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Article

A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice

27 Mar 2009

Abstract excerpt

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 neuron cell death. Lack of endogenous mouse SMN (Smn) in mice results in embryonic lethality. Introduction of two...

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PMID: 19329542
DOI: 10.1093/hmg/ddp157

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