Ontology highlight
ABSTRACT:
SUBMITTER: Hadwen J
PROVIDER: S-EPMC3895859 | biostudies-other | 2014 Jan
REPOSITORIES: biostudies-other
Orphanet journal of rare diseases 20140109
<h4>Background</h4>Spinal Muscular Atrophy (SMA) is one of the most common inherited causes of infant death and is caused by the loss of functional survival motor neuron (SMN) protein due to mutations or deletion in the SMN1 gene. One of the treatment strategies for SMA is to induce the expression of the protein from the homologous SMN2 gene, a rescuing paralog for SMA.<h4>Methods and results</h4>Here we demonstrate the promise of pharmacological modulation of SMN2 gene by BAY 55-9837, an agonis ...[more]