Ontology highlight
ABSTRACT:
SUBMITTER: Custer SK
PROVIDER: S-EPMC5063418 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Custer Sara K SK Gilson Timra D TD Li Hongxia H Todd A Gary AG Astroski Jacob W JW Lin Hai H Liu Yunlong Y Androphy Elliot J EJ
PloS one 20161013 10
Spinal muscular atrophy (SMA) is an intractable neurodegenerative disease afflicting 1 in 6-10,000 live births. One of the key functions of the SMN protein is regulation of spliceosome assembly. Reduced levels of the SMN protein that are observed in SMA have been shown to result in aberrant mRNA splicing. SMN-dependent mis-spliced transcripts in motor neurons may cause stresses that are particularly harmful and may serve as potential targets for the treatment of motor neuron disease or as biomar ...[more]