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 57 for “"HTT"”.
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Implicación del polimorfismo genético del transportador de serotonina (5-htt) en la susceptibilidad a la depresión mayor
… codifica para el transportador de serotonina (5-HTT) está asociado con el desarrollo de la enfermedad. Se realizó un estudio para evaluar la asociación entre polimorfismos del gen 5-HTT y trastorno depresivo mayor. Métodos. Estudio de casos y controles pareados 1:1. Los participantes se …
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INVESTIGATING THE IMMEDIATE CONSEQUENCES OF NORMAL AND MUTANT HTT LOSS IN HD-HESC THROUGH THE DTAG SYSTEM.
… in the first exon of the Huntingtin gene (HTT). In the healthy population, the number of CAG repeats range between 9 and 35, while an expansion above 36 CAG repeats causes the manifestation of the pathology later in life. Numerous studies indicate that the pathological CAG length causes the …
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Identification of a Role for Huntingtin in the Control of Synaptic Connectivity in Circuits Disrupted by Huntington’s Disease
… 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 protein (Htt). …
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Deciphering The Role of Huntingtin In Endosomal Functions
… 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 placebo. This may …
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Isolation, engineering, and characterization of intracellular antibodies specific for the huntingtin protein
… 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 conformation …
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Structural Functional Investigation of HAP40
… 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 incompletely …
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The role of Huntingtin in fast axonal transport
… leads to aggregation of the Huntingtin protein (Htt) and degeneration of striatal and cortex neurons, ultimately causing motor impairment and personality changes. Neither the mechanism by which mutant Htt causes toxicity, nor the endogenous function of wild-type Htt, are well understood. To …
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Presynaptic signalling in Huntington’s disease
… of the CAG codon in exon1 of the huntingtin (Htt) gene. This monogenic mutation results in the expression of mutant (m)Htt protein and causes neurodegeneration, principally in the medium spiny neurons of the striatum. The symptoms of HD include loss of motor coordination (chorea) and cognitive …
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Characterization of a Drosophila model of Huntington's disease
… (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 impairment, and dementia. To date, the molecular …
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Regulation of Transglutaminase by 5-HT2A Receptor Signaling and Calmodulin
… supranuclear palsy. Mutant huntingtin (htt) and small G proteins (e.g. Rac 1) are potential substrates of TGases. The purpose of this dissertation was to characterize the mechanisms by which 5-HT2A receptor signaling and calmodulin (CaM) regulate TGase-catalyzed transamidation of Rac1 …
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Using Chemically Modified Oligonucleotides to Modulate Gene Expression, Treat Genetic Diseases, and Probe Novel Mechanisms of RNA Interference
… trinucleotide expansion in the gene HUNTINGTIN (HTT) and production of toxic glutamine-expanded protein. Targeting HTT with siRNAs could be a powerful approach, but allele-selectivity is a major challenge: nearly all HD patients are heterozygous at the HTT locus, and expression of wild-type HTT …
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Impacto de los alelos intermedios en el gen de la huntingtina en pacientes con enfermedad de Alzheimer de origen esporádico
… estudiar el mecanismo por el que la presencia de HTT IAs en pacientes LOAD pueden actuar como factor de riesgo genético, para el desarrollo o agravamiento fisiopatológico de la misma. Para ello el objetivo general fue definir mediante diferentes aproximaciones el papel patogénico que pueden tener …
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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
… 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 for Htt protein levels. I …
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Impact of genetic variability in the serotonin transporter, Tryptophan Hydroxylase-2, and Serotonin 2A Receptors on MDMA Use and Impulsivity
… hydroxylase-2 (TPH-2), 5-HT transporter (5-HTT), and 5-HT2A receptor (5-HT2AR) in the effects of MDMA is incompletely understood. Our initial study compared the prevalence of polymorphisms leading to reduced gene expression in those genes among MDMA users versus controls, and assessed the …
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Neurochemische und autoradiographische Untersuchungen von Serotonin-Transporter-Knockout-Mäusen
… der allelischen Expressionsvariabilität des 5-HTT auf das Gehirn zu untersuchen, wurde eine transgene 5-HTT-Knockout-Maus entwickelt, die als Grundlage der Untersuchungen der vorliegenden Arbeit diente. Vor allem aufgrund der Assoziation des kurzen Allels des 5-HTT-Promotorpolymorphismus mit M. …
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Understanding Huntington's Disease pathogenesis using next generation sequencing analyses
… 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. These symptoms progress for approximately 15 years at which time they become fatal. The clinical …
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Investigation of Huntingtin’s Role in DNA Repair and Transcription
… 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 into the normal cellular function of wild type HTT has also been hindered due to its size, complexity, and …
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The Social Environment, Genetics, and Obesity: Evaluation of Diathesis-Stress and Differential Susceptibility Frameworks
… the current study explores how the MAOA and 5-HTTLPR gene alleles interact with known predictors of obesity to compare and contrast the different frameworks. Results reveal that MAOA and 5-HTT do not have the same effect on obesity, especially when socioeconomic status and gender are …
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Zusammenhang zwischen Fehlermonitoring, Persönlichkeitsmerkmalen und Serotonintransporterpolymorphismus
… sowie die Genpolymorphismen des 5-HTTs (5-Hydroxythryptophantransporter), des D4(Dopamin)-Rezeptors und der MAO A (Monoaminooxidase A) bestimmt und nach möglichen Zusammenhängen zwischen diesen Faktoren gesucht. Es ergab sich ein signifikanter Unterschied (Z = - 2,00, p < 0,05) für …
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