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Pathogenic TARDBP mutations in amyotrophic lateral sclerosis and frontotemporal dementia: disease-associated pathways.

Reviews in the neurosciences - 1 Jan 2010

Barmada Sami J, Finkbeiner Steven

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are late-onset neurodegenerative disorders that are associated with mutations in the TARDBP gene. The product of this gene, TDP-43, has also been identified as the main component of the intracellular inclusions typical of most cases of ALS and FTD. Recent evidence suggests that TDP-43 is essential for proper development and involved in several...

Topics

Amyotrophic Lateral Sclerosis
Animals
DNA-Binding Proteins
Frontotemporal Dementia
Humans
Models, Biological
Mutation
RNA, Messenger

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 21086759
DOI: 10.1515/revneuro.2010.21.4.251

Genes

TARDBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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