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

Pathogenic Mutation of TDP-43 Impairs RNA Processing in a Cell Type-Specific Manner: Implications for the Pathogenesis of ALS/FTLD.

eNeuro - 1 Jan 2022

Imaizumi Kent, Ideno Hirosato, Sato Tsukika, Morimoto Satoru, Okano Hideyuki

Abstract excerpt

Transactivating response element DNA-binding protein of 43 kDa (TDP-43), which is encoded by the TARDBP gene, is an RNA-binding protein with fundamental RNA processing activities, and its loss-of-function (LOF) has a central role in the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). TARDBP mutations are postulated to inactivate TDP-43 functions, leading to...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis
Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frontotemporal Dementia

Share to Frontotemporal Lobar Degeneration

Share to Induced Pluripotent Stem Cells

Share to Mutation

Share to RNA Processing, Post-Transcriptional

Source

Open in PubMed Open full text

Identifiers

PMID: 35641224
DOI: 10.1523/ENEURO.0061-22.2022
PMCID: PMC9186108

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

Pathogenic Mutation of TDP-43 Impairs RNA Processing in a Cell Type-Specific Manner: Implications for the Pathogenesis of ALS/FTLD.PMID 35641224Read ↗

Familial ALS/FTD-associated RNA-binding deficient TDP-43 mutants cause neuronal and synaptic transcript dysregulation in vitroSemantic proximity Read ↗

TDP-43 nuclear loss in FTD/ALS causes widespread alternative polyadenylation changes.Semantic proximity Read ↗

TDP-43 nuclear loss in FTD/ALS causes widespread alternative polyadenylation changesSemantic proximity Read ↗

Familial ALS/FTD-associated RNA-Binding deficient TDP-43 mutants cause neuronal and synaptic transcript dysregulation <i>in vitro</i>Semantic proximity Read ↗

TDP-43 dysregulation of polyadenylation site selection is a defining feature of RNA misprocessing in ALS/FTD and related disordersSemantic proximity Read ↗

TDP-43 dysregulation of polyadenylation site selection is a defining feature of RNA misprocessing in amyotrophic lateral sclerosis and frontotemporal dementiaSemantic proximity Read ↗

Understanding age-related pathologic changes in TDP-43 functions and the consequence on RNA splicing and signalling in health and diseaseSemantic proximity Read ↗

TDP-43 loss of function drives aberrant splicing in Parkinson’s diseaseSemantic proximity Read ↗

Integrative multiomic analysis links TDP-43-driven splicing defects to cascading proteomic disruption of ALS/FTD pathwaysSemantic proximity Read ↗

Alteration of POLDIP3 Splicing Associated with Loss of Function of TDP-43 in Tissues Affected with ALSSemantic proximity Read ↗

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

Dysregulation of Translation in TDP-43 Proteinopathies: Deficits in the RNA Supply Chain and Local Protein ProductionSemantic proximity Read ↗

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