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Article

Evolving concepts on human SMN pre-mRNA splicing.

RNA biology - 1 Jan 2000

Singh Ravindra N

Abstract excerpt

SMN1 and SMN2 represent two nearly identical copies of the survival motor neuron gene in humans. Deletion of SMN1 coupled with the inability of SMN2 to compensate for the loss of SMN1 leads to spinal muscular atrophy (SMA), a leading genetic cause of infant mortality. SMN2 holds the promise for cure of SMA if skipping of exon 7 during pre-mRNA splicing of SMN2 could be prevented. Previous reports have shown that...

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Source

Identifiers

PMID: 17592254
DOI: 10.4161/rna.4.1.4535

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

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Evolving concepts on human SMN pre-mRNA splicing.PMID 17592254Read ↗

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 ↗

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

Spinal Muscular Atrophy: SMN2 Pre-mRNA Splicing Corrected by a U7 snRNA Derivative Carrying a Splicing Enhancer SequenceSemantic proximity Read ↗

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

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

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

Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3' splice site pairing.Semantic proximity Read ↗

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