A genetic clog in the vitamin A transport machinery.

Zhong, Ming; Sun, Hui

Zhong, Ming; Sun, Hui.

Afiliación

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 en En | MEDLINE | ID: mdl-25910203

ABSTRACT

ABSTRACT

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.

Asunto(s)

Enfermedades Hereditarias del Ojo/genética; Mutación Missense; Proteínas Plasmáticas de Unión al Retinol/genética; Animales; Femenino; Humanos; Masculino; Embarazo

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Hereditarias del Ojo / Mutación Missense / Proteínas Plasmáticas de Unión al Retinol Límite: Animals / Female / Humans / Male / Pregnancy Idioma: En Revista: Cell Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos

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