Ontology highlight
ABSTRACT:
SUBMITTER: Zhang Z
PROVIDER: S-EPMC3845193 | biostudies-literature | 2013 Nov
REPOSITORIES: biostudies-literature
Zhang Zhenxi Z Pinto Anna Maria AM Pinto Anna Maria AM Wan Lili L Wang Wei W Berg Michael G MG Oliva Isabela I Singh Larry N LN Dengler Christopher C Wei Zhi Z Dreyfuss Gideon G
Proceedings of the National Academy of Sciences of the United States of America 20131104 48
The motor neuron (MN) degenerative disease, spinal muscular atrophy (SMA) is caused by deficiency of SMN (survival motor neuron), a ubiquitous and indispensable protein essential for biogenesis of snRNPs, key components of pre-mRNA processing. However, SMA's hallmark MN pathology, including neuromuscular junction (NMJ) disruption and sensory-motor circuitry impairment, remains unexplained. Toward this end, we used deep RNA sequencing (RNA-seq) to determine if there are any transcriptome changes ...[more]