The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells

Leber congenital amaurosis (LCA) caused by mutations in Aryl hydrocarbon receptor interacting protein like-1 (Aipl1) is a severe form of childhood blindness. At 4 weeks of age, a mouse model of LCA lacking AIPL1 exhibits complete degeneration of both rod and cone photoreceptors. Rod cell death occur...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Kirschman, Lindsay T., Kolandaivelu, Saravanan, Frederick, Jeanne M., Dang, Loan, Goldberg, Andrew F.X., Baehr, Wolfgang, Ramamurthy, Visvanathan
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2010
Pynciau:
Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2830831/
https://ncbi.nlm.nih.gov/pubmed/20042464
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp571
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