Results 31 to 40 of about 42,487 (241)

Evolution of termination codons of proteins and the TAG-TGA paradox

open access: yesScientific Reports, 2023
In most eukaryotes and prokaryotes TGA is used at a significantly higher frequency than TAG as termination codon of protein-coding genes. Although this phenomenon has been recognized several years ago, there is no generally accepted explanation for the ...
Mária Trexler   +3 more
doaj   +1 more source

CRISPR-induced exon skipping is dependent on premature termination codon mutations

open access: yesGenome Biology, 2018
In previous studies, CRISPR/Cas9 was shown to induce unexpected exon skipping; however, the mechanism by which this phenomenon is triggered is controversial.
Tingting Sui   +7 more
doaj   +1 more source

Ataluren and aminoglycosides stimulate read-through of nonsense codons by orthogonal mechanisms [PDF]

open access: yesProceedings 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
openaire   +2 more sources

Binary specification of nonsense codons by splicing and cytoplasmic translation [PDF]

open access: yesThe 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
openaire   +2 more sources

Characterization of the mIF4G Domains in the RNA Surveillance Protein Upf2p

open access: yesCurrent 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

A Multifunctional LNA Oligonucleotide-Based Strategy Blocks AR Expression and Transactivation Activity in PCa Cells

open access: yesMolecular 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]

open access: yesGenetics, 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
openaire   +2 more sources

Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development

open access: yesBiomolecules, 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

Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer

open access: yesBMC 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

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

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