Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional complementation in Drosophila to predict the pathogenicity of TARDBP variants: evidence for a loss-of-function mechanism.

Neurobiology of aging - 1 Feb 2015

Vanden Broeck Lies, Kleinberger Gernot, Chapuis Julien, Gistelinck Marc, Amouyel Philippe, Van Broeckhoven Christine, Lambert Jean-Charles, Callaerts Patrick, Dermaut Bart

Abstract excerpt

The human TAR DNA binding protein 43 (TDP-43), encoded by the gene TARDBP, plays a central role in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. TDP-43 inclusions are also found in up to approximately 60% of Alzheimer's disease (AD) brains. Although ALS-causing TARDBP mutations cluster in the C-terminal glycine-rich region of the protein, the pathogenic nature of the atypical missense variants...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Alzheimer Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Amyotrophic Lateral Sclerosis

Share to DNA-Binding Proteins

Share to Drosophila

Share to Forecasting

Share to Frontotemporal Dementia

Share to Neurons

Source

Identifiers

PMID: 25442115
DOI: 10.1016/j.neurobiolaging.2014.09.001

Genes

TARDBP

Variants

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional complementation in Drosophila to predict the pathogenicity of TARDBP variants: evidence for a loss-of-function mechanism.PMID 25442115Read ↗

Pathogenicity Classification of TARDBP Variants of Uncertain Significance: An Integrative Clinical Characterization and Functional Validation.Semantic proximity Read ↗

TARDBP variants in Taiwanese ALS patients: Genetic spectrum, clinical features, and founder effects.Semantic proximity Read ↗

TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97.Semantic proximity Read ↗

An age-related reduction of brain TBPH/TDP-43 levels precedes the onset of locomotion defects in a Drosophila ALS modelSemantic proximity Read ↗

TDP-43-mediated neurodegeneration: towards a loss-of-function hypothesis?Semantic proximity Read ↗

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosisSemantic proximity Read ↗

Cytoplasmic Relocalization of TAR DNA-Binding Protein 43 Is Not Sufficient to Reproduce Cellular Pathologies Associated with ALS In vitroSemantic proximity Read ↗

Drosophila Answers to TDP-43 ProteinopathiesSemantic proximity Read ↗

Phenotypes in Swiss patients with familial ALS carrying TARDBP mutations.Semantic proximity Read ↗

Mice deficient in the C-terminal domain of TAR DNA-binding protein 43 develop age-dependent motor dysfunction associated with impaired Notch1−Akt signaling pathwaySemantic proximity Read ↗

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.Semantic proximity Read ↗

Drosophila TDP-43 dysfunction in glia and muscle cells cause cytological and behavioural phenotypes that characterize ALS and FTLD.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.