Htra2-β1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

Spinal muscular atrophy (SMA), a common motor neuron disease in humans, results from loss of functional survival motor neuron (SMN1) alleles. A nearly identical copy of the gene, SMN2, fails to provide protection from SMA because of a single translationally silent nucleotide difference in exon 7. Th...

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Hlavní autoři: Hofmann, Yvonne, Lorson, Christian L., Stamm, Stefan, Androphy, Elliot J., Wirth, Brunhilde
Médium: Artigo
Jazyk:Inglês
Vydáno: The National Academy of Sciences 2000
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC16914/
https://ncbi.nlm.nih.gov/pubmed/10931943
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