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.
Results
Showing 1 to 20 of 39 for “"Huntington’s disease (HD)"”.
-
Protein misfolding toxicity and inclusion formation in cellular models of neurodegeneration
… misfolding characterizes most neurodegenerative diseases. Protein misfolding is the conversion of specific proteins from their normal, often soluble, and native three-dimensional conformation into an aberrant, often insoluble, non-functional conformation. Protein inclusions and aggregates are …
-
Preclinical Evaluation of Matrix Metalloproteinase Inhibitors and Protein Kinase C Activators in Cell and Mouse Models of Huntington’s Disease
<p>Huntington’s disease (HD) is an incurable genetic neurological disorder that affects 1 in 10,000 people, with no treatment that can alter the course of the disease. Neural cell death in the striatum and the cortex results from the accumulation of toxic mutant huntingtin protein (mHTT) fragments. …
-
Investigating The Dysregulation And Therapeutic Potential Of Neuroprotective Stress Response Proteins In Huntington’s Disease
Huntington’s disease (HD) is a fatal, genetic neurodegenerative disease that shares many features with other common neurological disorders, including early synapse loss. In both human HD brain and murine models, apoptotic pathways are dysregulated and mammalian target of rapamycin complex 1 …
-
The views of adults with Huntington’s disease on assisted dying : a psychological exploration
Neurodegenerative diseases are not typically associated with a palliative care approach, despite poor quality of end-of-life care for people with these conditions. The first aim of this thesis was to understand the views of adults with neurodegenerative diseases on end-of-life care. Consequently, a …
-
Neural Stem Cells as a Model to Study Huntington’s Disease
<p>Huntington’s disease (HD) is a heritable neurodegenerative disorder that affects muscle coordination and diminishes cognitive abilities, by affecting the medium spiny neurons in the brain. In HD patients, neurons are damaged and destroyed because of the toxicity of the mutant Huntington protein …
-
Reconstructing Cross-Species Ancestral Adeno-Associated Viruses for Enhanced Gene Therapy Delivery
… as autism spectrum disorders (ASD), Parkinson’s disease (PD), Huntington’s disease (HD)—as well as other systemic conditions like cystic fibrosis (CF). To overcome these barriers, we developed a computational framework based on ancestral sequence reconstruction (ASR) to engineer synthetic …
-
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 …
-
Identification and evaluation of biomarkers for Huntington’s disease
Huntington’s disease (HD) is a devastating, incurable inherited neurodegenerative disorder that commonly affects adults in mid-life. Despite encouraging results from in vitro and animal trials, disease-modifying therapeutic trials in HD are limited by a lack of tools to track disease progression. …
-
Analysis of axonal transport and molecular chaperones during neurodegeneration in drosophila
… Animal models that express human disease genes and show neurodegenerative-like pathologies are widely used to study particular molecular systems in early neurodegenerative changes. Axonal transport (AT) is perturbed in several prevalent neurodegenerative diseases. The development …
-
Psychological distress in the context of Huntington's disease
… and psychological therapy in the context of Huntington’s disease (HD). The literature review is a scoping review of 29 papers looking at different aspects of irritability in the context of HD. The review examines the validity of irritability as a meaningful construct in HD. Clinical and …
-
Investigation of Huntingtin’s Role in DNA Repair and Transcription
Huntington’s disease (HD) is a devastating and fatal neurodegenerative disease, caused by the expansion of a CAG repeat tract in the mutant Huntingtin gene (mHTT). The mechanism of toxicity imparted by mHTT has yet to be fully elucidated, despite decades of research since its description. Research …
-
Structural Functional Investigation of HAP40
… Advisor: Sheng Zhang, Ph.D.</p> <p>Huntington’s disease (HD) is a devastating neurodegenerative disorder caused by an expanded CAG trinucleotide repeat in the Huntingtin (HTT) gene, resulting in a mutant huntingtin (mHTT) protein with an elongated polyglutamine tract. While the …
-
Pharmacological inhibition of CK2: the effect of an FDA designated orphan drug on pathology, neuroinflammation, and glial phenotypes in Huntington’s disease
Huntington’s disease (HD) is a devastating autosomal dominant neurodegenerative disease that manifests with progressive motor, cognitive, and psychological impairments. HD is caused by a polyQ (CAG) repeat expansion in the huntingtin (HTT) gene, leading to the misfolding and aggregation of mutant …
-
Neuroprotection from the huntingtin-repressed transcriptional coactivator PGC-1α
… is decreased in the striatum of patients with Huntington’s Disease (HD). HD is an autosomal dominant neurological disorder caused by a polyglutamine repeat in the huntingtin protein which leads to degeneration of striatal and cortical tissues. PGC-1α undergoes targeted downregulation by mutant …
-
Molecular Profiling and Mechanisms of Cerebrovascular Function in Health and Neurodegeneration
… are hallmarks that precede the onset of disease-specific phenotypes. Efforts to understand the basic biology of cells that comprise the cerebrovasculature as well as the changes that occur in disease have made significant progress with the advent of single-cell technologies. Here we …
-
Motivations and Attitudes for Pursuing Anonymous Genetic Testing for Huntington’s Disease
<p>Huntington’s disease (HD) is a progressive neurodegenerative disorder for which predictive and confirmatory testing is available. However, only a small portion of at-risk individuals complete predictive testing. Concerns of privacy and genetic discrimination have been cited as reasons testing is …
-
The relationship of microRNAs to clinical features of Huntington's and Parkinson's disease
… reported in neurodegenerative disorders, such as Huntington’s disease (HD) and Parkinson’s disease (PD), which may impact gene expression and modify disease progression and/or severity. To assess the relationship of miRNA levels to HD, small RNA sequence analysis was performed for 26 HD and 36 …
-
Modelling Huntington’s Disease Using Direct Cell Reprogramming
Huntington’s disease (HD) is a neurodegenerative disorder characterised by the progressive decline of motor, cognitive, and psychiatric functions. HD results from an autosomal dominant mutation that causes a trinucleotide CAG repeat expansion and the production of a mutant Huntingtin protein …
-
Epigenetic Changes in Alzheimer’s and Huntington’sS Disease : A semi-quantitative analysis of histone changes
… balance in the activity of histone deacetylases (HDAC) and acetyltransferases. Disruption in their activity can lead to malfunctioning cells, cell death and disease. There is increasing evidence suggesting that deregulation of histone acetylation and consequential effects leading to aberrant gene …
-
Characterising social cognition and its predictors in individuals with premanifest Huntington’s disease
Huntington’s disease (HD) is a rare neurodegenerative disease that is characterised by motor, cognitive, and neuropsychiatric disorders. This condition affects 5-8 per 100, 000 people, and the average life expectancy from onset is between 15 to 25 years. Huntington’s disease is caused by an …
Page 1 of 2