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Article

Activation of a cryptic 5' splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene.

Nucleic acids research - 1 Dec 2017

Singh Natalia N, Del Rio-Malewski José Bruno, Luo Diou, Ottesen Eric W, Howell Matthew D, Singh Ravindra N

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by deletions or mutations of the Survival Motor Neuron 1 (SMN1) gene coupled with predominant skipping of SMN2 exon 7. The only approved SMA treatment is an antisense oligonucleotide that targets the intronic splicing silencer N1 (ISS-N1), located downstream of the 5' splice site (5'ss) of exon 7. Here, we describe a novel approach to exon 7 splicing modulation through...

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Share to Heterogeneous-Nuclear Ribonucleoprotein Group A-B
Share to Muscular Atrophy, Spinal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Regulatory Sequences, Ribonucleic Acid

Share to Ribonucleoprotein, U1 Small Nuclear

Share to RNA, Small Nuclear

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Share to Survival of Motor Neuron 1 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 28981879
DOI: 10.1093/nar/gkx824
PMCID: PMC5716214

Genes

SMN1
SMN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Activation of a cryptic 5' splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene.PMID 28981879Read ↗

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