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Article

Splicing of the Survival Motor Neuron genes and implications for treatment of SMA

Frontiers in bioscience (Landmark edition) - 1 Jun 2010

Bebee Thomas W, Gladman Jordan T, Chandler Dawn S

Abstract excerpt

Proximal spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of the survival motor neuron (SMN) protein. The reduced SMN levels are due to loss of the survival motor neuron-1 (SMN1) gene. Humans carry a nearly identical SMN2 gene that generates a truncated protein, due to a C to T nucleotide alteration in exon 7 that leads to inefficient RNA splicing of exon 7. This exclusion of SMN exon...

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Source

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Identifiers

PMID: 20515750
DOI: 10.2741/3670
PMCID: PMC2921696

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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