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 4 of 4 for “"Aicardi-Goutieres"”.
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AN INVESTIGATION OF THE REDOX REGULATION OF THE DEOXYNUCLEOTIDE TRIPHOSPHOHYDROLASE SAMHD1 AND ITS ROLE IN NUCLEOTIDE HOMEOSTASIS
The purpose of this study was to investigate the regulation of SAMHD1 and its relation to nucleotide metabolism and cell cycle progression. Phosphorylation of SAMHD1 is the most extensively documented means of regulation. While questions still remain regarding regulation of SAMHD1 by …
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TREX1 AUTOIMMUNE DISEASE MUTANTS REVEAL DIMERIC STRUCTURE REQUIREMENTS AND THE C-TERMINAL REGION OF TREX1 CONTROLS CELL LOCALIZATION THROUGH UBIQUITINATION
… in systemic lupus erythematosus (SLE) and Aicardi-Goutières syndrome (AGS). The prevalence of this mutation in autoimmune disease and our finding that this mutation affects the activity of the opposing protomer provides direct evidence that TREX1 activity is dependent on a dimeric …
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A-to-I RNA Editing in Human Cells
… inherited mutations leads to disorders such as Aicardi-Goutieres syndrome, an inflammatory disease that manifests in the brain and skin, and dyschromatosis symmetrica hereditaria, a skin pigmentation disorder. ADAR1 is the primary A-to-I editor of RNA in humans, and the majority of edit sites …