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

A novel splice site FUS mutation in a familial ALS case: effects on protein expression.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Feb 2022

Canosa Antonio, Lomartire Annarosa, De Marco Giovanni, Grassano Maurizio, Brunetti Maura, Manera Umberto, Vasta Rosario, Salamone Paolina, Fuda Giuseppe, Sbaiz Luca, Gallone Salvatore, Moglia Cristina, Calvo Andrea, Chiò Adriano

Abstract excerpt

Objective: To investigate the impact of a novel heterozygous FUS mutation in the acceptor splice site of intron 14 (c.1542 - 1 g > t) on protein expression in Peripheral Blood Mononuclear Cells (PBMC) from a familial ALS patient. Methods: PBMC were isolated for mRNA analysis (cDNA synthesis, sequencing and one-step RT-PCR), Western Immunoblot (WI), and Immunofluorescence (IF). Results: cDNA analysis revealed the...

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 Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leukocytes, Mononuclear

Share to Mutation

Share to RNA-Binding Protein FUS

Source

Identifiers

PMID: 33879000
DOI: 10.1080/21678421.2021.1909065

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

A novel splice site FUS mutation in a familial ALS case: effects on protein expression.PMID 33879000Read ↗

The heterozygous deletion c.1509_1510delAG in exon 14 of FUS causes an aggressive childhood-onset ALS with cognitive impairment.Semantic proximity Read ↗

Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis.Semantic proximity Read ↗

Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis.Semantic proximity Read ↗

FUS-mediated alternative splicing in the nervous system: consequences for ALS and FTLDSemantic proximity Read ↗

ALS-associated FUS mutations result in compromised FUS alternative splicing and autoregulation.Semantic proximity Read ↗

FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention.Semantic proximity Read ↗

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.Semantic proximity Read ↗

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin miceSemantic proximity Read ↗

De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.Semantic proximity Read ↗

Low level of expression of C-terminally truncated human FUS causes extensive changes in spinal cord transcriptome of asymptomatic transgenic miceSemantic proximity Read ↗

Wild-type FUS corrects ALS-like disease induced by cytoplasmic mutant FUS through autoregulationSemantic proximity Read ↗

FUS mutations in sporadic amyotrophic lateral sclerosis.Semantic proximity Read ↗

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