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 23 for “"Huntington disease"”.
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Genetic and anthropometric studies of aging in Huntington 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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Silencing mutant Huntingtin by RNA interference for the treatment of Huntington Disease
Huntington Disease (HD) is a dominantly inherited neurological disease attributed to a CAG expansion within the HD gene. The HD mutation gives rise to a polyglutamine expansion in exon 1 of the protein huntingtin (Htt). Since the discovery of the HD mutation in 1993, various HD gene mouse models …
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Analysis of Huntington Disease Caregiver Quality of Life Using The Enroll-Hd Population
<p>Huntington disease (HD) is a neurodegenerative condition inherited in an autosomal dominant manner caused by a CAG triplet repeat expansion within the <em>HTT</em> gene. Thus, HD is unique among neurodegenerative disorders with a caregiver population often burdened by both the caregiver role and …
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The role of a genetic counsellor in a support group for Huntington disease
… of a genetic counsellor in a support group for Huntington disease. This study examines the role of a genetic counsellor in a Huntington Disease support group, specifically the Huntington’s Association of South Africa (HASA). A qualitative research approach was used to interview 17 people who …
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Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa
Huntington disease (HD) is an autosom 1 dominant, progressive neurodegenerative condition, which usually presents in mid-life. The disease-causing mutation was identified in 1993 and entails the expansion of an unstable repeat (CAG)n within exon 1 of the, HD gene (IT-15). A polymorphic (CCG)n …
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A molecular investigation of Huntington disease; origins of the mutation and current prevalence in South Africa
Huntington disease (HD) is a devastating neurodegenerative condition characterised by a triad of symptoms: behavioural/psychiatric changes, cognitive decline and movement disorder. The dominantly inherited disease-causing mutation is an expanded trinucleotide (CAG) repeat in the Huntingtin(HTT) …
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Identification of novel palmitoyl acyl transferases and characterization of the role of Huntingtin palmitoylation in Huntington Disease
… the polyglutamine tract in huntingtin as seen in Huntington Disease (HD) results in reduced association with HIP14 and decreased palmitoylation of huntingtin, which contributes to the formation of inclusion bodies and enhanced neuronal toxicity. By manipulating HIP14 levels through expression or …
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Pheno-Ratting: towards the characterization of motor and psychiatric phenotypes in the BACHD rat model of Huntington Disease
Contains fulltext : 191604.pdf (Publisher’s version ) (Open Access)
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Predictive testing and clinical genetic counselling services for Huntington disease in the Western Cape : an evaluation over eleven years
Includes bibliographical references (leaves 273-325).
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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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Aging Lowers Pex5 Levels In Cortical Neurons In Male and Female Mouse Brains
… peroxisomes are affected in neurodegenerative diseases and in normal brain aging. This work examines peroxisomal markers in three settings: 1) in a neuronal and 2) animal model of Huntington disease (HD), where mutant huntingtin (mHtt), the causative protein in Huntington disease pathogenesis …
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Analysis of matrix and striosomal cell activity to explore and predict mouse behavior in 'T' maze
… of striosome and matrix cells in wild type and Huntington disease modeling mice and how they are linked to cost-benefit decision-making. This paper will analyze and model the neural data and train a classifier that can predict the mouse's behavior as it runs a T-maze. The paper finds some …
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Study of proteins after recovery from bacterial infection
… and microglia activation with Huntington disease (P00029) and Glycolysis (P00024).
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Role of Tyrosine Receptor Kinase B in the Development and Function of the Central Nervous System
… in the progression and amelioration of CNS diseases. Though the nature of the diseases diverges, they share a common molecular regulatory mechanism. First we report that TrkB is required cell-autonomously to regulate the generation of new neurons. Mice lacking TrkB in hippocampal neural …
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Psychiatric Genetics: Confidence Levels and Practice Patterns of Mental Health Professionals
… significantly more confident when asked about Huntington disease than were psychologists. Among eight other mental health conditions, both groups were most confident when asked about schizophrenia, bipolar disorder, and major depression. Respondents were slightly less confident when asked about …
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Novel Microsatellite Detection, Microsatellite Based Biomarker Discovery In Lung Cancer And The Exome-Wide Effects Of A Dysfunctional DNA Repair Mechanism
… be mutational hotspots and have been linked to diseases, such as Huntington disease and Fragile X syndrome. This work represents a significant effort towards closing this knowledge gap. Specifically, we developed a next generation sequencing based enrichment method along with the supporting …
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CAG repeat expansions induce cytoplasmic RNA aggregation
… 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 result in disease. Mutant RNA …
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Identification of cellular signaling events dysregulated in Huntington’s disease.
Huntington’s disease (HD) is a fatal neurodegenerative disorder resulting from a CAG repeat expansion in the first exon of the gene encoding the Huntingtin protein (Htt) with physical, emotional, and cognitive symptoms. Current standard-of-care regimens for HD are limited to symptom-mitigating …
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