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A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity
Spinal muscular atrophy (SMA) is caused by homozygous survival of motor neurons 1 (SMN1) gene deletions, leaving a duplicate gene, SMN2, as the sole source of SMN protein. However, most of the mRNA produced from SMN2 pre-mRNA is exon 7-skipped (∼80%), resulting in a highly unstable and almost undete...
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| Hoofdauteurs: | , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Cold Spring Harbor Laboratory Press
2010
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2827839/ https://ncbi.nlm.nih.gov/pubmed/20194437 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gad.1884910 |
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