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...

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Bibliografiset tiedot
Julkaisussa:Hum Mol Genet
Päätekijät: Rao, Kollu N., Zhang, Wei, Li, Linjing, Anand, Manisha, Khanna, Hemant
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2016
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Articles
Linkit: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
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