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Дисертації з теми "Huntingtin Gene"

Автор: Grafiati

Опубліковано: 3 червня 2025

Оновлено: 31 липня 2025

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1

Maire, Séverine. "Towards Trans-Splicing Gene Therapy for HD : Intronic Targets Identification in the Huntingtin Gene." Thesis, Université Paris-Saclay (ComUE), 2018. http://www.theses.fr/2018SACLS054.

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Анотація:

La maladie de Huntington (MH) est une maladie autosomale dominante causée par une expansion de la répétition CAG codant pour une expansion de la polyglutamine dans le premier exon du gène Huntingtine (HTT). Ce gène code pour une protéine ubiquitaire dont la mutation entraine de graves symptômes moteurs, psychiatriques et cognitifs, dus à la dégénérescence spécifique des neurones GABAergique épineux moyens du striatum. Nous proposons d'utiliser le trans-épissage pour développer un vecteur de thérapie génique qui réduira significativement voir éliminera l'expression de la protéine mutée tout en

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2

Håkansson, Mimmi. "Huntingtin gene profiling, towards allele-specific treatment." Thesis, KTH, Skolan för kemi, bioteknologi och hälsa (CBH), 2020. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-278591.

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Анотація:

Huntington diseases(HD) is a fatal autosomal neurodegenerative genetic disorder, caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) gene, resulting in a toxic gain-of-function in the mutant huntingtin protein(mHTT). To date, there is no approved treatment to either cure or halt the course of HD. It has been established that wild-type(wt) HTT protein is essential for development and has a critical role for maintaining neuronal health, thus, a preferable approach for treatment is an mHTT specific lowering maintaining the wild type HTT expression. The achievement of an allele

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3

De, Souza Rebecca Anne Grace. "Characterization of the Huntingtin gene promoter and Huntingtin transcriptional regulation." Thesis, University of British Columbia, 2015. http://hdl.handle.net/2429/52951.

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Анотація:

Huntington’s disease (HD) is a late onset, neurological, autosomal dominant genetic disorder. Despite being associated to a defined genetic mutation within the huntingtin gene (HTT), little is known about its transcriptional regulation. HTT is expressed, at varying levels, throughout the body. At the current time, the transcriptional regulation mechanisms controlling this differential expression pattern are unknown. Previous studies have focused on the genomic region directly preceding HTT’s transcriptional start site. The purpose of this thesis was to utilize the current understanding of mamm

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4

Wagner, Laura A. "Silencing mutant Huntingtin by RNA interference for the treatment of Huntington Disease." Thesis, University of British Columbia, 2008. http://hdl.handle.net/2429/937.

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Анотація:

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 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 therapeutic testing to develop potential treatments for HD. RNA interference (RNAi) therapy is a targeted gene silencing approach whereby synthetic RNA con

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5

Mohammed, Idris M. "Evolution, genetics and function of Huntingtin gene in Ciona intestinalis." Thesis, Open University, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.505445.

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Анотація:

Although mutations in the Huntingtin gene (HTT) due to polyQ expansion are known to cause neuropathology in humans (Huntington's disease, HD), the normal function(s) of the huntingtin gene and its product remains obscure. The principal aim of this thesis was to gain a better understanding of the evolution, function and genetics of the huntingtin gene using the invertebrate chordate Ciona intestinalis.

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6

Skogen, Michael John. "Reduction of huntingtin aggregation and transcript levels by utilization of guanine rich oligonucleotides." Access to citation, abstract and download form provided by ProQuest Information and Learning Company; downloadable PDF file, 118 p, 2007. http://proquest.umi.com/pqdweb?did=1397900461&sid=7&Fmt=2&clientId=8331&RQT=309&VName=PQD.

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7

Louçã, Mathilde. "Functional impacts of Huntingtin lowering on the synaptic maturation and activity of neuronal networks derived from human induced pluripotent stem cells." Electronic Thesis or Diss., université Paris-Saclay, 2024. http://www.theses.fr/2024UPASL054.

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Анотація:

La maladie de Huntington (MH) est une maladie neurodégénérative causée par la mutation de la Huntingtine (HTT). La réduction de l'expression de la HTT mutante est une piste thérapeutique évidente en cours d’exploration chez les patients. Le ciblage de la HTT mutante s’accompagne cependant le plus souvent d’une réduction concomitante de la HTT non mutée. Les conséquences de la perte de cette protéine sur la santé des neurones restent mal connues.Mon travail de thèse traite cette question en utilisant des modèles in vitro de réseaux neuronaux humains différenciés à partir de cellules souches ind

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8

FORMENTI, GIULIO PAOLO. "THIRD-GENERATION SEQUENCING AND ASSEMBLY OF THE BARN SWALLOW GENOME AND A STUDY ON THE EVOLUTION OF THE HUNTINGTIN GENE." Doctoral thesis, Università degli Studi di Milano, 2019. http://hdl.handle.net/2434/611650.

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Анотація:

The present thesis is divided in two sections. The first section outlines the scientific work that I have accomplished during the last year of my graduate studies. The goal was to generate a reference genome for the European barn swallow (Hirundo rustica rustica). The barn swallow (Hirundo rustica) is a migratory bird that has been the focus of a large number of ecological, behavioural and genetic studies. To facilitate further population genetics and genomic studies, I have generated a high-quality genome for the European subspecies (Hirundo rustica rustica) using third-generation Single Mole

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9

Romo, Lindsay S. "Alterations in mRNA 3′UTR Isoform Abundance Accompany Gene Expression Changes in Huntington's Disease." eScholarship@UMMS, 2017. http://escholarship.umassmed.edu/gsbs_diss/916.

