Pathophysiological features of the visual cycle, cascade and metabolic pathways in retinitis pigmentosa
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...
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| Format: | Article |
| Language: | Russian |
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Real Time Ltd
2021-03-01
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| Series: | Российский офтальмологический журнал |
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| Online Access: | https://roj.igb.ru/jour/article/view/588 |
| _version_ | 1797878296259592192 |
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| author | M. E. Weener D. S. Atarshchikov V. V. Kadyshev I. V. Zolnikova A. M. Demchinsky D. Barh L. M. Balashova J. M. Salmasi |
| author_facet | M. E. Weener D. S. Atarshchikov V. V. Kadyshev I. V. Zolnikova A. M. Demchinsky D. Barh L. M. Balashova J. M. Salmasi |
| author_sort | M. E. Weener |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T02:30:30Z |
| format | Article |
| id | doaj.art-859c3bbf08444417af37921d6045973e |
| institution | Directory Open Access Journal |
| issn | 2072-0076 2587-5760 |
| language | Russian |
| last_indexed | 2024-04-10T02:30:30Z |
| publishDate | 2021-03-01 |
| publisher | Real Time Ltd |
| record_format | Article |
| series | Российский офтальмологический журнал |
| spelling | doaj.art-859c3bbf08444417af37921d6045973e2023-03-13T07:54:31ZrusReal Time LtdРоссийский офтальмологический журнал2072-00762587-57602021-03-01141808810.21516/2072-0076-2021-14-1-80-88340Pathophysiological features of the visual cycle, cascade and metabolic pathways in retinitis pigmentosaM. E. Weener0D. S. Atarshchikov1V. V. Kadyshev2I. V. Zolnikova3A. M. Demchinsky4D. Barh5L. M. Balashova6J. M. Salmasi7Офтальмик, ОООЦентральная клиническая больница управления делами Президента РФФГБНУ Медико-генетической научный центр им. акад. Н.П. БочковаФГБУ НМИЦ глазных болезней им. Гельмгольца» Минздрава РоссииАНО Лаборатория Сенсор-ТехИнститут интегральной оптики и прикладной биотехнологии (IIOAB)Некоммерческое партнерство Международный научно-практический центр пролиферации тканейФГАОУ ВО Российский национальный исследовательский медицинский университет им. Н.И. Пирогова Минздрава РоссииThis 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.https://roj.igb.ru/jour/article/view/588пигментный ретиниттапеторетинальная абиотрофияпатофизиологиягенетиказрительный циклметаболические пути |
| spellingShingle | M. E. Weener D. S. Atarshchikov V. V. Kadyshev I. V. Zolnikova A. M. Demchinsky D. Barh L. M. Balashova J. M. Salmasi Pathophysiological features of the visual cycle, cascade and metabolic pathways in retinitis pigmentosa Российский офтальмологический журнал пигментный ретинит тапеторетинальная абиотрофия патофизиология генетика зрительный цикл метаболические пути |
| title | Pathophysiological features of the visual cycle, cascade and metabolic pathways in retinitis pigmentosa |
| title_full | Pathophysiological features of the visual cycle, cascade and metabolic pathways in retinitis pigmentosa |
| title_fullStr | Pathophysiological features of the visual cycle, cascade and metabolic pathways in retinitis pigmentosa |
| title_full_unstemmed | Pathophysiological features of the visual cycle, cascade and metabolic pathways in retinitis pigmentosa |
| title_short | Pathophysiological features of the visual cycle, cascade and metabolic pathways in retinitis pigmentosa |
| title_sort | pathophysiological features of the visual cycle cascade and metabolic pathways in retinitis pigmentosa |
| topic | пигментный ретинит тапеторетинальная абиотрофия патофизиология генетика зрительный цикл метаболические пути |
| url | https://roj.igb.ru/jour/article/view/588 |
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