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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Xehetasun bibliografikoak
Egile Nagusiak: Workman, Eileen, Saieva, Luciano, Carrel, Tessa L., Crawford, Thomas O., Liu, Don, Lutz, Cathleen, Beattie, Christine E., Pellizzoni, Livio, Burghes, Arthur H.M.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2009
Gaiak:
Articles
Sarrera elektronikoa: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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