Ataluren and aminoglycosides stimulate read-through of nonsense codons by orthogonal mechanisms [PDF]
Proceedings of the National Academy of Sciences, 2021 Significance Nonsense mutations giving rise to premature stop codons (PSCs) cause many diseases, creating the need to develop safe and effective translational read-through–inducing drugs (TRIDs). The current best-characterized TRIDs are ataluren and aminoglycosides. Only ataluren has been approved for clinical use, albeit in a limited context.
Martin Y. Ng +4 more
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De novo transcriptome assembly reveals sex-specific selection acting on evolving neo-sex chromosomes in Drosophila miranda. [PDF]
, 2014 BackgroundThe Drosophila miranda neo-sex chromosome system is a useful resource for studying recently evolved sex chromosomes. However, the neo-Y genomic assembly is fragmented due to the accumulation of repetitive sequence.
Bachtrog, Doris, Kaiser, Vera B
core +2 more sources
Binary specification of nonsense codons by splicing and cytoplasmic translation [PDF]
The EMBO Journal, 1998 Premature translation termination codons resulting from nonsense or frameshift mutations are common causes of genetic disorders. Complications arising from the synthesis of C-terminally truncated polypeptides can be avoided by 'nonsense-mediated decay' of the mutant mRNAs.
R, Thermann +7 more
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Characterization of the mIF4G Domains in the RNA Surveillance Protein Upf2p
Current Issues in Molecular Biology, 2023 Thirty percent of all mutations causing human disease generate mRNAs with premature termination codons (PTCs). Recognition and degradation of these PTC-containing mRNAs is carried out by the mechanism known as nonsense-mediated mRNA decay (NMD).
Edgardo M. Colón +5 more
doaj +1 more source
Comparative genome analysis of Wolbachia strain wAu [PDF]
, 2014 BACKGROUND: Wolbachia intracellular bacteria can manipulate the reproduction of their arthropod hosts, including inducing sterility between populations known as cytoplasmic incompatibility (CI). Certain strains have been identified that are unable to
Harris, Simon R. +3 more
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Molecular Therapy: Nucleic Acids, 2021 The androgen receptor (AR) plays a critical role in the development of prostate cancer (PCa) through the activation of androgen-induced cellular proliferation genes.
Daniela Castanotto +14 more
doaj +1 more source
CONTEXT EFFECTS ON NONSENSE CODON SUPPRESSION IN ESCHERICHIA COLI [PDF]
Genetics, 1978 ABSTRACT The influence of mRNA context on nonsense codon suppression has been studied by suppression measurements at one site in the Escherichia coli trpE gene and at two sites in the trpA gene. The ratio of suppression efficiencies of amber and ochre codons at each site (homotopic pairs) has been compared using ochre suppressing ...
S I, Feinstein, S, Altman
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Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development
Biomolecules, 2023 Around 11% of all known gene lesions causing human genetic diseases are nonsense mutations that introduce a premature stop codon (PTC) into the protein-coding gene sequence.
Shan Li +9 more
doaj +1 more source
Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications [PDF]
, 2017 Purpose: Epidermolysis bullosa (EB), the prototype of heritable blistering diseases, is caused by mutations in as many as 19 distinct genes. In this study, we evaluated the molecular basis of EB in 93 families, many of them of unknown subtype. Methods:
Abiri, Maryam +15 more
core +1 more source
BMC Medical Genetics, 2017 Background Breast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5–10% of cases.
Alsmawal A. Elimam +13 more
doaj +1 more source