title: [Myotonic dystrophy].
abstract: No effective treatment was available for myotonic dystrophy, even in animal model. We have established a new antisense oligonucleotide delivery to skeletal muscle of mice with bubble liposomes, and led to increased expression of chloride channel (CLCN1) protein and the amelioration of myotonia. In other experiments, we also identified small molecule compounds that correct aberrant splicing of Clcn1 gene. Manumycin A corrected aberrant splicing of Clcn1 in mouse model.
authors.affiliation: Graduate School of Arts and Sciences, The University of Tokyo.
authors.forename: Shoichi
authors.initials: S
authors.lastname: Ishiura
authors.forename: Kosuke
authors.initials: K
authors.lastname: Oana
authors.forename: Michinori
authors.initials: M
authors.lastname: Koebis
mesh_terms: D000818:Animals; D018118:Chloride Channels / Q000008:administration & dosage / Q000235:genetics / Q000378:metabolism; D004195:Disease Models, Animal; D018014:Gene Transfer Techniques; D015316:Genetic Therapy / Q000379:methods; D006801:Humans; D008081:Liposomes; D051379:Mice; D058990:Molecular Targeted Therapy; D018482:Muscle, Skeletal; D009223:Myotonic Dystrophy / Q000235:genetics / Q000628:therapy; D016376:Oligonucleotides, Antisense / Q000008:administration & dosage; D011090:Polyenes / Q000494:pharmacology / Q000627:therapeutic use; D053284:Polyunsaturated Alkamides / Q000494:pharmacology / Q000627:therapeutic use; D012326:RNA Splicing / Q000187:drug effects
chemical_list: C086321:CLC-1 channel; D018118:Chloride Channels; D008081:Liposomes; D016376:Oligonucleotides, Antisense; D011090:Polyenes; D053284:Polyunsaturated Alkamides; C054474:manumycin