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Article

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

Nature genetics - 1 Apr 2002

Cartegni Luca, Krainer Adrian R

Abstract excerpt

Alteration of correct splicing patterns by disruption of an exonic splicing enhancer may be a frequent mechanism by which point mutations cause genetic diseases. Spinal muscular atrophy results from the lack of functional survival of motor neuron 1 gene (SMN1), even though all affected individual...

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Share to Cyclic AMP Response Element-Binding Protein
Share to Muscular Atrophy, Spinal
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11925564
DOI: 10.1038/ng854

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11925564-2026-09-04.2. 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→

Click a neighbor to travelStep 1 · 12 closest

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.PMID 11925564Read ↗

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

An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy.Semantic proximity Read ↗

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

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

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

Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates <i>SMN2</i> gene expression in patient fibroblastsSemantic proximity Read ↗

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy.Semantic proximity Read ↗

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.Semantic proximity Read ↗

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

The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in 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 ↗

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