Stop Codon Context-Specific Induction of Translational Readthrough [PDF]
Biomolecules, 2021 Premature termination codon (PTC) mutations account for approximately 10% of pathogenic variants in monogenic diseases. Stimulation of translational readthrough, also known as stop codon suppression, using translational readthrough-inducing drugs (TRIDs)
Sven Thoms, Yelena Sargsyan
exaly +4 more sources
Novel compounds that synergize with aminoglycoside G418 or eRF3 degraders for translational readthrough of nonsense mutant TP53 and PTEN [PDF]
RNA Biology, 2023 The TP53 and PTEN tumour suppressor genes are inactivated by nonsense mutations in a significant fraction of human tumours. TP53 nonsense mutant tumours account for approximately one million new cancer cases per year worldwide.
Matko Čančer +2 more
exaly +3 more sources
Pharmacological induction of translational readthrough of nonsense mutations in the retinoblastoma (RB1) gene. [PDF]
PLoS ONE, 2023 The retinoblastoma protein (Rb) is encoded by the RB1 tumor suppressor gene. Inactivation of RB1 by inherited or somatic mutation occurs in retinoblastoma and various other types of tumors.
Mireia Palomar-Siles +3 more
doaj +2 more sources
Cellular senescence limits translational readthrough [PDF]
Biology Open, 2021 The origin and evolution of cancer cells is considered to be mainly fueled by DNA mutations. Although translation errors could also expand the cellular proteome, their role in cancer biology remains poorly understood.
Neylen del Toro +10 more
doaj +2 more sources
Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association [PDF]
Haematologica, 2022 In hemophilia A, F8 nonsense variants, and particularly those affecting the large factor VIII (FVIII) B domain that is dispensable for coagulant activity, display lower association with replacement therapy-related anti-FVIII inhibitory antibodies as ...
Maria Francesca Testa +8 more
doaj +2 more sources
MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution [PDF]
Molecular Genetics and Metabolism Reports, 2021 Mutations in the MMADHC gene cause cobalamin D disorder (cblD), an autosomal recessive inborn disease with defects in intracellular cobalamin (cbl, vitamin B12) metabolism.
Leire Torices +5 more
doaj +2 more sources
Complex and simple translational readthrough signals in pea enation mosaic virus 1 and potato leafroll virus, respectively. [PDF]
PLoS Pathogens, 2022 Different essential viral proteins are translated via programmed stop codon readthrough. Pea enation mosaic virus 1 (PEMV1) and potato leafroll virus (PLRV) are related positive-sense RNA plant viruses in the family Solemoviridae, and are type members of
Tamari Chkuaseli, K Andrew White
doaj +2 more sources
Translational readthrough of nonsense mutant TP53 by mRNA incorporation of 5-Fluorouridine [PDF]
Cell Death and Disease, 2022 TP53 nonsense mutations in cancer produce truncated inactive p53 protein. We show that 5-FU metabolite 5-Fluorouridine (FUr) induces full-length p53 in human tumor cells carrying R213X nonsense mutant TP53.
Mireia Palomar-Siles +12 more
doaj +2 more sources
A system for coordinated analysis of translational readthrough and nonsense-mediated mRNA decay. [PDF]
PLoS ONE, 2017 The nonsense-mediated mRNA decay (NMD) pathway degrades mRNAs containing premature termination codons, limiting the expression of potentially deleterious truncated proteins.
Stacey L Baker, J Robert Hogg
doaj +2 more sources
Functional Translational Readthrough: A Systems Biology Perspective. [PDF]
PLoS Genetics, 2016 Translational readthrough (TR) has come into renewed focus because systems biology approaches have identified the first human genes undergoing functional translational readthrough (FTR).
Fabian Schueren, Sven Thoms
doaj +2 more sources