Article
Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial.
Human genetics - 1 Mar 2016
Ghazi Nicola G, Abboud Emad B, Nowilaty Sawsan R, Alkuraya Hisham, Alhommadi Abdulrahman, Cai Huimin, Hou Rui, Deng Wen-Tao, Boye Sanford L, Almaghamsi Abdulrahman, Al Saikhan Fahad, Al-Dhibi Hassan, Birch David, Chung Christopher, Colak Dilek, LaVail Matthew M, Vollrath Douglas, Erger Kirsten, Wang Wenqiu, Conlon Thomas, Zhang Kang, Hauswirth William, Alkuraya Fowzan S
Abstract excerpt
MERTK is an essential component of the signaling network that controls phagocytosis in retinal pigment epithelium (RPE), the loss of which results in photoreceptor degeneration. Previous proof-of-concept studies have demonstrated the efficacy of gene therapy using human MERTK (hMERTK) packaged into adeno-associated virus (AAV2) in treating RCS rats and mice with MERTK deficiency. The purpose of this study was to...
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