Stop Codon Context-Specific Induction of Translational Readthrough [PDF]
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)
Mirco Schilff +3 more
doaj +9 more sources
Cellular senescence limits translational readthrough [PDF]
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 +5 more sources
The functional readthrough extension of malate dehydrogenase reveals a modification of the genetic code [PDF]
Translational readthrough gives rise to C-terminally extended proteins, thereby providing the cell with new protein isoforms. These may have different properties from the parental proteins if the extensions contain functional domains.
Julia Hofhuis +6 more
doaj +5 more sources
Translational readthrough of nonsense mutant TP53 by mRNA incorporation of 5-Fluorouridine [PDF]
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 +4 more sources
Pharmacological induction of translational readthrough of nonsense mutations in the retinoblastoma (RB1) gene. [PDF]
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 +4 more sources
Novel compounds that synergize with aminoglycoside G418 or eRF3 degraders for translational readthrough of nonsense mutant TP53 and PTEN [PDF]
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.
Angelos Heldin +9 more
doaj +2 more sources
Heterologous stop codon readthrough of metazoan readthrough candidates in yeast. [PDF]
Recent analysis of genomic signatures in mammals, flies, and worms indicates that functional translational stop codon readthrough is considerably more abundant in metazoa than previously recognized, but this analysis provides only limited clues about the
Clara S Chan +2 more
doaj +5 more sources
Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association [PDF]
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]
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]
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

