Pathophysiological features of the visual cycle, cascade and metabolic pathways in retinitis pigmentosa
| Autor: | M. E. Weener, D.S. Atarshchikov, D. Barh, J.M. Salmasi, V. V. Kadyshev, I. V. Zolnikova, L.M. Balashova, A. M. Demchinsky |
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| Jazyk: | ruština |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Candidate gene genetic structures Biology Interphotoreceptor matrix visual cycle 03 medical and health sciences 0302 clinical medicine retinitis pigmentosa Retinitis pigmentosa medicine metabolic pathways genetics Gene pathophysiology Retina Retinal pigment epithelium Cilium RE1-994 medicine.disease eye diseases tapetoretinal abiotrophy Ophthalmology 030104 developmental biology medicine.anatomical_structure 030221 ophthalmology & optometry sense organs Neuroscience Visual phototransduction |
| Zdroj: | Российский офтальмологический журнал, Vol 14, Iss 1, Pp 80-88 (2021) |
| ISSN: | 2587-5760 2072-0076 |
| Popis: | This literature review offers a detailed description of the genes and proteins involved in pathophysiological processes in isolated retinitis pigmentosa (RP). To date, 84 genes and 7 candidate genes have been described for non-syndromic RP. Each of these genes encodes a protein that plays a role in vital processes in the retina and / or retinal pigment epithelium, including the cascade of phototransduction (transmission of the visual signal), the visual cycle, ciliary transport, the environment of photoreceptor cilia and the interphotoreceptor matrix. The identification and study of pathophysiological pathways affected in non-syndromic RP is important for understanding the main pathogenic ways and developing approaches to target treatment. |
| Databáze: | OpenAIRE |
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