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Article

Gene therapy: a promising approach to treating spinal muscular atrophy.

Human gene therapy - 1 Jul 2014

Mulcahy Pádraig J, Iremonger Kayleigh, Karyka Evangelia, Herranz-Martín Saúl, Shum Ka-To, Tam Janice Kal Van, Azzouz Mimoun

Abstract excerpt

Spinal muscular atrophy (SMA) is a severe autosomal recessive disease caused by a genetic defect in the survival motor neuron 1 (SMN1) gene, which encodes SMN, a protein widely expressed in all eukaryotic cells. Depletion of the SMN protein causes muscle weakness and progressive loss of movement in SMA patients. The field of gene therapy has made major advances over the past decade, and gene delivery to the...

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Source

Identifiers

PMID: 24845847
DOI: 10.1089/hum.2013.186

Genes

SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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