Ontology highlight
ABSTRACT:
SUBMITTER: Howell MD
PROVIDER: S-EPMC4356243 | biostudies-literature | 2014 Jun
REPOSITORIES: biostudies-literature
Howell Matthew D MD Singh Natalia N NN Singh Ravindra N RN
Future medicinal chemistry 20140601 9
Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality. The disease originates from low levels of SMN protein due to deletion and/or mutations of SMN1 coupled with the inability of SMN2 to compensate for the loss of SMN1. While SMN1 and SMN2 are nearly identical, SMN2 predominantly generates a truncated protein (SMNΔ7) due to skipping of exon 7, the last coding exon. Several avenues for SMA therapy are being explored, including means to enhance SMN2 transcription, correct S ...[more]