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Article

A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.

Human molecular genetics - 1 Nov 2010

Gladman Jordan T, Bebee Thomas W, Edwards Chris, Wang Xueyong, Sahenk Zarife, Rich Mark M, Chandler Dawn S

Abstract excerpt

Proximal spinal muscular atrophy (SMA) is a neurodegenerative disease caused by low levels of the survival motor neuron (SMN) protein. In humans, SMN1 and SMN2 encode the SMN protein. In SMA patients, the SMN1 gene is lost and the remaining SMN2 gene only partially compensates. Mediated by a C>T nucleotide transition in SMN2, the inefficient recognition of exon 7 by the splicing machinery results in low levels of...

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Source

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Identifiers

PMID: 20705738
DOI: 10.1093/hmg/ddq343
PMCID: PMC2951869

Genes

SMN2
SMN1

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.

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