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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Bibliographic Details
Published in:Nucleic Acids Res
Main Authors: Singh, Natalia N., Del Rio-Malewski, José Bruno, Luo, Diou, Ottesen, Eric W., Howell, Matthew D., Singh, Ravindra N.
Format: Artigo
Language:Inglês
Published: Oxford University Press 2017
Subjects:
Gene regulation, Chromatin and Epigenetics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5716214/
https://ncbi.nlm.nih.gov/pubmed/28981879
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkx824
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