_SMA_transcriptomics_and_non_canonical_translation. _SMA_transcriptomics_and_non_canonical_translation

Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality and is caused by mutation of SMN, which encodes a protein critical for snRNP assembly and splicing. SMN loss-of-function induces motor neuron death and disrupts neuromuscular communication. Approved treatments for SMA are lacking, and will benefit from increased knowledge of additional functional pathways disrupted in SMA. We are undertaking simultaneous global proteomic and transcriptomic profiling of spinal cord tissue from SMA mice and control mice across a developmental timecourse (P2, P6, and P10). We will cross-reference these data to examine changes in translational regulation, examine differential splicing of individual mRNAs, and examine non-canonical translation products in SMA disease. Together these results give insight into molecular mechanisms underlying SMA and neurodegenerative disease.