Ontology highlight
ABSTRACT:
SUBMITTER: Van Alstyne M
PROVIDER: S-EPMC6075148 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Van Alstyne Meaghan M Simon Christian M CM Sardi S Pablo SP Shihabuddin Lamya S LS Mentis George Z GZ Pellizzoni Livio L
Genes & development 20180716 15-16
Ubiquitous deficiency in the survival motor neuron (SMN) protein causes death of motor neurons-a hallmark of the neurodegenerative disease spinal muscular atrophy (SMA)-through poorly understood mechanisms. Here, we show that the function of SMN in the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs) regulates alternative splicing of Mdm2 and Mdm4, two nonredundant repressors of p53. Decreased inclusion of critical Mdm2 and Mdm4 exons is most prominent in SMA motor neurons and ...[more]