Редактирование: CNGB3 (раздел)

==Publications==

{{medline-entry
|title=Long-term and age-dependent restoration of visual function in a mouse model of [[CNGB3]]-associated achromatopsia following gene therapy.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/21576125
|abstract=Mutations in the [[CNGB3]] gene account for >50% of all known cases of achromatopsia. Although of early onset, its stationary character and the potential for rapid assessment of restoration of retinal function following therapy renders achromatopsia a very attractive candidate for gene therapy. Here we tested the efficacy of an rAAV2/8 vector containing a human cone arrestin promoter and a human [[CNGB3]] cDNA in [[CNGB3]] deficient mice. Following subretinal delivery of the vector, [[CNGB3]] was detected in both M- and S-cones and resulted in increased levels of [[CNGA3]], increased cone density and survival, improved cone outer segment structure and normal subcellular compartmentalization of cone opsins. Therapy also resulted in long-term improvement of retinal function, with restoration of cone [[ERG]] amplitudes of up to 90% of wild-type and a significant improvement in visual acuity. Remarkably, successful restoration of cone function was observed even when treatment was initiated at 6 months of age; however, restoration of normal visual acuity was only possible in younger animals (e.g. 2-4 weeks old). This study represents achievement of the most substantial restoration of visual function reported to date in an animal model of achromatopsia using a human gene construct, which has the potential to be utilized in clinical trials.
|mesh-terms=* Aging
* Animals
* Arrestins
* Cell Survival
* Color Vision Defects
* Cyclic Nucleotide-Gated Cation Channels
* Disease Models, Animal
* Gene Transfer Techniques
* Genetic Therapy
* Genetic Vectors
* Humans
* Injections
* Mice
* Mice, Transgenic
* Opsins
* Organ Specificity
* Promoter Regions, Genetic
* Protein Transport
* Retina
* Retinal Cone Photoreceptor Cells
* Time Factors
* Vision, Ocular
* Visual Acuity

|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3140821
}}