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TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Open accessAbstract
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder characterized pathologically by ubiquitinated TAR DNA binding protein (TDP-43) inclusions. The function of TDP-43 in the nervous system is uncertain, and a mechanistic role in neurodegeneration remains speculative. We identified neighboring mutations in a highly conserved region of TARDBP in sporadic and familial ALS cases. TARDBPM337V segregated with disease within one kindred and a genome-wide scan confirmed that linkage was restricted to chromosome 1p36, which contains the TARDBP locus. Mutant forms of TDP-43 fragmented in vitro more readily than wild type and, in vivo, caused neural apoptosis and developmental delay in the chick embryo. Our evidence suggests a pathophysiological link between TDP-43 and ALS.
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“Mutations in TARDBP, which encodes the transactive response DNA binding protein 43 kDa (TDP-43), are the third most common cause of familial autosomal dominant ALS and account for rare cases of sporadic ALS [290–293].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [291]
In the citing paper
“while mutations in TARDBP (encoding TAR DNA- binding protein 43 [TDP43])306 and FUS (encoding the fused in sarcoma protein) have a lower frequency (<5%).307”
From Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets (2023) · cites this paper as [306]
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“emphasizing that microglia in the late stage accelerate disease progression.”
From Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets (2023) · cites this paper as [306]
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“and mutations in TARDBP, the gene encoding TDP-43, have been identified in patients with ALS or FTD,306,333 indicating a mechanistic link between TDP-43 and ALS/FTD and also suggesting a common underlying mechanism”
From Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets (2023) · cites this paper as [306]
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“Reduced mutant levels in microglia did not have much effect on early disease progression, but substantially slowed it later on,306”
From Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets (2023) · cites this paper as [306]
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Metadata
- Authors
- Sreedharan, J., Blair, I. P., Tripathi, V. B., Hu, X., Vance, C., Rogelj, B., Ackerley, S., Durnall, J. C., Williams, K. L., Buratti, E., Baralle, F., de Belleroche, J., Mitchell, J. D., Leigh, P. N., Al-Chalabi, A., Miller, C. C., Nicholson, G., & Shaw, C. E.
- Affiliations
- The University of Sydney (AU)
- Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK.
- Corresponding author
- Sreedharan, Jemeen
- Blair, Ian P.
- Tripathi, Vineeta B.
- Nicholson, Garth
- Shaw, Christopher E.
- ORCID
- Venue
- Science
- Published
- 2008-03-21
- Volume
- 319
- Issue
- 5870
- Pages
- 1668-1672
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC7116650
- OpenAlex
- W1619082318
- Cited by
- 2,630
- References
- 29
- Citations by year
- 2026: 73 · 2025: 88 · 2024: 104 · 2023: 141 · 2022: 149 · 2021: 141 · 2020: 149 · 2019: 121 · 2018: 147 · 2017: 117 · 2016: 156 · 2015: 154 · 2014: 167 · 2013: 168 · 2012: 192
- FWCI
- 119.36
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Figshare (submittedVersion, cc-by)
- Research Portal (King's College London) (submittedVersion)
- Sussex Research Online (University of Sussex) (submittedVersion)
- Funders
- Wellcome Trust (076671)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Keywords
- amyotrophic lateral sclerosis, TDP-43, TARDBP, familial ALS, sporadic ALS, TDP-43 mutations, chromosome 1p36, genetic linkage, ubiquitinated inclusions, neurodegeneration, neuronal apoptosis, protein fragmentation
- MeSH terms
- Adult, Amino Acid Sequence, Amyotrophic Lateral Sclerosis, Animals, Chick Embryo, Chromosomes, Human, Pair 1, Cricetulus, DNA-Binding Proteins, Female, Cricetinae, Humans, Male, Middle Aged, Molecular Sequence Data, Neurons, CHO Cells, Apoptosis, Microsatellite Repeats, Amino Acid Substitution, Mutation, Missense, Embryonic Development, Mutant Proteins
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