A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is an inherited motor neuron disease caused by homozygous loss of the Survival Motor Neuron 1 (SMN1) gene. In the absence of SMN1, inefficient inclusion of exon 7 in transcripts from the nearly identical SMN2 gene results in ubiquitous SMN decrease but selective motor n...

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Main Authors: Ruggiu, Matteo, McGovern, Vicki L., Lotti, Francesco, Saieva, Luciano, Li, Darrick K., Kariya, Shingo, Monani, Umrao R., Burghes, Arthur H. M., Pellizzoni, Livio
Format: Artigo
Language:Inglês
Published: American Society for Microbiology 2012
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Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3255708/
https://ncbi.nlm.nih.gov/pubmed/22037760
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1128/MCB.06077-11
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