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

TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13A

17 Mar 2023

Abstract excerpt

A major function of TAR DNA-binding protein-43 (TDP-43) is to repress the inclusion of cryptic exons during RNA splicing. One of these cryptic exons is in UNC13A, a genetic risk factor for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The accumulation of cryptic UNC13A in disease is heightened by the presence of a risk haplotype located within the cryptic exon itself. Here, we revealed...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis Research
Share to Neurogenetic and Muscular Disorders Research
Share to RNA Research and Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36930682
DOI: 10.1371/journal.pbio.3002028

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13APMID 36930682Read ↗

TDP-43 represses cryptic exon inclusion in FTD/ALS gene <i>UNC13A</i>Semantic proximity Read ↗

TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13ASemantic proximity Read ↗

Cracking the cryptic code in amyotrophic lateral sclerosis and frontotemporal dementia: Towards therapeutic targets and biomarkersSemantic proximity Read ↗

Common ALS/FTD risk variants in UNC13A exacerbate its cryptic splicing and loss upon TDP-43 mislocalizationSemantic proximity Read ↗

Common ALS/FTD risk variants in <i>UNC13A</i> exacerbate its cryptic splicing and loss upon TDP-43 mislocalizationSemantic proximity Read ↗

The era of cryptic exons: implications for ALS-FTDSemantic proximity Read ↗

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.Semantic proximity Read ↗

Molecular mechanisms linking loss of TDP-43 function to amyotrophic lateral sclerosis/frontotemporal dementia-related genes.Semantic proximity Read ↗

TDP-43 loss induces extensive cryptic polyadenylation in ALS/FTDSemantic proximity Read ↗

Quantitative analysis of cryptic splicing associated with TDP-43 depletionSemantic proximity Read ↗

The UNC13A cryptic exon associates with cognitive impairment in Alzheimer's disease.Semantic proximity Read ↗

Long-read RNA sequencing unveils a novel cryptic exon in MNAT1 along with its full-length transcript structure in TDP-43 proteinopathySemantic proximity Read ↗

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