The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17
Open accessAbstract
Coding region and intronic mutations in the tau gene cause frontotemporal dementia and parkinsonism linked to chromosome 17. Intronic mutations and some missense mutations increase splicing in of exon 10, leading to an increased ratio of four-repeat to three-repeat tau isoforms. Secondary structure predictions have led to the proposal that intronic mutations and one missense mutation destabilize a putative RNA stem-loop structure located close to the splice-donor site of the intron after exon 10. We have determined the three-dimensional structure of this tau exon 10 splicing regulatory element RNA by NMR spectroscopy. We show that it forms a stable, folded stem-loop structure whose thermodynamic stability is reduced by frontotemporal dementia and parkinsonism linked to chromosome 17 mutations and increased by compensatory mutations. By exon trapping, the reduction in thermodynamic stability is correlated with increased splicing in of exon 10.
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Amyloid oligomers exacerbate tau pathology in a mouse model of tauopathy
Selenica, M.-L. B., Brownlow, M., Jimenez, J. P., Lee, D. C., Pena, G., Dickey, C. A., Gordon, M. N., & Morgan, D. (2013) · Neurodegenerative Diseases · doi:10.1159/000337230 · Cited by 10,359
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
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Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
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Self-citationTau is a candidate gene for chromosome 17 frontotemporal dementia
Poorkaj, P., Bird, T. D., Wijsman, E., Nemens, E., Garruto, R. M., Anderson, L., Andreadis, A., Wiederholt, W. C., Raskind, M., & Schellenberg, G. D. (1998) · Annals of Neurology · doi:10.1002/ana.410430617 · Cited by 1,374
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Self-citationDomains of tau Protein and Interactions with Microtubules
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Frontotemporal Dementia and Corticobasal Degeneration in a Family with a P301S Mutation in Tau
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Self-citationGoode, B., & Feinstein, S. (1994) · The Journal of cell biology · doi:10.1083/jcb.124.5.769 · Cited by 399
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Cited by
The molecular pathology of Alzheimer's disease
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Self-citationListening to silence and understanding nonsense: exonic mutations that affect splicing
Cartegni, L., Chew, S. L., & Krainer, A. R. (2002) · Nature Reviews Genetics · doi:10.1038/nrg775 · Cited by 2,209
Function of alternative splicing
Stamm, S., Ben-Ari, S., Rafalska, I., Tang, Y., Zhang, Z., Toiber, D., Thanaraj, T. A., & Soreq, H. (2005) · Gene · doi:10.1016/j.gene.2004.10.022 · Cited by 1,377
Role of tau protein in both physiological and pathological conditions
AVILA, J., LUCAS, J. J., PÉREZ, M., & HERNÁNDEZ, F. (2004) · Physiological Reviews · doi:10.1152/physrev.00024.2003 · Cited by 1,005
Metadata
- Authors
- Varani, L., Hasegawa, M., Spillantini, M. G., Smith, M. J., Murrell, J. R., Ghetti, B., Klug, A., Goedert, M., & Varani, G.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1999-07-06
- Volume
- 96
- Issue
- 14
- Pages
- 8229-8234
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1970634015
- Cited by
- 247
- References
- 9
- FWCI
- 10.55
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. https://app.cochat.ai/papers/10.1073/pnas.96.14.8229
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- Varani, L., Hasegawa, M., Spillantini, M. G., Smith, M. J., Murrell, J. R., Ghetti, B., Klug, A., Goedert, M., & Varani, G. (1999). Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.96.14.8229
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