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 36 for “"CAG repeat"”.
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CAG repeat expansions induce cytoplasmic RNA aggregation
Expansions of ‘CAG’ trinucleotide repeats in the genome can cause over a dozen diseases, including Huntington disease and several spinocerebellar ataxias. Short tracts of these ‘CAG’ repeats are benign; however, mutant alleles that harbor an abnormally large number of consecutive ‘CAG’ motifs can …
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Effects of sex, free testosterone, and androgen receptor cag repeat number on spatial cognition and virtual navigation performance
… of sex, testosterone, and androgen receptor CAG repeat number on spatial performance and experience in a group of healthy young men and women. The hypothesis that men would outperform women on measures of spatial skills was largely supported, with some caveats. Predictions that testosterone …
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Detailed investigation of the unstable (CAG) repeat and the immediate surrounding region of the IT15 gene in some South African families with Huntington disease
The primary aim of this study was to investigate the origins of the HD mutation in South Africa (SA) by constructing a single nucleotide polymorphism (SNP) haplotype around the IT15 gene and to determine how many haplotypes there are in SA. Haplotypes were created by genotyping 6 SNPs in a total of …
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Associations Between Testosterone, Androgen Receptor Polymorphism, And Mood
… in the androgen receptor (polyglutamine [CAG] repeat length) may be important for this relationship. However, the relationship between testosterone, androgen receptor CAG repeat length, and depressive affect remains inconclusive. The current thesis examined the association between …
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Functional characterisation of the CAG polymorphism in the androgen receptor- in vitro and in vivo
… In the AR coding region there is a polymorphic CAG repeat encoding a stretch of the amino acid glutamine (Q). The repeat length modulates receptor activity and is normally distributed between 10-30 CAG with a median length of 22 repeats in white men. At the start of this work, a negative linear …
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DNA Damage Response in Huntington’s Disease and Naked Mole Rat Brain Ageing
… also investigated other DDR genes involved with repeat expansion in HD and identified potential modifiers of CAG expansion such as MBD4, PMS2, and RNASEH2A. Several hits from this arrayed CRISPR screen for modifiers of CAG repeat expansion converged on the regulation of R-loops, suggesting that …
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Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene
… disease caused by the expansion of a CAG repeat within the ataxin-7 gene. The South African SCA7 population has been shown to have arisen due to a founder effect, and a single nucleotide polymorphism (SNP) within ataxin-7 has been linked to the SCA7 mutation in all South African …
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Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study
… disease caused by a pathogenic expansion of a CAG repeat within the ataxin 7 gene, resulting in an expanded polyglutamine tract in the ATXN7 protein. SCA7 patients suffer from selective degeneration of cerebellar Purkinje neurons and retinal photoreceptors, which leads to the development of …
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New Insights into the Roles of FAN1 Nuclease in Genome Maintenance and Disease
… (ICLs), and the expansion of trinucleotide repeats. ICLs are highly deleterious lesions that disrupt replication, are destructive to dividing cells, and are extremely toxic to the hematopoietic system. The replication-dependent Fanconi anemia (FA) pathway defends against ICL toxicity in …
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Genetic, environmental and life-style effects on androgen receptor function
… (AR). The AR gene contains a polymorphic CAG repeat, encoding a stretch of glutamines, affecting the transcriptional activity of the AR. Prostate specific antigen (PSA) is a downstream target and is commonly used in the screening of prostate cancer. The relationship between CAG number and …
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Role of The Gcn5 Histone Acetyltransferase In Spinocerebellar Ataxia Type 7 and In Immature Neurons
… disease caused by expansion of a CAG repeat encoding a polyglutamine tract in ATXN7, a component of the SAGA histone acetyltransferase (HAT) complex. Previous studies provided conflicting evidence regarding the effects of polyQ-ATXN7 on the activity of Gcn5, the HAT catalytic …
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The identification of chemical compounds that decrease cellular levels of toxic Huntington's disease protein through a novel cell-based assay
… inherit the IT15 gene with an expansion of the CAG repeat region inevitably succumb to increasingly sever motor, psychological, and cognitive symptoms. I sought to develop an assay system with the capability for identification of chemical compounds that selectively decrease the intracellular …
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Beyond the basal ganglia
… Interestingly, weight loss increases with higher CAG repeat number in the mutant gene in both HD patients and R6/2 mice. This suggests that mutant huntingtin affects metabolic rate in a CAG repeat length dependant manner. The mechanism underlying this is unclear, but several regulators of …
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Understanding Huntington's Disease pathogenesis using next generation sequencing analyses
Huntington's disease is one of nine expanded (CAG) repeat disorders. The expansion in Huntington's disease lies in the first exon of the huntingtin (HTT) gene and is pathogenic when (CAG)>/= 40 . Individuals with Huntington's disease develop motor, cognitive, and psychiatric symptoms in adulthood. …
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Molecular Genetic Analysis of Spinocerebellar Ataxia Type 7 and a Further Study on the RNA Interference Analysis
… caused by expansion of an unstable trinucleotide CAG repeat in ATXN7 gene which encodes Ataxin-7 protein. Normal ATXN7 alleles contain 4-35 CAG repeats. Expansion of CAG repeat in the mutant allele ranges from 36 to 460, with repeat length inversely correlated to the age of disease onset. However …
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Die Rolle von Varianten des Kalzium-aktivierten Kaliumkanals KCNN3 bei sporadischer Migräne mit und ohne Aura
… Arbeit untersucht, inwiefern ein hochpolymorpher CAG-repeat-tragender Abschnitt des KCNN3-Gens zur Entstehung von sporadischer Migräne mit bzw. ohne Aura beiträgt. Der methodische Teil dieser Arbeit beinhaltete die Etablierung neuer Methoden zum Nachweis von triplet-repeat-Längenpolymorphismen. …
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The role of gene expression and aging in SCA1
… 1 is an autosomal dominant disorder caused by a CAG repeat expansion encoding a polyglutamine tract, where patients present with a lack of motor coordination including ataxia. The disease is characterized pathologically by loss of Purkinje cells (PCs) in the cerebellar cortex and neuronal loss in …
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Neurochemical Measurements in Rodents that Model Huntingtion's Disease and Oxidative Stress
… neurodegenerative movement disorder caused by a CAG repeat expansion on the gene encoding the huntinin protein. HD is characterized by preferential and extensive striatal degeneration. We used fast-scan cyclic voltammetry to measure dopamine release and reserve pool dopamine in genetically and …
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Biological Consequences of Polyglutamine Repeats in Drosophila Muscle
Polyglutamine (polyQ) disease occurs by CAG repeat expansion, encoding a glutamine tract in the affected protein. Accumulation of these mutant polyQ proteins leads to formation of insoluble protein aggregates that impair many vital cellular processes. This manifests in neurodegenerative symptoms …
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Modelling neurodegenerative diseases in human iPSC-derived neurons
… from a healthy donor and an SBMA patient, the CAG repeat of the endogenous androgen receptor (AR) gene was CRISPR-edited to encode a series of lengths or an early stop codon. However, AR expression was silenced upon transcription factor-mediated differentiation to a lower motor neuron-like …
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