The DOI matches its Crossref record; 301 of the 301 references it cites were found in a registry or an index.
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
Open accessAbstract
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are neurodegenerative diseases with clinical and pathological overlap. Landmark discoveries of mutations in the transactive response DNA-binding protein (TDP-43) and fused in sarcoma/translocated in liposarcoma (FUS/TLS) as causative of ALS and FTLD, combined with the abnormal aggregation of these proteins, have initiated a shifting paradigm for the underlying pathogenesis of multiple neurodegenerative diseases. TDP-43 and FUS/TLS are both RNA/DNA-binding proteins with striking structural and functional similarities. Their association with ALS and other neurodegenerative diseases is redirecting research efforts toward understanding the role of RNA processing regulation in neurodegeneration.
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“TDP43 affects multiple steps of RNA metabolism, including transcription, splicing, decay, transport and translation162”
From The neurogenetics of alternative splicing (2016) · cites this paper as [162]
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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
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Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis
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Self-citationA large-scale binding and functional map of human RNA-binding proteins
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Metadata
- Authors
- Lagier-Tourenne, C., Polymenidou, M., & Cleveland, D. W.
- Affiliations
- University of California San Diego (US)
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2010-04-15
- Volume
- 19
- Issue
- R1
- Pages
- R46-R64
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC3167692
- OpenAlex
- W2126569879
- Cited by
- 1,021
- References
- 301
- Citations by year
- 2026: 38 · 2025: 45 · 2024: 51 · 2023: 59 · 2022: 53 · 2021: 59 · 2020: 68 · 2019: 58 · 2018: 66 · 2017: 60 · 2016: 55 · 2015: 68 · 2014: 61 · 2013: 64 · 2012: 106
- FWCI
- 11.19
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Human Molecular Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Ludwig Institute for Cancer Research
- Wellcome Trust (089701)
- National Institute of Neurological Disorders and Stroke (R37NS027036)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- TDP-43, FUS/TLS, amyotrophic lateral sclerosis, frontotemporal lobar degeneration, RNA processing, neurodegeneration, RNA-binding proteins, protein aggregation, genetic mutations
- MeSH terms
- Amyotrophic Lateral Sclerosis, Biological Transport, DNA-Binding Proteins, Humans, RNA Processing, Post-Transcriptional, Subcellular Fractions, RNA-Binding Protein FUS, Frontotemporal Lobar Degeneration
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