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Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo.

Human molecular genetics - 15 Feb 2010

Kabashi Edor, Lin Li, Tradewell Miranda L, Dion Patrick A, Bercier Valérie, Bourgouin Patrick, Rochefort Daniel, Bel Hadj Samar, Durham Heather D, Vande Velde Christine, Rouleau Guy A, Drapeau Pierre

Abstract excerpt

TDP-43 has been found in inclusion bodies of multiple neurological disorders, including amyotrophic lateral sclerosis, frontotemporal dementia, Parkinson's disease and Alzheimer's disease. Mutations in the TDP-43 encoding gene, TARDBP, have been subsequently reported in sporadic and familial ALS patients. In order to investigate the pathogenic nature of these mutants, the effects of three consistently reported...

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Amyotrophic Lateral Sclerosis
Animals, Genetically Modified
Cell Line
Cells, Cultured
DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19959528
DOI: 10.1093/hmg/ddp534

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TARDBP

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

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Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo.PMID 19959528Read ↗

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Human TDP-43 overexpression in zebrafish motor neurons triggers MND-like phenotypes through gain-of-function mechanismSemantic proximity Read ↗

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Homozygous ALS-linked mutations in TARDBP/TDP-43 lead to hypoactivity and synaptic abnormalities in human iPSC-derived motor neuronsSemantic proximity Read ↗

Homozygous ALS-linked mutations in TARDBP/TDP-43 lead to hypoactivity and synaptic abnormalities in human iPSC-derived motor neuronsSemantic proximity Read ↗

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