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Article

Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2.

PloS one - 1 Jan 2014

Doktor Thomas Koed, Schrøder Lisbeth Dahl, Andersen Henriette Skovgaard, Brøner Sabrina, Kitewska Anna, Sørensen Charlotte Brandt, Andresen Brage Storstein

Abstract excerpt

Spinal Muscular Atrophy is caused by homozygous loss of SMN1. All patients retain at least one copy of SMN2 which produces an identical protein but at lower levels due to a silent mutation in exon 7 which results in predominant exclusion of the exon. Therapies targeting the splicing of SMN2 exon...

Read the complete abstract on PubMed

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Share to Consensus Sequence
Share to Gene Order
Share to Heterogeneous Nuclear Ribonucleoprotein A1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterogeneous-Nuclear Ribonucleoprotein Group A-B

Share to RNA Splicing

Share to Silencer Elements, Transcriptional

Share to Survival of Motor Neuron 1 Protein

Share to Survival of Motor Neuron 2 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 24892836
DOI: 10.1371/journal.pone.0098841
PMCID: PMC4043917

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24892836-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Research trail→

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Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2.PMID 24892836Read ↗

A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.Semantic proximity Read ↗

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.Semantic proximity Read ↗

Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.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 ↗

An intronic element contributes to splicing repression in spinal muscular atrophy.Semantic proximity Read ↗

hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicingSemantic proximity Read ↗

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

The Regulation and Regulatory Activities of Alternative Splicing of the SMN GeneSemantic proximity Read ↗

Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing.Semantic proximity Read ↗

Targeted-Deletion of a Tiny Sequence via Prime Editing to Restore SMN ExpressionSemantic proximity Read ↗

SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3′ splice siteSemantic proximity Read ↗

Dual Masking of Specific Negative Splicing Regulatory Elements Resulted in Maximal Exon 7 Inclusion of SMN2 GeneSemantic proximity Read ↗

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