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A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease. Loss of the survival motor neuron (SMN1) gene, in the presence of the SMN2 gene causes SMA. SMN functions in snRNP assembly in all cell types, however, it is unclear how this function results in specifically motor neu...
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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2685758/ https://ncbi.nlm.nih.gov/pubmed/19329542 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp157 |
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