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Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.
Lachke SA, Alkuraya FS, Kneeland SC, Ohn T, Aboukhalil A, Howell GR, Saadi I, Cavallesco R, Yue Y, Tsai AC, Nair KS, Cosma MI, Smith RS, Hodges E, Alfadhli SM, Al-Hajeri A, Shamseldin HE, Behbehani A, Hannon GJ, Bulyk ML, Drack AV, Anderson PJ, John SW, Maas RL. Lachke SA, et al. Among authors: ohn t. Science. 2011 Mar 25;331(6024):1571-6. doi: 10.1126/science.1195970. Science. 2011. PMID: 21436445 Free PMC article.
NEDDylation promotes stress granule assembly.
Jayabalan AK, Sanchez A, Park RY, Yoon SP, Kang GY, Baek JH, Anderson P, Kee Y, Ohn T. Jayabalan AK, et al. Among authors: ohn t. Nat Commun. 2016 Jul 6;7:12125. doi: 10.1038/ncomms12125. Nat Commun. 2016. PMID: 27381497 Free PMC article.
47 results