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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Hlavní autoři: Workman, Eileen, Saieva, Luciano, Carrel, Tessa L., Crawford, Thomas O., Liu, Don, Lutz, Cathleen, Beattie, Christine E., Pellizzoni, Livio, Burghes, Arthur H.M.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2009
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On-line přístup: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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