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

Rapid in vitro quantification of TDP-43 and FUS mislocalisation for screening of gene variants implicated in frontotemporal dementia and amyotrophic lateral sclerosis.

Scientific reports - 21 Jul 2021

Oyston Lisa J, Ubiparipovic Stephanie, Fitzpatrick Lauren, Hallupp Marianne, Boccanfuso Lauren M, Kwok John B, Dobson-Stone Carol

Abstract excerpt

Identified genetic mutations cause 20% of frontotemporal dementia (FTD) and 5-10% of amyotrophic lateral sclerosis (ALS) cases: however, for the remainder of patients the origin of disease is uncertain. The overlap in genetic, clinical and pathological presentation of FTD and ALS suggests these two diseases are related. Post-mortem, ~ 95% of ALS and ~ 50% of FTD patients show redistribution of the nuclear protein...

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 Cytoplasm

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deubiquitinating Enzyme CYLD

Share to Frontotemporal Dementia

Share to Genetic Testing

Share to Neurons

Share to RNA-Binding Protein FUS

Share to Staurosporine

Source

Open in PubMed Open full text

Identifiers

PMID: 34290285
DOI: 10.1038/s41598-021-94225-1
PMCID: PMC8295343

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Rapid in vitro quantification of TDP-43 and FUS mislocalisation for screening of gene variants implicated in frontotemporal dementia and amyotrophic lateral sclerosis.PMID 34290285Read ↗

Rapid and automated quantification of TDP-43 and FUS mislocalisation for screening of frontotemporal dementia and amyotrophic lateral sclerosis gene variantsSemantic proximity Read ↗

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia.Semantic proximity Read ↗

Single-cell transcriptomics uncovers chromatin dysfunction in a human TDP-43 proteinopathy model of Amyotrophic Lateral SclerosisSemantic proximity Read ↗

Mechanisms Associated with TDP-43 Neurotoxicity in ALS/FTLD.Semantic proximity Read ↗

Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in miceSemantic proximity Read ↗

Cytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis.Semantic proximity Read ↗

A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43.Semantic proximity Read ↗

TDP‐43 and FUS/TLS: cellular functions and implications for neurodegenerationSemantic proximity Read ↗

Understanding the role of TDP-43 and FUS/TLS in ALS and beyond.Semantic proximity Read ↗

Fused in sarcoma (FUS) protein lacking nuclear localization signal (NLS) and major RNA binding motifs triggers proteinopathy and severe motor phenotype in transgenic mice.Semantic proximity Read ↗

4R tau drives endolysosomal and autophagy dysfunction in frontotemporal dementia.Semantic proximity Read ↗

Molecular Determinants and Genetic Modifiers of Aggregation and Toxicity for the ALS Disease Protein FUS/TLSSemantic proximity Read ↗

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