RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12

RD3 is a 23 kDa protein implicated in the stable expression of guanylate cyclase in photoreceptor cells. Truncation mutations are responsible for photoreceptor degeneration and severe early-onset vision loss in Leber congenital amaurosis 12 (LCA12) patients, the rd3 mouse and the rcd2 collie. To fur...

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Xehetasun bibliografikoak
Egile Nagusiak: Molday, Laurie L., Djajadi, Hidayat, Yan, Paul, Szczygiel, Lukasz, Boye, Sanford L., Chiodo, Vince A., Gregory-Evans, Kevin, Sarunic, Marinko V., Hauswirth, William W., Molday, Robert S.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2013
Gaiak:
Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3766183/
https://ncbi.nlm.nih.gov/pubmed/23740938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt244
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