title: Enhanced production of functional proteins from defective genes.
abstract: Nonsense mutations are associated with a host of genetic disorders. The protein products encoded by genes containing these mutations are either truncated or completely missing. Recently, members of the aminoglycoside family of antibiotics have been found to induce the ribosome to read past these inappropriately inserted stop codons, albeit at extremely modest efficiencies. We report herein a strategy that enhances the production of functional proteins from the corresponding mutated genes.
authors.affiliation: Department of Biochemistry, The Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, New York 10461, USA.
authors.forename: Biao
authors.initials: B
authors.lastname: Xi
authors.forename: Fangxia
authors.initials: F
authors.lastname: Guan
authors.forename: David S
authors.initials: DS
authors.lastname: Lawrence
mesh_terms: D000617:Aminoglycosides / Q000494:pharmacology; D064007:Ataxia Telangiectasia Mutated Proteins; D001483:Base Sequence; D018797:Cell Cycle Proteins; D002460:Cell Line; D018389:Codon, Nonsense / Q000235:genetics; D018388:Codon, Terminator / Q000235:genetics; D004268:DNA-Binding Proteins; D005786:Gene Expression Regulation / Q000187:drug effects; D017930:Genes, Reporter / Q000235:genetics; D005839:Gentamicins / Q000494:pharmacology; D006801:Humans; D015242:Ofloxacin / Q000494:pharmacology; D011401:Promoter Regions, Genetic / Q000235:genetics; D014176:Protein Biosynthesis; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D011506:Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012689:Sequence Homology, Nucleic Acid; D025521:Tumor Suppressor Proteins
chemical_list: D000617:Aminoglycosides; D018797:Cell Cycle Proteins; D018389:Codon, Nonsense; D018388:Codon, Terminator; D004268:DNA-Binding Proteins; D005839:Gentamicins; D011506:Proteins; D012333:RNA, Messenger; D025521:Tumor Suppressor Proteins; C010680:antibiotic G 418; D015242:Ofloxacin; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases