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Article

The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization.

Neurogenetics - 1 Sept 2000

Le T T, Coovert D D, Monani U R, Morris G E, Burghes A H

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by mutations in the telomeric copy of the survival motor neuron gene (SMN1) but not mutations in the centromeric copy (SMN2). The critical difference between the two genes is a nucleotide difference in exon 7 that affects splicing and causes this exon to be...

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Source

Identifiers

PMID: 11085591
DOI: 10.1007/s100480000090

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11085591-2026-09-02.2. 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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The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization.PMID 11085591Read ↗

The survival motor neuron protein in spinal muscular atrophySemantic proximity Read ↗

SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMNSemantic proximity Read ↗

Targeting SR Proteins Improves SMN Expression in Spinal Muscular Atrophy CellsSemantic proximity Read ↗

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.Semantic proximity Read ↗

A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levelsSemantic proximity Read ↗

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

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

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

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy.Semantic proximity Read ↗

Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type IIISemantic proximity Read ↗

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

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