| Title |
Gene replacement therapy for retinal CNG channelopathies
|
|---|---|
| Published in |
Molecular Genetics and Genomics, July 2013
|
| DOI | 10.1007/s00438-013-0766-4 |
| Pubmed ID | |
| Authors |
Christian Schön, Martin Biel, Stylianos Michalakis |
| Abstract |
Visual phototransduction relies on the function of cyclic nucleotide-gated channels in the rod and cone photoreceptor outer segment plasma membranes. The role of these ion channels is to translate light-triggered changes in the second messenger cyclic guanosine 3'-5'-monophosphate levels into an electrical signal that is further processed within the retinal network and then sent to higher visual centers. Rod and cone photoreceptors express distinct CNG channels. The rod photoreceptor CNG channel is composed of one CNGB1 and three CNGA1 subunits, whereas the cone channel is formed by one CNGB3 and three CNGA3 subunits. Mutations in any of these channel subunits result in severe and currently untreatable retinal degenerative diseases like retinitis pigmentosa or achromatopsia. In this review, we provide an overview of the human diseases and relevant animal models of CNG channelopathies. Furthermore, we summarize recent results from preclinical gene therapy studies using adeno-associated viral vectors and discuss the efficacy and translational potential of these gene therapeutic approaches. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 53 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 2% |
| Unknown | 52 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 15 | 28% |
| Student > Ph. D. Student | 6 | 11% |
| Student > Master | 6 | 11% |
| Professor > Associate Professor | 4 | 8% |
| Student > Doctoral Student | 3 | 6% |
| Other | 13 | 25% |
| Unknown | 6 | 11% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 11 | 21% |
| Medicine and Dentistry | 10 | 19% |
| Biochemistry, Genetics and Molecular Biology | 8 | 15% |
| Neuroscience | 8 | 15% |
| Psychology | 4 | 8% |
| Other | 4 | 8% |
| Unknown | 8 | 15% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 17 July 2013.
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#20,656,820
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Outputs from Molecular Genetics and Genomics
#2,974
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Outputs of similar age from Molecular Genetics and Genomics
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