The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation.

Pignani, S; Todaro, A; Ferrarese, M; Marchi, S; Lombardi, S; Balestra, D; Pinton, P; Bernardi, F; Pinotti, M; Branchini, A

Pignani, S; Todaro, A; Ferrarese, M; Marchi, S; Lombardi, S; Balestra, D; Pinton, P; Bernardi, F; Pinotti, M; Branchini, A.

Afiliação

Pignani S; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.
Todaro A; 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.
Lombardi S; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.
Balestra D; Department of Life Sciences and Biotechnology, 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.
Bernardi F; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.
Pinotti M; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.
Branchini A; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.

J Thromb Haemost ; 16(10): 2035-2043, 2018 10.

Article em En | MEDLINE | ID: mdl-29993188

Assuntos

Coagulação Sanguínea/efeitos dos fármacos; Fator IX/genética; Fator IX/metabolismo; Hemofilia B/tratamento farmacológico; Mutação de Sentido Incorreto; Fenilbutiratos/farmacologia; Relação Dose-Resposta a Droga; Células HEK293; Hemofilia B/sangue; Hemofilia B/genética; Humanos; Transporte Proteico; Via Secretória

Palavras-chave

blood coagulation factor deficiencies; factor IX; hemophilia B; missense mutation; molecular medicine

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenilbutiratos / Coagulação Sanguínea / Fator IX / Hemofilia B / Mutação de Sentido Incorreto Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: J Thromb Haemost Ano de publicação: 2018 Tipo de documento: Article

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