Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity - Zarouchlioti, Christina; Sanchez-Pintado, Beatriz; Hafford Tear, Nathaniel J.; Klein, Pontus; Liskova, Petra; Dulla, Kalyan; Semo, Ma’ayan; Vugler, Anthony A.; Muthusamy, Kirithika; Dudakova, Lubica; Levis, Hannah J.; Skalicka, Pavlina; et al. (American journal of human genetics, 2018)
Keywords: Aged; Animals; antisense oligonucleotide; Cell Nucleus - drug effects; Cell Nucleus - metabolism; Cohort Studies; corneal dystrophy; Endothelial Cells - metabolism; Endothelium, Corneal - pathology; Female; Fuchs endothelial corneal dystrophy; Fuchs' Endothelial Dystrophy - genetics; Fuchs' Endothelial Dystrophy - pathology; Genetic Predisposition to Disease; Humans; Male; Mice, Inbred C57BL; non-coding mutations; Oligonucleotides, Antisense - pharmacology; Organ Specificity; repeat-expansion; Risk Factors; RNA Precursors - genetics; RNA Processing, Post-Transcriptional; RNA Splicing Factors - metabolism; RNA toxicity; RNA, Messenger - metabolism; transcription factor 4; Transcription Factor 4 - genetics; Trinucleotide Repeat Expansion - genetics; triplet repeat-mediated disease; RNA toxicity; repeat-expansion; antisense oligonucleotide; non-coding mutations; corneal dystrophy; Fuchs endothelial corneal dystrophy; triplet repeat-mediated disease; transcription factor 4