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Article

Splicing regulation in spinal muscular atrophy by an RNA structure formed by long-distance interactions.

Annals of the New York Academy of Sciences - 1 Apr 2015

Singh Natalia N, Lee Brian M, Singh Ravindra N

Abstract excerpt

Humans carry two copies of the survival motor neuron gene: SMN1 and SMN2. Loss of SMN1 coupled with skipping of SMN2 exon 7 causes spinal muscular atrophy (SMA), a leading genetic disease associated with infant mortality. Our discovery of intronic splicing silencer N1 (ISS-N1) is a promising target, currently in a phase III clinical trial, for an antisense oligonucleotide-mediated splicing correction in SMA. We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Atrophy, Spinal

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Share to Oligonucleotides, Antisense

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Source

Open in PubMed Open full text

Identifiers

PMID: 25727246
DOI: 10.1111/nyas.12727
PMCID: PMC4651915

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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