Ontology highlight
ABSTRACT:
SUBMITTER: Passini MA
PROVIDER: S-EPMC3140425 | biostudies-literature | 2011 Mar
REPOSITORIES: biostudies-literature
Passini Marco A MA Bu Jie J Richards Amy M AM Kinnecom Cathrine C Sardi S Pablo SP Stanek Lisa M LM Hua Yimin Y Rigo Frank F Matson John J Hung Gene G Kaye Edward M EM Shihabuddin Lamya S LS Krainer Adrian R AR Bennett C Frank CF Cheng Seng H SH
Science translational medicine 20110301 72
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the SMN1 gene that result in a deficiency of SMN protein. One approach to treat SMA is to use antisense oligonucleotides (ASOs) to redirect the splicing of a paralogous gene, SMN2, to boost production of functional SMN. Injection of a 2'-O-2-methoxyethyl-modified ASO (ASO-10-27) into the cerebral lateral ventricles of mice with a severe form of SMA resulted in splice-mediated increases in SMN pr ...[more]