TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

Kabashi, Edor; Valdmanis, Paul N; Dion, Patrick; Spiegelman, Dan; McConkey, Brendan J; Velde, Christine Vande; Bouchard, Jean-Pierre; Lacomblez, Lucette; Pochigaeva, Ksenia; Salachas, Francois; Pradat, Pierre-Francois; Camu, William; Meininger, Vincent; Dupre, Nicolas; Rouleau, Guy A

doi:10.1038/ng.132

Cited by 1,544Amyotrophic Lateral Sclerosis ResearchHereditary Neurological DisordersAlzheimer's disease research and treatments

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

Kabashi, Edor, Valdmanis, Paul N, Dion, Patrick, Spiegelman, Dan, McConkey, Brendan J, Velde, Christine Vande, Bouchard, Jean-Pierre, Lacomblez, Lucette +7 more·2008·Nature Genetics

DOI 10.1038/ng.132

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Abstract

Recently, TDP-43 was identified as a key component of ubiquitinated aggregates in amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the degeneration of motor neurons. Here we report eight missense mutations in nine individuals--six from individuals with sporadic ALS (SALS) and three from those with familial ALS (FALS)--and a concurring increase of a smaller TDP-43 product. These findings further corroborate that TDP-43 is involved in ALS pathogenesis.

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Mutations in TARDBP are the third most common cause of familial autosomal dominant ALS and account for rare cases of sporadic ALS.
“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 [290]

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Authors: Kabashi, E., Valdmanis, P. N., Dion, P., Spiegelman, D., McConkey, B. J., Velde, C. V., Bouchard, J.-P., Lacomblez, L., Pochigaeva, K., Salachas, F., Pradat, P.-F., Camu, W., Meininger, V., Dupre, N., & Rouleau, G. A.
Affiliations: Centre Hospitalier de l’Université de Montréal (CA)
University of Waterloo (CA)
Hôpital de l'Enfant-Jésus (CA)
Pitié-Salpêtrière Hospital (FR)
Corresponding author: Rouleau, Guy A
ORCID: Kabashi, Edor
Valdmanis, Paul N
Dion, Patrick
Spiegelman, Dan
McConkey, Brendan J
Velde, Christine Vande
Pochigaeva, Ksenia
Camu, William
Meininger, Vincent
Rouleau, Guy A
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2008-03-30
Volume: 40
Issue: 5
Pages: 572-574
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng.132
OpenAlex: W2127861463
Cited by: 1,544
References: 14
Citations by year: 2026: 28 · 2025: 57 · 2024: 52 · 2023: 54 · 2022: 70 · 2021: 69 · 2020: 67 · 2019: 79 · 2018: 85 · 2017: 70 · 2016: 95 · 2015: 75 · 2014: 98 · 2013: 110 · 2012: 123
FWCI: 87.06
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
Keywords: TARDBP, TDP-43, amyotrophic lateral sclerosis, sporadic ALS, familial ALS, missense mutations, ubiquitinated protein aggregates, motor neuron degeneration, ALS pathogenesis
MeSH terms: Adult, Aged, Amino Acid Sequence, Amyotrophic Lateral Sclerosis, Base Sequence, DNA-Binding Proteins, Female, Humans, Male, Middle Aged, Molecular Sequence Data, Pedigree, Protein Biosynthesis, Mutation, Missense

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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

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