Cited by 2,630Amyotrophic Lateral Sclerosis ResearchHereditary Neurological DisordersAlzheimer's disease research and treatments

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TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

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Sreedharan, Jemeen, Blair, Ian P., Tripathi, Vineeta B., Hu, Xun, Vance, Caroline, Rogelj, Boris, Ackerley, Steven, Durnall, Jennifer C., Williams, Kelly L., Buratti, Emanuele, Baralle, Francisco, de Belleroche, Jacqueline, Mitchell, J. Douglas, Leigh, P. Nigel, Al-Chalabi, Ammar, Miller, Christopher C., Nicholson, Garth, Shaw, Christopher E.·2008·Science

DOI 10.1126/science.1154584PMC PMC7116650

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Abstract

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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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: Sreedharan, Jemeen
Blair, Ian P.
Hu, Xun
Vance, Caroline
Rogelj, Boris
Durnall, Jennifer C.
Williams, Kelly L.
Buratti, Emanuele
Baralle, Francisco
Leigh, P. Nigel
Miller, Christopher C.
Nicholson, Garth
Shaw, Christopher E.
Venue: Science
Publisher: American Association for the Advancement of Science (AAAS)
Published: 2008-03-21
Volume: 319
Issue: 5870
Pages: 1668-1672
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.1154584
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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TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

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