Article
Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations.
Proceedings of the National Academy of Sciences of the United States of America - 24 May 2016
Sun Xun, Park James H, Gumerson Jessica, Wu Zhijian, Swaroop Anand, Qian Haohua, Roll-Mecak Antonina, Li Tiansen
Abstract excerpt
Mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene are a major cause of retinitis pigmentosa, a blinding retinal disease resulting from photoreceptor degeneration. A photoreceptor specific ORF15 variant of RPGR (RPGR(ORF15)), carrying multiple Glu-Gly tandem repeats and a C-terminal basic domain of unknown function, localizes to the connecting cilium where it is thought to regulate cargo...
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