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 50 for “"Polyglutamine"”.
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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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Polyglutamine monomer structure and its implications for molecular self-assembly
Polyglutamine is a naturally occurring peptide found within several proteins in neuronal cells of the brain, and its aggregation has been implicated in several neurodegenerative diseases, including Huntington's disease. The resulting aggregates have been demonstrated to possess ~-sheet structure, …
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Regulation of the redox homeostasis during polyglutamine misfolding in Huntington’s Disease
… several cellular models of intracellular polyglutamine (polyQ) protein misfolding were established for mechanistic studies.<br/><br/>Various in vitro transient and stable cell expression systems expressing an N-terminal fragment of huntingtin (htt) (httExon 1, httEx1) with/or without a …
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Genetic and biochemical analysis of the Drosophila melanogaster homolog of the human SCA2 gene
The polyglutamine repeat diseases are a group of dominantly inherited neurodegenerative disorders characterized by progressive degeneration of specific neuronal populations and a shared mutational mechanism involving expansion of a glutamine-encoding repeat in the corresponding genes. Work on …
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Investigating toxicity in Drosophila models of Huntington's Disease and Huntington's Disease-Like 2
The polyglutamine diseases are the most common form of inherited neurodegenerative disorders. Each of the polyglutamine diseases stems from the same underlying cause: a CAG expansion mutation in the coding region of a gene. This gives rise to a protein with an expanded glutamine repeat stretch. …
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Native Functions of the Androgen Receptor are Essential to Pathogenesis in a Drosophila Model of Spinobulbar Muscular Atrophy
… cord. The disease is caused by expansion of a polyglutamine tract in the androgen receptor (AR) and is dependent on exposure to AR ligand. The expanded polyglutamine tract confers toxic function to the protein through unknown mechanisms, although the ligand-dependent nature of SBMA suggests …
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RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7
The polyglutamine disorders are a subgroup of inherited neurodegenerative disorders with a common mutation which confers toxicity via a polyglutamine tract in the protein leading ultimately to various forms of neurodegeneration. One of these disorders, spinocerebellar ataxia 7 (SCA7) exists at a …
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Characterization of a Drosophila model of Huntington's disease
… dominant neurological disorder caused by a polyglutamine (polyQ) repeat expansion in the huntingtin (Htt) protein. The disease is characterized by neurodegeneration and formation of neuronal intracellular inclusions primarily in the striatum and cortex, leading to personality changes, motor …
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Protein Assembly for a Functional Fibrous Product
… storage conditions or through fusion. Elongated polyglutamine peptides cause many neurodegenerative diseases as they assemble. In this thesis, a polyglutamine peptide (Q77) was fused with functional partners to direct the protein assembly in vitro. The role of the polyglutamine was studied during …
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Modulation of Huntington's disease-associated phenotypes by the striatal-enriched transcription factor Foxp2
… We note that Foxp2 encodes the longest polyglutamine repeat protein in the human reference genome, and we show that it can be sequestered into aggregates with polyglutamine-expanded mutant HTT protein. Foxp2 overexpression in HD model mice leads to altered expression of several genes …
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The role of gene expression and aging in SCA1
… 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 brain stem nuclei and …
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Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study
… 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 various neurological symptoms, and blindness. SCA7 is considered …
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Associations Between Testosterone, Androgen Receptor Polymorphism, And Mood
… Genetic variability 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 …
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Ataxin-1 in cognition and mood
… and Atxn178Q/2Q mice to compare SCA1-like polyglutamine expansions of different lengths; and Purkinje cell specific Pcp2-ATXN1[82Q] mice to determine the cerebellar contribution. Atxn1-/- and Atxn1154Q/2Q mice showed cognitive deficits. Reduced hippocampal neurogenesis in Atxn1-/- mice may …
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Factors modifying the aggregation of atrophin-1 acting in cis and in trans
Ten polyQ (polyglutamine) diseases constitute a group of hereditary, neurodegenerative, lethal disorders, characterized by neuronal loss and motor and cognitive impairments. The only common molecular feature of polyQ disease-associated proteins is the homopolymeric polyglutamine repeat. The …
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Investigating the protein quality control pathways that prevent protein aggregation in the social amoeba Dictyostelium discoideum
… discoideum, an organism resistant to polyglutamine (polyQ) protein aggregation and whose proteostasis pathways have not been intensively studied. Serine- rich chaperone protein 1 (SRCP1), a Dictyostelium-specific chaperone, was previously found to prevent aggregation of exon 1 of the …
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Role of The Gcn5 Histone Acetyltransferase In Spinocerebellar Ataxia Type 7 and In Immature Neurons
… 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 subunit of SAGA. Here I …
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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
… intracellular levels of disease-causing expanded polyglutamine huntingtin (Htt) protein without reducing the intracellular levels of the potentially protective normal Htt. To achieve this goal I designed a cell-based assay using the enzymatic activity of E. coli [beta]-galactosidase as a reporter …
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Isolation, engineering, and characterization of intracellular antibodies specific for the huntingtin protein
… disorder caused by an expansion in the number of polyglutamine-encoding CAG repeats in the gene that encodes the huntingtin (htt) protein. A property of the mutant protein that is intimately involved in the development of the disease is the propensity of an N-terminal proteolytic htt fragment …
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