Results 201 to 210 of about 418,363 (219)

An antisense antidote to oncogenic poison exons. [PDF]

Genes Dev
Arvola RM, Singh G.
europepmc   +1 more source

Purine bias in bacterial genes is driven by runaway transcription. [PDF]

Nat Microbiol
Dierksheide KJ, Taggart JC, Johnson GE, Li GW.   +3 more
europepmc   +1 more source

Signatures of nonsense-mediated mRNA decay but no evidence for transcriptional adaptation associated with protein-truncating variants in wild yeast diploids. [PDF]

Mol Biol Evol
Marszałek M, Babik W, Korona R, Tomala K.   +3 more
europepmc   +1 more source

A recurrent <i>CCDC82</i> frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family. [PDF]

Biochem Biophys Rep
Akhter T, Khan S, Mumeen AA, Naeem MA, Riazuddin S, Riazuddin S.   +5 more
europepmc   +1 more source

Investigation of premature termination codon recognition in nonsense mediated mRNA decay

, 2011
Eberle, Andrea, Mühlemann, Oliver, Joncourt, Raphael   +2 more
core  

Mechanism of premature translation termination on a sense codon

Journal of Biological Chemistry, 2018
Accurate translation termination by release factors (RFs) is critical for the integrity of cellular proteomes. Premature termination on sense codons, for example, results in truncated proteins, whose accumulation could be detrimental to the cell ...
Gabriel Demo, Andrei A. Korostelev, Egor Svidritskiy   +2 more
exaly   +2 more sources

Suppression of galactocerebrosidase premature termination codon and rescue of galactocerebrosidase activity in twitcher cells

Journal of Neuroscience Research, 2016
Krabbe's disease (KD) is a degenerative lysosomal storage disease resulting from deficiency of β-galactocerebrosidase activity. Over 100 mutations are known to cause the disease, and these usually occur in compound heterozygote patterns.
Alice Luddi, Paola Piomboni, Elvira Costantino-Ceccarini   +2 more
exaly   +2 more sources

Nucleosome deposition and DNA methylation may participate in the recognition of premature termination codon in nonsense-mediated mRNA decay [PDF]

FEBS Letters, 2010
In non-mammalian eukaryotes, an abnormally long 3′ untranslated region (UTR) is generally thought to be the definitive signal in the recognition of a premature termination codon (PTC) in nonsense-mediated mRNA decay (NMD). However, because the lengths of
Deng-Ke Niu
exaly   +2 more sources

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Premature termination codon mutations in contribute to Alzheimer's disease risk in Belgian patients

Neurobiology of Aging, 2021
Rik Vandenberghe, Peter Paul De Deyn, Bernard J Hanseeuw   +2 more
exaly  

Osteosarcoma in a Marfan patient with a novel premature termination codon in the FBN1 gene

Connective Tissue Research, 2011
Edward J Fox, Timothy M Ritty
exaly