title: Antisense oligonucleotide-directed inhibition of nonsense-mediated mRNA decay.
abstract: Nonsense-mediated mRNA decay (NMD) is a cellular quality-control mechanism that is thought to exacerbate the phenotype of certain pathogenic nonsense mutations by preventing the expression of semi-functional proteins. NMD also limits the efficacy of read-through compound (RTC)-based therapies. Here, we report a gene-specific method of NMD inhibition using antisense oligonucleotides (ASOs) and combine this approach with an RTC to effectively restore the expression of full-length protein from a nonsense-mutant allele.
authors.affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA.|Stony Brook University School of Medicine, Stony Brook, New York, USA.
authors.forename: Tomoki T
authors.initials: TT
authors.lastname: Nomakuchi
authors.affiliation: Isis Pharmaceuticals, Carslbad, California, USA.
authors.forename: Frank
authors.initials: F
authors.lastname: Rigo
authors.affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA.
authors.forename: Isabel
authors.initials: I
authors.lastname: Aznarez
authors.affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA.
authors.forename: Adrian R
authors.initials: AR
authors.lastname: Krainer
mesh_terms: D045744:Cell Line, Tumor; D005786:Gene Expression Regulation / Q000187:drug effects* / Q000235:genetics; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D059365:Nonsense Mediated mRNA Decay / Q000187:drug effects* / Q000235:genetics*; D016376:Oligonucleotides, Antisense / Q000235:genetics* / Q000494:pharmacology*; D015203:Reproducibility of Results
chemical_list: D016376:Oligonucleotides, Antisense