Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy.

ABSTRACT: Spinal muscular atrophy is a severe motor neuron disease caused by inactivating mutations in the SMN1 gene leading to reduced levels of full-length functional SMN protein. SMN is a critical mediator of spliceosomal protein assembly, and complete loss or drastic reduction in protein leads to loss of cell viability. However, the reason for selective motor neuron degeneration when SMN is reduced to levels which are tolerated by all other cell types is not currently understood. Widespread splicing abnormalities have recently been reported at end-stage in a mouse model of SMA, leading to the proposition that disruption of efficient splicing is the primary mechanism of motor neuron death. However, it remains unclear whether splicing abnormalities are present during early stages of the disease, w

SUBMITTER: Baumer D 

PROVIDER: S-EPMC2787017 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature