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Article

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

Human molecular genetics - 1 Nov 2001

DiDonato C J, Lorson C L, De Repentigny Y, Simard L, Chartrand C, Androphy E J, Kothary R

Abstract excerpt

Proximal spinal muscular atrophy (SMA) is caused by mutations in the survival motor neuron gene (SMN1). In humans, two nearly identical copies of SMN exist and differ only by a single non-polymorphic C-->T nucleotide transition in exon 7. SMN1 contains a 'C' nucleotide at the +6 position of exon 7 and produces primarily full-length SMN transcripts, whereas SMN2 contains a 'T' nucleotide and produces high levels...

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Source

Identifiers

PMID: 11726560
DOI: 10.1093/hmg/10.23.2727

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing.PMID 11726560Read ↗

A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular AtrophySemantic 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 ↗

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

Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late.Semantic proximity Read ↗

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

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

Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy.Semantic proximity Read ↗

Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular AtrophySemantic proximity Read ↗

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

An Intronic Splicing Enhancer Element in Survival Motor Neuron (SMN) Pre-mRNASemantic proximity Read ↗

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

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