ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43.

doi:10.1073/pnas.1222809110

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Article

ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43.

Proceedings of the National Academy of Sciences of the United States of America - 19 Feb 2013

Arnold Eveline S, Ling Shuo-Chien, Huelga Stephanie C, Lagier-Tourenne Clotilde, Polymenidou Magdalini, Ditsworth Dara, Kordasiewicz Holly B, McAlonis-Downes Melissa, Platoshyn Oleksandr, Parone Philippe A, Da Cruz Sandrine, Clutario Kevin M, Swing Debbie, Tessarollo Lino, Marsala Martin, Shaw Christopher E, Yeo Gene W, Cleveland Don W

Abstract excerpt

Transactivating response region DNA binding protein (TDP-43) is the major protein component of ubiquitinated inclusions found in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) with ubiquitinated inclusions. Two ALS-causing mutants (TDP-43(Q331K) and TDP-43(M337V)), but not wild-type human TDP-43, are shown here to provoke age-dependent, mutant-dependent, progressive motor axon...

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PMID: 23382207
DOI: 10.1073/pnas.1222809110
PMCID: PMC3581922

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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