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-...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Proc Natl Acad Sci U S A
Egile Nagusiak: Sun, Xun, Park, James H., Gumerson, Jessica, Wu, Zhijian, Swaroop, Anand, Qian, Haohua, Roll-Mecak, Antonina, Li, Tiansen
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: National Academy of Sciences 2016
Gaiak:
PNAS Plus
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak