Advisor(s)
David Bedwell
Committee Member(s)
James Collawn
Kim Keeling
Matthew Renfrow
Steven Rowe
School
Joint Health Sciences (Interdisciplinary)
Document Type
Dissertation
Department (new version)
Biochemistry and Molecular Genetics
Date of Award
1-6-2025
Abstract
A nonsense mutation is a point mutation in DNA that gives rise to a premature termination codon (PTC) in the open reading frame of the transcribed mRNA. Translation of this PTC-containing transcript terminates prematurely, leading to the creation of truncated non-functional protein. Translational readthrough is one therapeutic option being explored to suppress nonsense mutations that cause disease. Here, we further elucidate amino acid incorporation and the functional consequences of readthrough of nonsense mutations that cause cystic fibrosis. Additionally, we reveal the molecular mechanisms activated by a recently described small molecule readthrough agent, SRI- 41315. Finally, we discuss the various therapeutic approaches currently under investigation to suppress nonsense mutations, including their current limitations.
ProQuest ID
Recommended Citation
Thrasher, Kari, "Mechanistic Insights Of Translational Readthrough To Suppress Nonsense Mutations" (2025). All ETDs from UAB. 7241.
https://digitalcommons.library.uab.edu/etd-collection/7241
