Intracellular tau deposits are characteristic of several neurodegenerative disorders called tauopathies. The tau protein regulates the stability and assembly of microtubules by binding to microtubules through three or four microtubule-binding repeats (3R and 4R). The number of microtubule-binding repeats is determined by the inclusion or exclusion of the second microtubule-binding repeat encoded by exon 10 of the TAU gene. TAU gene mutations that alter the inclusion of exon 10, and hence the 4R:3R ratio, are causal in the tauopathy frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). A mutation located in exon 10 has been identified in several FTDP-17 families that present with increased exon 10 inclusion in both mRNA and protein, parkinsonism, movement disorders, and dementia. We have engineered a human tau minigene construct that was designed to allow alternative splicing of the tau exon 10. Here we demonstrate that transgenic mice expressing human tau protein with this mutation develop neurodegeneration as result of aberrant splicing. The mice recapitulate many of the disease hallmarks that are seen in patients with this mutation, including increased tau exon 10 inclusion in both mRNA and protein, motor and behavioral deficits, and tau protein accumulation in neurons and tufted astrocytes. Furthermore, these mice present with degeneration of the nigrostriatal dopaminergic pathway, suggesting a possible mechanism for parkinsonism in FTDP-17. Additionally, activated caspase-3 immunoreactivity in both neurons and astrocytes implicates the involvement of the apoptotic pathway in the pathology of these mice.
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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.