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 66 for “"Huntingtin"”.
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Deciphering The Role of Huntingtin In Endosomal Functions
… (polyQ) tract in the coding region of Huntingtin (HTT) gene. While antisense oligonucleotide (ASO) strategies aimed at lowering mutant HTT levels seemed promising, recent clinical trials were unsuccessful due to worsening patient outcomes in the ASO treatment group compared to the …
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The role of Huntingtin in fast axonal transport
… when an expansion of the polyQ tract of the huntingtin gene expands to greater than ~35 residues. This mutation leads to aggregation of the Huntingtin protein (Htt) and degeneration of striatal and cortex neurons, ultimately causing motor impairment and personality changes. Neither the …
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Localization and function of the Drosophila huntingtin protein
… by an expansion of a polyglutamine tract in the huntingtin protein. This mutation leads to conformational instability, resulting in huntingtin aggregation and degeneration of neurons in the striatum and cortex. HD is characterized by motor dysfunction, personality changes, dementia, and early …
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Neuroprotection from the huntingtin-repressed transcriptional coactivator PGC-1α
… 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 huntingtin protein (mtHtt) and PGC-1α knockout mice have striatal lesions similar to HD transgenic mice. Exogenous …
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Silencing mutant Huntingtin by RNA interference for the treatment of Huntington Disease
… polyglutamine expansion in exon 1 of the protein huntingtin (Htt). Since the discovery of the HD mutation in 1993, various HD gene mouse models have been developed to contain either fragments or full-length copies of the mutant HD gene. The existence of these HD mouse models enables focused …
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Isolation, engineering, and characterization of intracellular antibodies specific for the huntingtin protein
… 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 containing the glutamine-expanded region to misfold and adopt a …
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Identification of novel palmitoyl acyl transferases and characterization of the role of Huntingtin palmitoylation in Huntington Disease
… associated synaptic scaffolding proteins. HIP14 (huntingtin interacting protein 14) is the first identified and characterized mammalian palmitoyl transferase that regulates this process. I have shown that HIP14 has striking effects on modulating trafficking and function of many proteins important …
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Identification of a Role for Huntingtin in the Control of Synaptic Connectivity in Circuits Disrupted by Huntington’s Disease
… caused by an autosomal dominant mutation in the huntingtin (HTT) gene. HD patients suffer from motor, cognitive, and psychiatric symptoms. The pathogenic mutation of HD is expansion of a CAG repeat in the first exon of the HTT that encodes for a polyglutamine (poly-Q) repeat in the huntingtin …
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Υπολογιστική ανίχνευση αναστολέων της προβληματικής αναδίπλωσης και συσσωμάτωσης των πρωτεϊνών Tau και Huntingtin που εμπλέκονται στις νευροεκφυλιστικές νόσους Alzheimer και Huntington.
… ασθενειών διαδραματίζουν οι πρωτεΐνες Tau και Huntingtin, οι οποίες ανήκουν στην κατηγορία των εγγενώς μη διατεταγμένων πρωτεϊνών (Intrinsically Disordered Proteins- IDPs). Η δομική τους ετερογένεια καθιστά εξαιρετικά δύσκολη τη φαρμακευτική τους στόχευση. Με τη γήρανση, οι πρωτεΐνες αυτές …
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Beyond the basal ganglia
… by a mutation in the gene encoding the protein huntingtin. Although mutant huntingtin is ubiquitously expressed throughout the body, HD research has mainly focused on the role of the basal ganglia. Dysfunction of these brain nuclei likely underlies motor disturbances in HD, including the …
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β-cell dysfunction in Huntington's disease
… of the R6/2 mouse model we found that mutant huntingtin renders β-cells replication-deficient. This results in a reduced β-cell mass in R6/2 compared to WT mice. In addition, islet insulin content is reduced and a dramatic degranulation of β-cells is evident. As a consequence, insulin …
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Preclinical Evaluation of Matrix Metalloproteinase Inhibitors and Protein Kinase C Activators in Cell and Mouse Models of Huntington’s Disease
… results from the accumulation of toxic mutant huntingtin protein (mHTT) fragments. Full length HTT is cleaved by proteases, including caspases, calpains and matrix metalloproteinases (MMPs). Previous research has also shown altered kinase signaling pathways in HD contribute to the localization …
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Exploring central and enteric nervous system vulnerability in Huntington’s Disease: hints from a knock-in animal model
… no cure. The disease is driven by the mutant huntingtin protein, which predominantly leads to the degeneration of the striatum within the brain. Medium-sized spiny neurons (MSNs), the main neuronal components of the striatum, are selectively affected by HD, and they can be further categorized …
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Structural Functional Investigation of HAP40
… 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 genetic basis of HD is well established, the mechanisms underlying mHTT toxicity and its impact on cellular function remain …
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The Role of Trophic Factors and Other Drugs in the Treatment of Huntington's Disease in R6/2 Mouse Model
… expansion at the N-terminus within exon 1 of the huntingtin gene. The huntingtin protein is considered to play a role in the cell survival and apoptosis pathways of neurons, including Akt kinase and JNK. We hypothesized that the treatment of the R6/2 transgenic mouse model with neurotrophic …
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DNA Repair Deficiency in Huntington's Disease Fibroblasts and Induced Pluripotent Stem Cells
<p>Mutant huntingtin protein (mhtt)– the 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 …
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Protein misfolding toxicity and inclusion formation in cellular models of neurodegeneration
… (ALS) and polyglutamine (polyQ) expanded huntingtin, which causes Huntington’s disease (HD). Genetic, biochemical, and pathological findings implicate RGNEF and Matrin3 in Amyotrophic Lateral Sclerosis (ALS). In this thesis we establish two novel humanized yeast models to study RGNEF and …
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Functional and Pathophysiological-morphological Correlates of Neurodegenerative Diseases
… color discrimination; contrast sensitivity; huntingtin; Huntington's disease; iron accumulation; mitochondrial membrane-protein associated neurodegeneration; multilevel process; neurodegeneration; optical coherence tomogra- phy; parkinsonism; respiratory chain complex; retinal nerve fiber …
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