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Article

A cell system for phenotypic screening of modifiers of SMN2 gene expression and function.

PloS one - 1 Jan 2013

Li Darrick K, Tisdale Sarah, Espinoza-Derout Jorge, Saieva Luciano, Lotti Francesco, Pellizzoni Livio

Abstract excerpt

Spinal muscular atrophy (SMA) is an inherited neurodegenerative disease caused by homozygous inactivation of the SMN1 gene and reduced levels of the survival motor neuron (SMN) protein. Since higher copy numbers of the nearly identical SMN2 gene reduce disease severity, to date most efforts to de...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23967270
DOI: 10.1371/journal.pone.0071965
PMCID: PMC3744461

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23967270-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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