Results 41 to 50 of about 62,957 (275)
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
A Cation-π Interaction in the Binding Site of the Glycine Receptor Is Mediated by a Phenylalanine Residue [PDF]
, 2008 Cys-loop receptor binding sites characteristically contain many aromatic amino acids. In nicotinic ACh and 5-HT3 receptors, a Trp residue forms a cation-{pi} interaction with the agonist, whereas in GABAA receptors, a Tyr performs this role.
Dougherty, Dennis A. +6 more
core +2 more sources
Viruses and the cellular RNA decay machinery. [PDF]
, 2010 The ability to control cellular and viral gene expression, either globally or selectively, is central to a successful viral infection, and it is also crucial for the host to respond and eradicate pathogens.
Gaglia, Marta, Glaunsinger, Britt
core +1 more source
Extrachromosomal psi+ determinant suppresses nonsense mutations in yeast [PDF]
Journal of Bacteriology, 1979 The extrachromosomal psi+ determinant in the yeast Saccharomyces cerevisiae enhanced the expression of Mendelian UAA suppressors by 6- to 10-fold. The psi+ determinant by itself is a weak UAA suppressor that caused the production of approximately 1% of the normal level of iso-1-cytochrome c in a strain containing the UAA mutation cycl-72.
S W, Liebman, F, Sherman
openaire +2 more sources
Scientific Reports, 2017 In rare cases, monogenetic obesity is caused by nonsense mutations in genes regulating energy balance. A key factor herein is the leptin receptor. Here, we focus on leptin receptor nonsense variants causing obesity, namely the human W31X, murine Y333X ...
Florian Bolze +3 more
doaj +1 more source
Identification and functional analysis of novel phosphorylation sites in the RNA surveillance protein Upf1. [PDF]
, 2013 One third of inherited genetic diseases are caused by mRNAs harboring premature termination codons as a result of nonsense mutations. These aberrant mRNAs are degraded by the Nonsense-Mediated mRNA Decay (NMD) pathway.
Bracho, Dina P +11 more
core +1 more source
Variable readthrough responsiveness of nonsense mutations in hemophilia A
Haematologica, 2020 Readthrough therapy relies on the use of small molecules that enable premature termination codons in mRNA open reading frames to be misinterpreted by the translation machinery, thus allowing the generation of full-length, potentially functional proteins ...
Lluis Martorell +4 more
doaj +1 more source
Stem rust resistance in wheat is suppressed by a subunit of the mediator complex
Nature Communications, 2020 Stem rust is an important disease of wheat and resistance present in some cultivars can be suppressed by the SuSr-D1 locus. Here the authors show that SuSr-D1 encodes a subunit of the Mediator Complex and that nonsense mutations are sufficient to abolish
Colin W. Hiebert +21 more
doaj +1 more source
Microbiology Indonesia, 2008 The termination of translation in Saccharomyces cerevisiae is controlled by two interacting polypeptide chain release factors, eRF1, and eRF3. Two regions in eRF1, at position 281-305 and 411-415, were proposed to be involved on the interaction to eRF3 ...
PRIMA ENDANG SUSILOWATI +3 more
doaj +1 more source
, 2012 The Encyclopedia of Human Behavior, Second Edition is a comprehensive three-volume reference source on human action and reaction, and the thoughts, feelings, and physiological functions behind those ...
Schendan, HE
core +1 more source