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Article

A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity.

Genes & development - 1 Mar 2010

Cho Sungchan, Dreyfuss Gideon

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by homozygous survival of motor neurons 1 (SMN1) gene deletions, leaving a duplicate gene, SMN2, as the sole source of SMN protein. However, most of the mRNA produced from SMN2 pre-mRNA is exon 7-skipped ( approximately 80%), resulting in a highly unstable...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20194437
DOI: 10.1101/gad.1884910
PMCID: PMC2827839

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20194437-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity.PMID 20194437Read ↗

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.Semantic proximity Read ↗

A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron proteinSemantic proximity Read ↗

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

Advances in Therapeutic Development for Spinal Muscular AtrophySemantic 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 ↗

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

Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy GeneSemantic proximity Read ↗

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

A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes.Semantic proximity Read ↗

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