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 6 of 6 for “"Aicardi-Goutières Syndrome (AGS)"”.
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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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Understanding of Intrinsic Sources of DNA Damage that Drive Human Disease: A Foray into the Study of DNA Interstrand Crosslinks and Genome-Embedded Ribonucleotides
… remove genome-embedded ribonucleotides leads to Aicardi-Goutières Syndrome (AGS), a rare autosomal recessive neurological disorder, which clinically mimics a congenital viral infection. Part I of this thesis focuses on the study of the endogenous sources of ICLs in human oral keratinocytes, the …
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Roles of Cyclic GMP-AMP Synthase in Immune Defense Against Retroviruses and Autoimmunity
… mutations in TREX1 cause the human disease Aicardi-Goutières syndrome (AGS). AGS manifests with abnormal type I IFN production and inflammation in multiple organs. Trex1-/- mice exhibit autoimmune and inflammatory phenotypes that are associated with elevated expression of IFN-induced genes …
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The TREX1 3' Exonuclease and Autoimmune Disease: Structural and Biochemical Analysis of Disease Mutants Involved in Autoimmune Dysfunction
… cause of multiple autoimmune diseases including Aicardi-Goutières syndrome (AGS), familial chilblain lupus (FCL), systemic lupus erythematosus (SLE), and retinal vasculopathy and cerebral leukodystrophy (RVCL). Several cellular roles have been proposed for TREX1 including degradation of nicked …
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Ribonuclease H2, RNA:DNA hybrids and innate immunity
… in patients with autoimmune diseases, including Aicardi-Goutières syndrome (AGS). This rare childhood inflammatory disorder is characterised by the presence of high levels of the antiviral cytokine interferon-α in the cerebrospinal fluid and blood, which is thought to be produced as a consequence …
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Studies of the MYM-type zinc finger protein ZMYM3
… DNARNA hybrids. Mutations in RNase H2 result in Aicardi–Goutières syndrome (AGS), a rare inflammatory disorder notable for being a ‘mendelian mimic’ of congenital viral brain infection. Some AGS-associated mutations in the RNase H2B subunit do not affect the catalytic activity of the RNase H2 *in …