Article
Properties of Non-Aminoglycoside Compounds Used to Stimulate Translational Readthrough of PTC Mutations in Primary Ciliary Dyskinesia.
International journal of molecular sciences - 7 May 2021
Dabrowski Maciej, Bukowy-Bieryllo Zuzanna, Jackson Claire L, Zietkiewicz Ewa
Abstract excerpt
Primary ciliary dyskinesia (PCD) is a rare disease with autosomal recessive inheritance, caused mostly by bi-allelic gene mutations that impair motile cilia structure and function. Currently, there are no causal treatments for PCD. In many disease models, translational readthrough of premature termination codons (PTC-readthrough) induced by aminoglycosides has been proposed as an effective way of restoring...
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