Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations

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-...

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Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: Sun, Xun, Park, James H., Gumerson, Jessica, Wu, Zhijian, Swaroop, Anand, Qian, Haohua, Roll-Mecak, Antonina, Li, Tiansen
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2016
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PNAS Plus
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4889371/
https://ncbi.nlm.nih.gov/pubmed/27162334
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1523201113
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