Repeat-Associated Non-ATG (RAN) Translation in Fuchs' Endothelial Corneal Dystrophy
نویسندگان
چکیده
Elisabetta Soragni, Lina Petrosyan, Tommy A. Rinkoski, Eric D. Wieben, Keith H. Baratz, Michael P. Fautsch, and Joel M. Gottesfeld Department of Molecular Medicine, The Scripps Research Institute, La Jolla, California, United States Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, United States Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, United States
منابع مشابه
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Well-established rules of translational initiation have been used as a cornerstone in molecular biology to understand gene expression and to frame fundamental questions on what proteins a cell synthesizes, how proteins work and to predict the consequences of mutations. For a group of neurological diseases caused by the abnormal expansion of short segments of DNA (e.g. CAG•CTG repeats), mutation...
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PURPOSE Fuchs endothelial corneal dystrophy (FECD) is a progressive degenerative disease of the corneal endothelium. It is genetically heterogeneous and follows either an autosomal dominant or sporadic pattern of inheritance. Here, we have explored the association of four previously reported intronic single nucleotide polymorphisms and intronic CTG repeat expansions in TCF4 gene to FECD in an I...
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Fuchs endothelial corneal dystrophy (FECD) is a common disease for which corneal transplantation is the only treatment option in advanced stages, and alternative treatment strategies are urgently required. Expansion (≥50 copies) of a non-coding trinucleotide repeat in TCF4 confers >76-fold risk for FECD in our large cohort of affected individuals. An FECD subject-derived corneal endothelial cel...
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