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RNA Binding Proteins and the Pathogenesis of Frontotemporal Lobar Degeneration
Abstract
Frontotemporal dementia is a group of early onset dementia syndromes linked to underlying frontotemporal lobar degeneration (FTLD) pathology that can be classified based on the formation of abnormal protein aggregates involving tau and two RNA binding proteins, TDP-43 and FUS. Although elucidation of the mechanisms leading to FTLD pathology is in progress, recent advances in genetics and neuropathology indicate that a majority of FTLD cases with proteinopathy involving RNA binding proteins show highly congruent genotype–phenotype correlations. Specifically, recent studies have uncovered the unique properties of the low-complexity domains in RNA binding proteins that can facilitate liquid–liquid phase separation in the formation of membraneless organelles. Furthermore, there is compelling evidence that mutations in FTLD genes lead to dysfunction in diverse cellular pathways that converge on the endolysosomal pathway, autophagy, and neuroinflammation. Together, these results provide key mechanistic insights into the pathogenesis and potential therapeutic targets of FTLD.
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“RBPs themselves can be causal factors in neurodegenerative diseases 18,19 .”
From Tau is an m 6 A-associated RNA binding protein that causes RNA dysregulation in disease (2026) · cites this paper as [19]
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Cited by
Frontotemporal lobar degeneration
Grossman, M., Seeley, W. W., Boxer, A. L., Hillis, A. E., Knopman, D. S., Ljubenov, P. A., Miller, B., Piguet, O., Rademakers, R., Whitwell, J. L., et al. (2023) · Nature Reviews Disease Primers · doi:10.1038/s41572-023-00447-0 · Cited by 178
Self-citationGalectin-3, a rising star in modulating microglia activation under conditions of neurodegeneration
García-Revilla, J., Boza-Serrano, A., Espinosa-Oliva, A. M., Soto, M. S., Deierborg, T., Ruiz, R., de Pablos, R. M., Burguillos, M. A., & Venero, J. L. (2022) · Cell Death & Disease · doi:10.1038/s41419-022-05058-3 · Cited by 156
Tau is an m 6 A-associated RNA binding protein that causes RNA dysregulation in disease
Dixon, G., Keys, A., Rothamel, K., McKetney, J., Jiang, Y. X., Gordon, L. A., Page, M. L., Liu, C., Hou, K., Flanagan, K., et al. (2026) · doi:10.64898/2026.10.26.762095
Metadata
- Authors
- Hofmann, J. W., Seeley, W. W., & Huang, E. J.
- Venue
- Annual Review of Pathology: Mechanisms of Disease
- Publisher
- Annual Reviews
- Published
- 2019-01-24
- Volume
- 14
- Issue
- 1
- Pages
- 469-495
- ISSN
- 1553-4006
- 1553-4014
- PMC
- PMC6731550
- Cited by
- 47
- References
- 37
- Language
- en
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