A genetic clog in the vitamin A transport machinery.

Zhong, Ming; Sun, Hui

Zhong, Ming; Sun, Hui.

Afiliação

Zhong M; Howard Hughes Medical Institute, Department of Physiology and Jules Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, U.S.A.
Sun H; Howard Hughes Medical Institute, Department of Physiology and Jules Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, U.S.A. Electronic address: hsun@mednet.ucla.edu.

Cell ; 161(3): 435-437, 2015 Apr 23.

Article em En | MEDLINE | ID: mdl-25910203

RESUMO

Chou et al. discover a new mode of maternal inheritance by analyzing human mutations in plasma retinol binding protein (RBP). Mechanistically, these mutations simultaneously lower RBP's affinity for vitamin A and greatly increase its affinity for its cell-surface receptor, thus dominantly blocking the transmembrane transport of vitamin A.

Assuntos

Oftalmopatias Hereditárias/genética; Mutação de Sentido Incorreto; Proteínas Plasmáticas de Ligação ao Retinol/genética; Animais; Feminino; Humanos; Masculino; Gravidez

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Oftalmopatias Hereditárias / Mutação de Sentido Incorreto / Proteínas Plasmáticas de Ligação ao Retinol Limite: Animals / Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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