The ocular albinism type 1 (OA1) gene controls melanosome maturation and size.

Cortese, Katia; Giordano, Francesca; Surace, Enrico M; Venturi, Consuelo; Ballabio, Andrea; Tacchetti, Carlo; Marigo, Valeria

Cortese, Katia; Giordano, Francesca; Surace, Enrico M; Venturi, Consuelo; Ballabio, Andrea; Tacchetti, Carlo; Marigo, Valeria.

Affiliation

Cortese K; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.

Invest Ophthalmol Vis Sci ; 46(12): 4358-64, 2005 Dec.

Article in En | MEDLINE | ID: mdl-16303920

Subject(s)

Albinism, Ocular/metabolism; Eye Proteins/physiology; Melanosomes/metabolism; Membrane Glycoproteins/physiology; Pigment Epithelium of Eye/metabolism; Albinism, Ocular/genetics; Animals; Cell Culture Techniques; Fluorescent Antibody Technique, Indirect; Hypopigmentation/metabolism; Membrane Proteins/genetics; Membrane Proteins/metabolism; Mice; Mice, Inbred C57BL; Mice, Knockout; Monophenol Monooxygenase/genetics; Monophenol Monooxygenase/metabolism; Organogenesis; Pigment Epithelium of Eye/ultrastructure; Receptors, G-Protein-Coupled; Reverse Transcriptase Polymerase Chain Reaction; Symporters

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Collection: 01-internacional Database: MEDLINE Main subject: Pigment Epithelium of Eye / Membrane Glycoproteins / Albinism, Ocular / Melanosomes / Eye Proteins Type of study: Prognostic_studies Limits: Animals Language: En Journal: Invest Ophthalmol Vis Sci Year: 2005 Type: Article Affiliation country: Italy

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