Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 22 for “"Nonsense-mediated Decay"”.
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An investigation of gene expression, alternative splicing and nonsense-mediated decay in potato in response to Phytophthora infestans infection
… mRNA stability through the activation of the nonsense-mediated decay (NMD) pathway; a conserved RNA surveillance mechanism. NMD targets aberrant endogenous transcripts for degradation. These transcripts contain features that allow them to be recognised by the NMD machinery: for example, …
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Régulation de voies de signalisation par deux acteurs de la voie Nonsense-mediated Decay, Dhx34 et Nbas: la cas particulier de l'adénohypophyse.
… appearance of aberrant mRNAs. Amongst them the Nonsense-Mediated Decay (NMD) pathway is the surveillance mechanism that detects and degrades mRNAs containing premature termination codons (PTCs). The translation of transcripts containing such nonsense codon within the coding sequence would leads …
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The identification and characterization of the interaction between Upf1 and PAB1 during nonsense-mediated decay & the identification of novel protein complexes associated with translation termination factor eRF1
… pathways still under investigation is nonsense-mediated decay (NMD), which rapidly degrades mRNAs that contain a premature stop codon (PTC). I identified that the interaction between Upfl, which is required for NMD, and PAB1 occurs via the RRM1 domain of PAB1 in the yeast Saccharomyces …
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Regulation of the hif-1-dependent hypoxic stress response by C. elegans
… First, we discovered that loss of the conserved nonsense-mediated decay (NMD) pathway, an RNA surveillance mechanism that degrades aberrant mRNA transcripts with premature termination codons, suppressed the egl-9(lf)-induced changes in egg laying and defecation and caused increased hypoxia …
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A clinical and molecular genetic study into familial and sporadic Parkinson’s Disease
… two of these mutations and provide evidence that nonsense mediated decay (NMD) is occurring in LRRK2-PD. In this thesis I also present data from an extensive screen of LRRK2 in UK subjects with sporadic PD (sPD). This confirms the importance of pathogenic LRRK2 mutations in UK sPD. In addition I …
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Twist of messenger Fate: novel mechanisms for TDP43 in modulating mRNA decay and alternative polyadenylation
… suggesting a still undiscovered function in nonsense-mediated decay. We demonstrated that TDP43 acts translation- and SMG1-dependently as a mRNA decay enhancer of specific transcripts by binding their 3’UTR. In particular, it leads to the down-regulation of transcripts with a long 3’UTR. From …
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Three genes from Solanum chacoense coding for squalene synthase
… the 3'UTR. This feature may have a role in the nonsense-mediated decay of incomplete sqs mRNAs. A partial SQS polypeptide retaining catalytic activity but lacking the membrane anchoring domain could adversely affect a cell with the randomly distributed accumulation of squalene. The mRNA of …
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Investigations on the role of SLP-65 and other B cell signaling proteins in human leukemia
… B cells with a central role in BCR and pre-BCR mediated signal transduction. By providing multiple binding sites for other cellular effector molecules it assembles various proteins into one signaling complex. Therefore SLP-65 is involved in the control of different signaling pathways important …
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Novel Aspects of the Response to Cellular Stress and Intracellular Bacterial Pathogens
… genes that involves the coupling of AS and nonsense-mediated decay (NMD). Lastly, this thesis underscores the importance of stress response pathways in the maintenance of cellular homeostasis and survival by highlighting a novel role for the natural compound isoginkgetin as an inhibitor of …
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Alternative splicing in the regulation of the barley circadian clock
… of productive mRNAs through alternative splicing/Nonsense-Mediated Decay (AS/NMD). An objective of this thesis was to determine whether clock genes and their modes of regulation are conserved in other higher plants, such as barley. By use of a robust in silico analysis and nucleotide sequence of …
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A DE NOVO COMPUTATIONAL DISCOVERY PLATFORM FROM RNA TO PROTEIN
… factor, impairs RNA metabolism by inhibiting Nonsense-Mediated Decay, thus leading to the accumulation of incomplete transcripts and truncated proteins. De novo transcriptome assembly allows detection of several unannotated genes and transcripts, including potential novel DUX4 targets, whereas …
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Molecular and functional characterisation of circadian clock regulated RNA-binding proteins from Arabidopsis thaliana
… leads to alternative splicing and concomitant decay of endogenous AtGRP7 transcript. This indicates that high affinity RNA binding is required for the negative auto-regulation of AtGRP7 in vivo. This is the first example for an RNP1 mutation showing a direct correlation of binding affinity in …
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DECIPHERING AND EXPLOITING ANEUPLOIDY IN CANCER
… a consequent increase in the activity of the nonsense-mediated decay (NMD) and microRNA-mediated mRNA silencing pathways, making them more vulnerable to disruptions in RNA degradation pathway. Importantly, the elevated dependency of aneuploid cells on the RAF/MEK/ERK pathway and intact RNA …
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Characterizing population-level variation in mRNA splicing and implications for human genetic interpretation
… genes in a manner consistent with inducing nonsense-mediated decay (NMD). We highlight a couple of such variants linked to diseases, such as those associated with heart disease. These findings demonstrate that quantifying the population frequency of splicing events can reveal novel axes of …
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Molekulare Charakterisierung des PKHD1-Gens und seines Proteins Polyductin bei autosomal rezessiver polyzystischer Nierenerkrankung
… level. Additionally a possible effect of nonsense mediated decay (NMD) in ARPKD has been shown for the first time and it seems as if NMD may has been circumvendet in at least one of the analysed clinically milder affected cases. Therefore mechanisms above DNA-level modifying the phenotype …
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Aberrant and Alternative Splicing of von Willebrand Factor
… mutation which causes Type 1 VWD through nonsense mediated decay (NMD) of the premature termination codon (PTC) containing VWF transcript skipping exon 38. In-frame aberrant transcripts were found to be decreased under high shear stress, whereas PTC-inducing transcripts were increased. The …
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From cradle to grave: The influence of mRNA metabolism on plant stress responses
… mutants with inhibited activity of the major RNA decay factor XRN. Here, through analysis of RNA sequencing and RNA polymerase II chromatin immunoprecipitation (ChIP), evidence of transcriptional read-through was identified as a consequence of defective XRN-mediated termination. Furthermore, this …
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From cradle to grave: The influence of mRNA metabolism on plant stress responses
… mutants with inhibited activity of the major RNA decay factor XRN. Here, through analysis of RNA sequencing and RNA polymerase II chromatin immunoprecipitation (ChIP), evidence of transcriptional read-through was identified as a consequence of defective XRN-mediated termination. Furthermore, this …
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