The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.

Palhais, Bruno; Dembic, Maja; Sabaratnam, Rugivan; Nielsen, Kira S; Doktor, Thomas Koed; Bruun, Gitte Hoffmann; Andresen, Brage Storstein

Palhais, Bruno; Dembic, Maja; Sabaratnam, Rugivan; Nielsen, Kira S; Doktor, Thomas Koed; Bruun, Gitte Hoffmann; Andresen, Brage Storstein.

Afiliação

Palhais B; Department of Biochemistry and Molecular Biology, the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
Dembic M; Department of Biochemistry and Molecular Biology, the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
Sabaratnam R; Department of Biochemistry and Molecular Biology, the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
Nielsen KS; Department of Biochemistry and Molecular Biology, the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
Doktor TK; Department of Biochemistry and Molecular Biology, the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
Bruun GH; Department of Biochemistry and Molecular Biology, the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
Andresen BS; Department of Biochemistry and Molecular Biology, the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark. Electronic address: bragea@bmb.sdu.dk.

Mol Genet Metab ; 119(3): 258-269, 2016 11.

Article em En | MEDLINE | ID: mdl-27595546

Assuntos

Doença de Fabry/genética; Ribonucleoproteína Nuclear Heterogênea A1/genética; Ribonucleoproteínas Nucleares Heterogêneas Grupo A-B/genética; alfa-Galactosidase/genética; Éxons/genética; Doença de Fabry/patologia; Células HeLa; Humanos; Íntrons; Mutação; Sítios de Splice de RNA; Splicing de RNA/genética; RNA Mensageiro/genética; Elementos Silenciadores Transcricionais/genética

Palavras-chave

ESE; ESS; Fabry disease; GLA; Pseudoexon; Splice switching oligonucleotide (SSO); hnRNP A1 hnRNP A2/B1; hnRNP F/H

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Fabry / Alfa-Galactosidase / Ribonucleoproteínas Nucleares Heterogêneas Grupo A-B / Ribonucleoproteína Nuclear Heterogênea A1 Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Revista: Mol Genet Metab Ano de publicação: 2016 Tipo de documento: Article

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