Ontology highlight
ABSTRACT:
SUBMITTER: Doktor TK
PROVIDER: S-EPMC4043917 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Doktor Thomas Koed TK Schrøder Lisbeth Dahl LD Andersen Henriette Skovgaard HS Brøner Sabrina S Kitewska Anna A Sørensen Charlotte Brandt CB Andresen Brage Storstein BS
PloS one 20140603 6
Spinal Muscular Atrophy is caused by homozygous loss of SMN1. All patients retain at least one copy of SMN2 which produces an identical protein but at lower levels due to a silent mutation in exon 7 which results in predominant exclusion of the exon. Therapies targeting the splicing of SMN2 exon 7 have been in development for several years, and their efficacy has been measured using either in vitro cellular assays or in vivo small animal models such as mice. In this study we evaluated the potent ...[more]