A Cell System for Phenotypic Screening of Modifiers of SMN2 Gene Expression and Function

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 devel...

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Detalhes bibliográficos
Main Authors: Li, Darrick K., Tisdale, Sarah, Espinoza-Derout, Jorge, Saieva, Luciano, Lotti, Francesco, Pellizzoni, Livio
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3744461/
https://ncbi.nlm.nih.gov/pubmed/23967270
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0071965
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