Article

Analyzing Presymptomatic Tissue to Gain Insights into the Molecular and Mechanistic Origins of Late-Onset Degenerative Trinucleotide Repeat Disease

2020-02-26

Abstract excerpt

<h4>ABSTRACT</h4> 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 CUG expansion in an intron within the TCF4 gene. The mutant intronic CUG RNA is present at 1-2 copies per cell, posing a challenge to unders...

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Literature Corpus work: c01fcced-a9ab-5664-9d18-e0dec63cd66d
DOI: 10.1101/2020.02.25.964403

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