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Article

The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy.

The EMBO journal - 7 Apr 2010

Pedrotti Simona, Bielli Pamela, Paronetto Maria Paola, Ciccosanti Fabiola, Fimia Gian Maria, Stamm Stefan, Manley James L, Sette Claudio

Abstract excerpt

Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. An almost identical SMN2 gene is unable to compensate for this deficiency because a single C-to-T transition at position +6 in exon-7 causes skipping of t...

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Source

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Identifiers

PMID: 20186123
DOI: 10.1038/emboj.2010.19
PMCID: PMC2857462

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20186123-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy.PMID 20186123Read ↗

SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophySemantic 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 ↗

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

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

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

Sam68 binds Alu-rich introns in SMN and promotes pre-mRNA circularizationSemantic proximity Read ↗

Splicing of the Survival Motor Neuron genes and implications for treatment of SMASemantic proximity Read ↗

Htra2-β 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 ( SMN2 )Semantic 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 ↗

Development of a Single Vector System that Enhances Trans-Splicing of SMN2 TranscriptsSemantic proximity Read ↗

A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2Semantic proximity Read ↗

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