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

Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.

Brain pathology (Zurich, Switzerland) - 1 Jan 2023

Cooper-Knock Johnathan, Julian Thomas H, Feneberg Emily, Highley J Robin, Sidra Maurice, Turner Martin R, Talbot Kevin, Ansorge Olaf, Allen Scott P, Moll Tobias, Shelkovnikova Tatyana, Castelli Lydia, Hautbergue Guillaume M, Hewitt Christopher, Kirby Janine, Wharton Stephen B, Mead Richard J, Shaw Pamela J

Abstract excerpt

We describe an autosomal dominant, multi-generational, amyotrophic lateral sclerosis (ALS) pedigree in which disease co-segregates with a heterozygous p.Y374X nonsense mutation within TDP-43. Mislocalization of TDP-43 and formation of insoluble TDP-43-positive neuronal cytoplasmic inclusions is the hallmark pathology in >95% of ALS patients. Neuropathological examination of the single case for which CNS tissue...

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 Mutation

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 35871544
DOI: 10.1111/bpa.13104
PMCID: PMC9836368

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

Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.PMID 35871544Read ↗

Amyotrophic lateral sclerosis caused by TARDBP mutations: from genetics to TDP-43 proteinopathy.Semantic proximity Read ↗

The basis of clinicopathological heterogeneity in TDP-43 proteinopathySemantic proximity Read ↗

Molecular Mechanisms Underlying TDP-43 Pathology in Cellular and Animal Models of ALS and FTLD.Semantic proximity Read ↗

Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders.Semantic proximity Read ↗

TDP-43 proteinopathies: a new wave of neurodegenerative diseasesSemantic proximity Read ↗

A C-Terminally Truncated TDP-43 Splice Isoform Exhibits Neuronal Specific Cytoplasmic Aggregation and Contributes to TDP-43 Pathology in ALSSemantic proximity Read ↗

The Pathobiology of TDP-43 C-Terminal Fragments in ALS and FTLDSemantic proximity Read ↗

TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43.Semantic proximity Read ↗

Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS.Semantic proximity Read ↗

Two neuronal models of TDP-43 proteinopathy display reduced axonal translation, increased oxidative stress, and defective exocytosisSemantic 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.