Article
AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia.
PloS one - 1 Jan 2012
Pang Ji-jing, Deng Wen-Tao, Dai Xufeng, Lei Bo, Everhart Drew, Umino Yumiko, Li Jie, Zhang Keqing, Mao Song, Boye Sanford L, Liu Li, Chiodo Vince A, Liu Xuan, Shi Wei, Tao Ye, Chang Bo, Hauswirth William W
Abstract excerpt
Achromatopsia is a rare autosomal recessive disorder which shows color blindness, severely impaired visual acuity, and extreme sensitivity to bright light. Mutations in the alpha subunits of the cone cyclic nucleotide-gated channels (CNGA3) are responsible for about 1/4 of achromatopsia in the U.S. and Europe. Here, we test whether gene replacement therapy using an AAV5 vector could restore cone-mediated function...
Topics
- Animals
- Color Vision Defects
- Cyclic Nucleotide-Gated Cation Channels
- Dependovirus
- Disease Models, Animal
- Electroretinography
- Gene Expression Regulation
- Genetic Therapy
- Genetic Vectors
- Humans