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Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.
Palhais, Bruno; Præstegaard, Veronica S; Sabaratnam, Rugivan; Doktor, Thomas Koed; Lutz, Seraina; Burda, Patricie; Suormala, Terttu; Baumgartner, Matthias; Fowler, Brian; Bruun, Gitte Hoffmann; Andersen, Henriette Skovgaard; Kozich, Viktor; Andresen, Brage Storstein.
Afiliación
  • Palhais B; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
  • Præstegaard VS; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
  • Sabaratnam R; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
  • Doktor TK; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
  • Lutz S; Division of Metabolism, University Children's Hospital, Zürich, Switzerland.
  • Burda P; Division of Metabolism, University Children's Hospital, Zürich, Switzerland.
  • Suormala T; Division of Metabolism, University Children's Hospital, Zürich, Switzerland.
  • Baumgartner M; Division of Metabolism, University Children's Hospital, Zürich, Switzerland.
  • Fowler B; Division of Metabolism, University Children's Hospital, Zürich, Switzerland.
  • Bruun GH; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
  • Andersen HS; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
  • Kozich V; Institute of Inherited Metabolic Disorders, Charles University in Prague-First Faculty of Medicine and General University Hospital, Praha, Czech Republic.
  • Andresen BS; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark bragea@bmb.sdu.dk.
Nucleic Acids Res ; 43(9): 4627-39, 2015 May 19.
Article en En | MEDLINE | ID: mdl-25878036
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Oligonucleótidos / Empalme del ARN / Exones / Secuencias Reguladoras de Ácido Ribonucleico / Ferredoxina-NADP Reductasa / Homocistinuria / Anemia Megaloblástica / Mutación Límite: Humans Idioma: En Revista: Nucleic Acids Res Año: 2015 Tipo del documento: Article País de afiliación: Dinamarca Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Oligonucleótidos / Empalme del ARN / Exones / Secuencias Reguladoras de Ácido Ribonucleico / Ferredoxina-NADP Reductasa / Homocistinuria / Anemia Megaloblástica / Mutación Límite: Humans Idioma: En Revista: Nucleic Acids Res Año: 2015 Tipo del documento: Article País de afiliación: Dinamarca Pais de publicación: Reino Unido