Genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model of Leber congenital amaurosis

Mutations in RPE65 or lecithin-retinol acyltransferase (LRAT) disrupt 11-cis-retinal synthesis and cause Leber congenital amaurosis (LCA), a severe hereditary blindness occurring in early childhood. The pathology is attributed to a combination of 11-cis-retinal deficiency and photoreceptor degenerat...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Mol Genet
Prif Awduron: Zhang, Tao, Enemchukwu, Nduka O., Jones, Alex, Wang, Shixian, Dennis, Emily, Watt, Carl B., Pugh, Edward N., Fu, Yingbin
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2015
Pynciau:
Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4351380/
https://ncbi.nlm.nih.gov/pubmed/25416279
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu588
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