Ontology highlight
ABSTRACT:
SUBMITTER: Gargiulo A
PROVIDER: S-EPMC2835246 | biostudies-literature | 2009 Aug
REPOSITORIES: biostudies-literature
Gargiulo Annagiusi A Bonetti Ciro C Montefusco Sandro S Neglia Simona S Di Vicino Umberto U Marrocco Elena E Corte Michele Della MD Domenici Luciano L Auricchio Alberto A Surace Enrico M EM
Molecular therapy : the journal of the American Society of Gene Therapy 20090512 8
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-2j)). Here, we show that adult Tyr(c-2j) mice have several retinal functional anomalies associated with photoreceptor loss. To test whether these anomalies are reversible upon TYR complementation, we p ...[more]