Article
Analyzing pre-symptomatic tissue to gain insights into the molecular and mechanistic origins of late-onset degenerative trinucleotide repeat disease.
Nucleic acids research - 9 Jul 2020
Chu Yongjun, Hu Jiaxin, Liang Hanquan, Kanchwala Mohammed, Xing Chao, Beebe Walter, Bowman C Bradley, Gong Xin, Corey David R, Mootha V Vinod
Abstract excerpt
How genetic defects trigger the molecular changes that cause late-onset disease is important for understanding disease progression and therapeutic development. Fuchs' endothelial corneal dystrophy (FECD) is an RNA-mediated disease caused by a trinucleotide CTG expansion in an intron within the TCF4 gene. The mutant intronic CUG RNA is present at one-two copies per cell, posing a challenge to understand how a rare...
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