Activation of a cryptic 5′ splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene

Spinal muscular atrophy (SMA) is caused by deletions or mutations of the Survival Motor Neuron 1 (SMN1) gene coupled with predominant skipping of SMN2 exon 7. The only approved SMA treatment is an antisense oligonucleotide that targets the intronic splicing silencer N1 (ISS-N1), located downstream o...

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Detalles Bibliográficos
Autores principales: Singh, Natalia N., Del Rio-Malewski, José Bruno, Luo, Diou, Ottesen, Eric W., Howell, Matthew D., Singh, Ravindra N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Gene regulation, Chromatin and Epigenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5716214/
https://www.ncbi.nlm.nih.gov/pubmed/28981879
http://dx.doi.org/10.1093/nar/gkx824

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