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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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Detalhes bibliográficos
Main Authors: Hofmann, Yvonne, Lorson, Christian L., Stamm, Stefan, Androphy, Elliot J., Wirth, Brunhilde
Formato: Artigo
Idioma:Inglês
Publicado em: The National Academy of Sciences 2000
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC16914/
https://ncbi.nlm.nih.gov/pubmed/10931943
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