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 non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition.

Molecular genetics and metabolism - 1 May 2020

Häuser Friederike, Gökce Seyfullah, Werner Gesa, Danckwardt Sven, Sollfrank Stefanie, Neukirch Carolin, Beyer Vera, Hennermann Julia B, Lackner Karl J, Mengel Eugen, Rossmann Heidi

Abstract excerpt

BACKGROUND: Interpretation of genetic variants detected by sequencing of genomic DNA, which may cause splicing defects, regularly requires mRNA analysis. Usually, only bioinformatic testing is provided, because simple and non-invasive assay protocols are lacking. Furthermore, the detection of mis-splicing is often hampered by nonsense mediated mRNA decay (NMD). METHODS: Starting from a case of Pompe disease with...

Read the complete abstract on PubMed

Topics

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

Share to alpha-Glucosidases
Share to Chromatography, Liquid

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Glycogen Storage Disease Type II

Share to Lymphocytes

Share to Nonsense Mediated mRNA Decay

Share to Protein Synthesis Inhibitors

Share to Tandem Mass Spectrometry

Source

Identifiers

PMID: 32222271
DOI: 10.1016/j.ymgme.2020.03.002

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

A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition.PMID 32222271Read ↗

A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.Semantic proximity Read ↗

Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.Semantic proximity Read ↗

From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense OligonucleotidesSemantic proximity Read ↗

Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.Semantic proximity Read ↗

Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases.Semantic proximity Read ↗

Antisense suppression of the nonsense mediated decay factor Upf3b as a potential treatment for diseases caused by nonsense mutationsSemantic proximity Read ↗

Direct and indirect effects of spliceosome disruption compromise gene regulation by Nonsense-Mediated mRNA DecaySemantic proximity Read ↗

A Yeast-Based High-Throughput Screening Platform for the Discovery of Novel pre-mRNA Splicing ModulatorsSemantic proximity Read ↗

Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations.Semantic proximity Read ↗

The application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genes.Semantic proximity Read ↗

GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle CellsSemantic proximity Read ↗

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.Semantic proximity Read ↗

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