Загрузка...
Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E
Ciliary trafficking defects underlie the pathogenesis of severe human ciliopathies, including Joubert Syndrome (JBTS), Bardet-Biedl Syndrome, and some forms of retinitis pigmentosa (RP). Mutations in the ciliary protein RPGR (retinitis pigmentosa GTPase regulator) are common causes of RP-associated...
Сохранить в:
| Опубликовано в: : | Hum Mol Genet |
|---|---|
| Главные авторы: | , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Oxford University Press
2016
|
| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6078598/ https://ncbi.nlm.nih.gov/pubmed/28172980 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw281 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|