Translational readthrough of <i>GLA</i> nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.

Lombardi, Silvia; Ferrarese, Mattia; Marchi, Saverio; Pinton, Paolo; Pinotti, Mirko; Bernardi, Francesco; Branchini, Alessio

Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.

Lombardi, Silvia; Ferrarese, Mattia; Marchi, Saverio; Pinton, Paolo; Pinotti, Mirko; Bernardi, Francesco; Branchini, Alessio.

Afiliação

Lombardi S; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.
Ferrarese M; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.
Marchi S; Department of Morphology, Surgery and Experimental Medicine, Section of Pathology, Oncology and Experimental Biology, University of Ferrara, Ferrara, Italy.
Pinton P; Department of Morphology, Surgery and Experimental Medicine, Section of Pathology, Oncology and Experimental Biology, University of Ferrara, Ferrara, Italy.
Pinotti M; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.
Bernardi F; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.
Branchini A; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.

RNA Biol ; 17(2): 254-263, 2020 02.

Article em En | MEDLINE | ID: mdl-31613176

Assuntos

Códon sem Sentido; Doença de Fabry/genética; Genes Dominantes; Mutação de Sentido Incorreto; Biossíntese de Proteínas; alfa-Galactosidase/genética; Sequência de Aminoácidos; Substituição de Aminoácidos; Doença de Fabry/diagnóstico; Humanos; Fenótipo; Transporte Proteico; alfa-Galactosidase/metabolismo

Palavras-chave

Nonsense mutations; fabry disease; lysosomal disorders; translational readthrough

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Biossíntese de Proteínas / Doença de Fabry / Alfa-Galactosidase / Códon sem Sentido / Mutação de Sentido Incorreto / Genes Dominantes Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google