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

An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy

15 Jul 2013

Abstract excerpt

Here, we report a long-distance interaction (LDI) as a critical regulator of alternative splicing of Survival Motor Neuron 2 (SMN2) exon 7, skipping of which is linked to spinal muscular atrophy (SMA), a leading genetic disease of children and infants. We show that this LDI is linked to a unique intra-intronic structure that we term internal stem through LDI-1 (ISTL1). We used site-specific mutations and...

Read the complete abstract on PubMed

Topics

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

Share to RNA modifications and cancer
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: 23861442
DOI: 10.1093/nar/gkt609

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophyPMID 23861442Read ↗

Splicing regulation in spinal muscular atrophy by an RNA structure formed by long-distance interactions.Semantic proximity Read ↗

Splicing of a Critical Exon of Human <i>Survival Motor Neuron</i> Is Regulated by a Unique Silencer Element Located in the Last IntronSemantic proximity Read ↗

RNA in spinal muscular atrophy: therapeutic implications of targeting.Semantic proximity Read ↗

Evolving concepts on human SMN pre-mRNA splicing.Semantic proximity Read ↗

Mechanistic studies of a small-molecule modulator of SMN2 splicingSemantic proximity Read ↗

High Concentration of an ISS-N1-Targeting Antisense Oligonucleotide Causes Massive Perturbation of the TranscriptomeSemantic proximity Read ↗

SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damageSemantic proximity Read ↗

Mechanistic principles of antisense targets for the treatment of spinal muscular atrophy.Semantic proximity Read ↗

Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genesSemantic proximity Read ↗

Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular AtrophySemantic proximity Read ↗

Antisense oligonucleotide mediated therapy of spinal muscular atrophySemantic proximity Read ↗

Bifunctional RNAs Targeting the Intronic Splicing Silencer N1 Increase SMN Levels and Reduce Disease Severity in an Animal Model of Spinal Muscular AtrophySemantic proximity Read ↗

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