Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons
نویسندگان
چکیده
منابع مشابه
Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia
Translational readthrough of premature termination codons (PTCs) induced by pharmacological compounds has proven to be an effective way of restoring functional protein expression and reducing symptoms in several genetic disorders. We tested the potential of different concentrations of several aminoglycosides (AAGs) for promoting PTC-readthrough in 5 genes involved in the pathogenesis of primary...
متن کاملThe unfolded protein response affects readthrough of premature termination codons
One-third of monogenic inherited diseases result from premature termination codons (PTCs). Readthrough of in-frame PTCs enables synthesis of full-length functional proteins. However, extended variability in the response to readthrough treatment is found among patients, which correlates with the level of nonsense transcripts. Here, we aimed to reveal cellular pathways affecting this inter-patien...
متن کاملRepair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.
About 12% of human genetic disorders involve premature termination codons (PTCs). Aminoglycoside antibiotics have been proposed for restoring full-length proteins by readthrough of PTC. To assess the efficiency of readthrough, we selected homozygous and compound heterozygous skin fibroblasts from xeroderma pigmentosum (XP) patients with different PTCs in the XPC DNA repair gene. XP patients hav...
متن کاملTranslational readthrough potential of natural termination codons in eucaryotes – The impact of RNA sequence
Termination of protein synthesis is not 100% efficient. A number of natural mechanisms that suppress translation termination exist. One of them is STOP codon readthrough, the process that enables the ribosome to pass through the termination codon in mRNA and continue translation to the next STOP codon in the same reading frame. The efficiency of translational readthrough depends on a variety of...
متن کاملSynthesis and evaluation of compounds that induce readthrough of premature termination codons.
A structure-activity relationship (SAR) study was carried out to identify novel, small molecular weight compounds which induce readthrough of premature termination codons. In particular, analogs of RTC13, 1, were evaluated. In addition, hypothesizing that these compounds exhibit their activity by binding to the ribosome, we prepared the hybrid analogs 13 containing pyrimidine bases and these al...
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ژورنال
عنوان ژورنال: Molecular Medicine
سال: 2018
ISSN: 1076-1551,1528-3658
DOI: 10.1186/s10020-018-0024-7