AAV-mediated Tyrosinase Gene Transfer Restores Melanogenesis and Retinal Function in a Model of Oculo-cutaneous Albinism Type I (OCA1)

Oculo-cutaneous albinism type 1 (OCA1) is characterized by congenital hypopigmentation and is due to mutations in the TYROSINASE gene (TYR). In this study, we have characterized the morpho-functional consequences of the lack of tyrosinase activity in the spontaneous null mouse model of OCA1 (Tyr(c-2...

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Autores principales: Gargiulo, Annagiusi, Bonetti, Ciro, Montefusco, Sandro, Neglia, Simona, Di Vicino, Umberto, Marrocco, Elena, Corte, Michele Della, Domenici, Luciano, Auricchio, Alberto, Surace, Enrico M
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2009
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Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2835246/
https://ncbi.nlm.nih.gov/pubmed/19436266
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/mt.2009.112
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