Results 101 to 110 of about 2,306,587 (203)

Rescue of nonsense mutations by amlexanox in human cells

Orphanet Journal of Rare Diseases, 2012
Background Nonsense mutations are at the origin of many cancers and inherited genetic diseases. The consequence of nonsense mutations is often the absence of mutant gene expression due to the activation of an mRNA surveillance mechanism called nonsense ...
Gonzalez-Hilarion Sara, Beghyn Terence, Jia Jieshuang, Debreuck Nadège, Berte Gonzague, Mamchaoui Kamel, Mouly Vincent, Gruenert Dieter C, Déprez Benoit, Lejeune Fabrice   +9 more
doaj   +1 more source

Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD)

Neurobiology of Disease, 2006
The twitcher mouse is a pathologically and enzymatically authentic model of globoid cell leukodystrophy (GLD, Krabbe disease) that has been widely used for the evaluation of potential therapeutic approaches. This naturally occurring mouse model contains a premature stop codon (W339X) in the galactosylceramidase (GALC) gene that abolishes enzymatic ...
Wing C. Lee, Yuen K. Tsoi, Chad A. Dickey, Michael W. DeLucia, Dennis W. Dickson, Christopher B. Eckman   +5 more
openaire   +3 more sources

Investigation of premature termination codon recognition in nonsense-mediated mRNA decay

, 2014
Nonsense-mediated mRNA decay (NMD) is best known for its role in quality control of mRNAs, where it recognizes premature translation termination codons (PTCs) and rapidly degrades the corresponding mRNA. The basic mechanism of NMD appears to be conserved
Joncourt, Raphael
core  

Selective translational repression of truncated proteins from frameshift mutation-derived mRNAs in tumors.

PLoS Biology, 2007
Frameshift and nonsense mutations are common in tumors with microsatellite instability, and mRNAs from these mutated genes have premature termination codons (PTCs). Abnormal mRNAs containing PTCs are normally degraded by the nonsense-mediated mRNA decay (
Kwon Tae You, Long Shan Li, Nam-Gyun Kim, Hyun Ju Kang, Kwi Hye Koh, Yong-Joon Chwae, Kyoung Mi Kim, Yoon Ki Kim, Sung Mi Park, Sung Key Jang, Hoguen Kim   +10 more
doaj   +1 more source

Mechanistic aspects of mRNA targeting for nonsense-mediated mRNA decay in human cells

, 2013
The nonsense-mediated mRNA decay (NMD) pathway is best known as a translation-coupled quality control system that recognizes and degrades aberrant mRNAs with ORF-truncating premature termination codons (PTCs), but a more general role of NMD in ...
Mühlemann, Oliver
core  

The Role of Stress Granules and the Nonsense-mediated mRNA Decay Pathway in Antiviral Defence [PDF]

, 2019
Eukaryotic cells have evolved a number of survival tactics and quality control pathways that are able to counter intrinsic error-prone mechanisms and allow for maintenance of cellular homeostasis in the face of external stresses. This review will discuss
Steiner, Silvio, Contu, Lara, Mühlemann, Oliver, Thiel, Volker   +3 more
core   +2 more sources

The involvement and role of the protein kinase AKT1 in the Nonsense-mediated mRNA decay (NMD)

, 2021
La protéine AKT1, appelée aussi protéine kinase B ou PKB, est un composant central de la voie de signalisation PI3K/AKT/mTOR qui représente une des voies majoritaires des cellules régulant un nombre varié de processus biologiques tels que la prolifération cellulaire, l’apoptose, la survie cellulaire ainsi que l’angiogenèse parmi d’autres.
openaire   +1 more source

Antisense oligonucleotide-directed inhibition of nonsense-mediated mRNA decay

, 2016
Nonsense-mediated mRNA decay (NMD) is a cellular quality-control mechanism that is thought to exacerbate the phenotype of certain pathogenic nonsense mutations by preventing the expression of semi-functional proteins. NMD also limits the efficacy of read-
Tomoki T Nomakuchi, Frank Rigo, Nomakuchi, T. T., Rigo, F., Isabel Aznarez, Krainer, A. R., Aznarez, I., Adrian R Krainer   +7 more
core   +1 more source

SMG6 mediated degradation of nonsense mRNA requires phosphorylation-independent interaction with the helicase domain of UPF1

, 2014
Eukaryotic mRNAs with premature translation-termination codons (PTCs) are recognized and eliminated by nonsense-mediated mRNA decay (NMD). NMD targeted mRNAs can be degraded by different routes that all involve phosphorylated UPF1 (P-UPF1) as a starting ...
Mühlemann, Oliver
core   +1 more source

Therapeutic Nonsense Suppression Modalities: From Small Molecules to Nucleic Acid-Based Approaches

Biomedicines
Nonsense mutations are genetic mutations that create premature termination codons (PTCs), leading to truncated, defective proteins in diseases such as cystic fibrosis, neurofibromatosis type 1, Dravet syndrome, Hurler syndrome, Beta thalassemia ...
Pedro Morais, Rui Zhang, Yi-Tao Yu
doaj   +1 more source