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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 25 May 1999

Lorson C L, Hahnen E, Androphy E J, Wirth B

Abstract excerpt

SMN1 and SMN2 (survival motor neuron) encode identical proteins. A critical question is why only the homozygous loss of SMN1, and not SMN2, results in spinal muscular atrophy (SMA). Analysis of transcripts from SMN1/SMN2 hybrid genes and a new SMN1 mutation showed a direct relationship between pr...

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Source

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Identifiers

PMID: 10339583
DOI: 10.1073/pnas.96.11.6307
PMCID: PMC26877

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10339583-2026-09-02.2. 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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.PMID 10339583Read ↗

A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.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 degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity.Semantic proximity Read ↗

Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing.Semantic proximity Read ↗

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

Correction of SMN2 Pre-mRNA splicing by antisense U7 small nuclear RNAs.Semantic 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 ↗

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

Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophySemantic proximity Read ↗

hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicingSemantic proximity Read ↗

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

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