Misregulated RNA processing in amyotrophic lateral sclerosis
Open accessAbstract
Amyotrophic lateral sclerosis (ALS) research is undergoing an era of unprecedented discoveries with the identification of new genes as major genetic causes of this disease. These discoveries reinforce the genetic, clinical and pathological overlap between ALS and frontotemporal lobar degeneration (FTLD). Common causes of these diseases include mutations in the RNA/DNA-binding proteins, TDP-43 and FUS/TLS and most recently, hexanucleotide expansions in the C9orf72 gene, discoveries that highlight the overlapping pathogenic mechanisms that trigger ALS and FTLD. TDP-43 and FUS/TLS, both of which participate in several steps of RNA processing, are abnormally aggregated and mislocalized in ALS and FTLD, while the expansion in the C9orf72 pre-mRNA strongly suggests sequestration of one or more RNA binding proteins in pathologic RNA foci. Hence, ALS and FTLD converge in pathogenic pathways disrupting the regulation of RNA processing. This article is part of a Special Issue entitled RNA-Binding Proteins.
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Disease changes can affect the activity or expression of RNA binding proteins, causing entire programs of alternative splicing to be misregulated.
“Other disease changes affect the activity or expression of RBPs, causing entire programs of AS to be misregulated.”
From A Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains (2014) · cites this paper as Polymenidou et al., 2012
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Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis
Ling, S.-C., Polymenidou, M., & Cleveland, D. W. (2013) · Neuron · doi:10.1016/j.neuron.2013.07.033 · Cited by 1,811 · see citing works
Self-citationA Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains
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“For example, amyotrophic lateral sclerosis-causing mutations in the RBPs TLS/FUS and TDP43 affect AS and other aspects of posttranscriptional regulation (Polymenidou et al., 2012), and changes in the expression of the RBP RBFOX1 have been linked to misregulation of AS in the brains of individuals with autism spectrum…”
BackgroundThe neurogenetics of alternative splicing
Vuong, C. K., Black, D. L., & Zheng, S. (2016) · Nature Reviews Neuroscience · doi:10.1038/nrn.2016.27 · Cited by 340 · see citing works
- Authors
- Polymenidou, M., Lagier-Tourenne, C., Hutt, K. R., Bennett, C. F., Cleveland, D. W., & Yeo, G. W.
- Affiliations
- University of California San Diego (US)
- Ionis Pharmaceuticals (United States) (US)
- Corresponding author
- Cleveland, Don W.
- Yeo, Gene W.
- Venue
- Brain Research
- Publisher
- Elsevier BV
- Published
- 2012-06
- Volume
- 1462
- Pages
- 3-15
- ISSN
- 0006-8993 (ISSN-L)
- PMC
- PMC3707312
- OpenAlex
- W2045708478
- Cited by
- 169
- References
- 161
- Citations by year
- 2026: 5 · 2025: 4 · 2024: 4 · 2023: 9 · 2022: 7 · 2021: 14 · 2020: 22 · 2019: 7 · 2018: 8 · 2017: 15 · 2016: 13 · 2015: 13 · 2014: 21 · 2013: 18 · 2012: 9
- FWCI
- 2.73
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Brain Research (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Human Frontier Science Program Organization
- Amyotrophic Lateral Sclerosis Association
- Muscular Dystrophy Association
- National Institute of Neurological Disorders and Stroke (K99NS075216, R37NS27036)
- National Institutes of Health (HG004659, GM084317)
- California Institute for Regenerative Medicine (RB1-01413)
- University of California, San Diego
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- amyotrophic lateral sclerosis, frontotemporal lobar degeneration, RNA processing, TDP-43, FUS/TLS, C9orf72 repeat expansion, RNA-binding proteins, protein aggregation, RNA foci, pre-mRNA
- MeSH terms
- Amyotrophic Lateral Sclerosis, Animals, DNA-Binding Proteins, Homeostasis, Humans, RNA, RNA-Binding Proteins, RNA-Binding Protein FUS, Frontotemporal Lobar Degeneration, TDP-43 Proteinopathies
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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