Ontology highlight
ABSTRACT:
SUBMITTER: Lotti F
PROVIDER: S-EPMC3474596 | biostudies-literature | 2012 Oct
REPOSITORIES: biostudies-literature
Lotti Francesco F Imlach Wendy L WL Saieva Luciano L Beck Erin S ES Hao Le T le T Li Darrick K DK Jiao Wei W Mentis George Z GZ Beattie Christine E CE McCabe Brian D BD Pellizzoni Livio L
Cell 20121001 2
Spinal muscular atrophy (SMA) is a motor neuron disease caused by deficiency of the ubiquitous survival motor neuron (SMN) protein. To define the mechanisms of selective neuronal dysfunction in SMA, we investigated the role of SMN-dependent U12 splicing events in the regulation of motor circuit activity. We show that SMN deficiency perturbs splicing and decreases the expression of a subset of U12 intron-containing genes in mammalian cells and Drosophila larvae. Analysis of these SMN target genes ...[more]