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 81 for “"Huntington's disease"”.
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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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Decision-making in Huntington's Disease
Huntington’s disease (HD) is a neurodegenerative disorder caused by an expansion mutation in the huntingtin gene. Gene carriers are currently diagnosed with manifest HD when a movement disorder becomes apparent although such problems are often preceded by cognitive and psychiatric features which …
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Excitotoxic mechanisms in Huntington's disease
Thesis (Ph. D.)--Massachusetts Institute of Technology, Whitaker College of Health Sciences and Technology, 1992.
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β-cell dysfunction in Huntington's disease
Huntington's disease (HD), a fatal neurodegenerative disorder, is associated with an increased risk of diabetes mellitus. The reason for this is unknown, but considering the functional similarities of neurons and the insulin secreting pancreatic β-cell, pathological mechanisms may be shared by both …
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Genetic linkage studies in Huntington's disease
This document only includes an excerpt of the corresponding thesis or dissertation. To request a digital scan of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).
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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 …
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Characterization of a Drosophila model of Huntington's disease
Huntington's disease (HD) is an autosomal 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, …
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Cortical thinning and neuropsychological changes in presymptomatic Huntington's Disease
… the neuropsychological symptoms experienced in Huntington‘s Disease (HD). Advances in cortical thickness mapping (an automated MRI method for precisely measuring the cortical thickness across the entire cortex) provide a new technique for examining changes in the brain in HD. Recent studies …
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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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CHROMATIN DISRUPTION IN HUNTINGTON'S DISEASE ALTERS DEVELOPMENT AND PRECEDES NEUROPATHOLOGY
La Corea di Huntington (MH) è una malattia neurodegenerativa causata da un’espansione del tratto CAG nel gene Huntingtina (HTT), che porta alla formazione di un tratto di glutammine eccessivamente lungo nell’HTT mutata (mHTT). Sebbene la manifestazione clinica si osservi generalmente in età …
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Cell-Type Specific Translational Profiling in Huntington's Disease Mouse Models
… among the most vulnerable cell populations in Huntington's Disease (HD). Within this population, striatopallidal MSNs are more vulnerable than striatonigral MSNs, which may explain the typical progression in HD of chorea to hypokinesis. The biological basis for this differential vulnerability …
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The Social Construction of Huntington's Disease Caregivers in Colombia, South America
… intensive, in-depth qualitative study of Huntington's disease (HD) caregivers (HDCs) in Colombia. I explored the Colombia HDCs' experience through the Hispanic culture of caring. I develop the theory of the subrogate agency based on 5 functional stages of HD from Shoulson and Fanh (1979). …
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Cognitive and synaptic dysfunction in a mouse model of Huntington's disease
Huntington’s disease (HD) is a neurodegenerative disorder characterised by an unstable polyglutamine repeat expansion within the Huntingtin gene. Although clinical diagnosis of HD relies on the manifestation of a motor phenotype, cognitive symptoms often appear prior to diagnosis. This study has …
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Studies of Huntington's disease associated motor domain phosphorylation of kinesin-1
… associated with a variety of neurodegenerative diseases. Recent studies implicate phosphorylation of serine 175, a conserved residue found in all three isoforms of kinesin-1 in impaired axonal transport associated with Huntington’s disease. Phosphorylation adds both negative charge and bulk to a …
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Stress-activated protein kinase 1 and fast axonal transport in Huntington's disease.
… protein kinase 1 and fast axonal transport in Huntington's disease.
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DNA Repair Deficiency in Huntington's Disease Fibroblasts and Induced Pluripotent Stem Cells
… protein responsible for cellular dysfunction in Huntington’s disease (HD) –is a product of an expanded trinucleotide repeat (TNR) cytosine-adenine-guanine (CAG) sequence in exon 1 of the <em>huntingtin</em> <em>(HTT)</em> gene. The pathology of HD has been extensively researched; however, the …
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Effects of Depression and Demographics On Word Generation In People With Huntington'S Disease
… subjects as well as people with a diagnosis of Huntington's disease (HD). Participants were administered a battery of tests including the word generation test (FAS), and the supermarket portion of the Dementia Rating Scale (DRS) which assesses category fluency. </p><p>Participant's scores were …
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Emotional processing and communication in people with Huntington's disease : a mixed methods inquiry
Huntington's disease (HD) is a progressive neurodegenerative disorder caused by the inheritance of the mutation of a protein called Huntingtin. Its typical symptoms include motor impairments, cognitive deterioration, and significant psychological difficulties. All these impairments can have a …
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Modulation of Huntington's disease-associated phenotypes by the striatal-enriched transcription factor Foxp2
Huntington's disease (HD), the most common inherited neurodegenerative disorder, is caused by mutations in the huntingtin (HTT) gene, which encodes a poly-glutamine (polyQ) repeat protein. Despite widespread expression of the HTT gene, HD presents with massive neuronal cell loss and transcriptional …
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The mGluR2/3 Agonist LY397268 Improves Morphometric and Behavioral Outcomes in R6/2 Huntington's Disease Mice
<p>A prominent theory for the pathology of Huntington's Disease (HD) is the excitotoxic injury to the striatum. Continual exposure of ionotropic NMDA receptors to glutamate from the cortex can be excitotoxic in HD and leave striatal neurons vulnerable to damage. Activation of presynaptic mGluR2/3 …
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