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Анотація:

Huntington’s disease is a neurodegenerative disorder caused by expansion of the CAG repeat in huntingtin exon 1. Early studies demonstrated the huntingtin gene is transcribed into two 3′UTR isoforms in normal human tissue. Decades later, researchers identified a truncated huntingtin mRNA isoform in disease but not control human brain. We speculated the amount of huntingtin 3′UTR isoforms might also vary between control and Huntington’s disease brains. We provide evidence that the abundance of huntingtin 3′UTR isoforms, including a novel mid-3′UTR isoform, differs between patient and control ne

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10

洪宣, 朴., and Hongsun Park. "Analysis of non-coding RNA expression in medium spiny neurons of Huntington disease model mice." Thesis, https://doors.doshisha.ac.jp/opac/opac_link/bibid/BB13106336/?lang=0, 2019. https://doors.doshisha.ac.jp/opac/opac_link/bibid/BB13106336/?lang=0.

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Анотація:

Huntington Disease (HD) is a neurodegenerative disorder caused by expanded CAG repeats in the exon1 of huntingtin gene (HTT). The mutant HTT affects the transcriptional profile of neurons by disrupting the activities of transcriptional machinery and alters expression of many genes. In this study, we identified dysregulated non-coding RNAs (ncRNAs) in medium spiny neurons of 4-week-old HD model mouse. Also, we observed the intracellular localizations of Abhd11os and Neat1 ncRNAs by ViewRNA in situ hybridization, which could provide more precise detection, suggesting that it is a useful method t

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11

Choudhury, Sourav Roy. "Developing an Adeno-Associated Viral Vector (AAV) Toolbox for CNS Gene Therapy: A Dissertation." eScholarship@UMMS, 2016. https://escholarship.umassmed.edu/gsbs_diss/809.

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Анотація:

Neurological disorders – disorders of the brain, spine and associated nerves – are a leading contributor to global disease burden with a sizable economic cost. Adeno-associated viral (AAV) vectors have emerged as an effective platform for CNS gene therapy and have shown early promise in clinical trials. These trials involve direct infusion into brain parenchyma, an approach that may be suboptimal for treatment of neurodegenerative disorders, which often involve more than a single structure in the CNS. However, overall neuronal transduction efficiency of vectors derived from naturally occurring

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12

Choudhury, Sourav Roy. "Developing an Adeno-Associated Viral Vector (AAV) Toolbox for CNS Gene Therapy: A Dissertation." eScholarship@UMMS, 2001. http://escholarship.umassmed.edu/gsbs_diss/809.

Повний текст джерела

Анотація:

Neurological disorders – disorders of the brain, spine and associated nerves – are a leading contributor to global disease burden with a sizable economic cost. Adeno-associated viral (AAV) vectors have emerged as an effective platform for CNS gene therapy and have shown early promise in clinical trials. These trials involve direct infusion into brain parenchyma, an approach that may be suboptimal for treatment of neurodegenerative disorders, which often involve more than a single structure in the CNS. However, overall neuronal transduction efficiency of vectors derived from naturally occurring

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13

BEMELMANS, ALEXIS PIERRE. "Transfert de genes a potentiel therapeutique dans des modeles de la maladie de huntington developpes chez le rat." Paris 6, 1999. http://www.theses.fr/1999PA066048.

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Анотація:

La maladie de huntington est une affection hereditaire qui se caracterise par une degenerescence progressive des neurones gabaergiques du striatum. Cela entraine des troubles moteurs et cognitifs qui aboutissent a la mort apres une evolution d'une quinzaine d'annees. On ne connait aucun traitement susceptible d'arreter ou de ralentir le processus neurodegeneratif. Nous avons etudie des strategies de traitement par transfert de gene dans des modeles de la maladie de huntington developpes chez le rat. Nous nous sommes interesses a des strategies de type soit restauratrice, par transfert du gene

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14

Martín, Flores Núria. "Study of the mTOR pathway in neurodegenerative diseases: from synapses to genes." Doctoral thesis, Universitat de Barcelona, 2018. http://hdl.handle.net/10803/665330.

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Анотація:

Huntington's disease (HD) and Parkinson's disease (PD) are devastating neurodegenerative diseases that progress with the death of selective neuronal subpopulations. Neuronal dysfunction and death are consequence of multiple pathogenic processes which alter signalling cascades. The identification of such molecular pathways is crucial to understand the cellular processes that triggers the symptomatology of diseases. One of the common affected pathways in neurodegeneration is the mTOR pathway. It regulates multiple cellular processes to preserve cellular viability and function. Consequently, to m

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15

Damiano, Maria. "Rôle de la dysfonction mitochondriale dans deux maladies neurodégénératives, la Maladie de Huntington et la Maladie de Parkinson." Thesis, Paris 6, 2014. http://www.theses.fr/2014PA066584/document.

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Анотація:

Un dysfonctionnement mitochondrial est impliqué dans plusieurs maladies neurodégénératives, corrélé avec une augmentation des niveaux de stress oxydant. Les anomalies mitochondriales observées dans les tissus des patients, les modèles animaux et cellulaires des maladies de Huntington et de Parkinson, suggèrent l'implication de la mitochondrie dans leur pathogénie.Les deux projets discutés dans ce manuscrit se focalisent sur le rôle des aspects particuliers de la physiologie mitochondriale au cours des deux maladies<br>Mitochondrial dysfunction has been implicated in several neurodegenerative d

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16

Scholefield, Janine. "Detailed investigation of the unstable (CAG) repeat and the immediate surrounding region of the IT15 gene in some South African families with Huntington disease." Master's thesis, University of Cape Town, 2005. http://hdl.handle.net/11427/3460.

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Анотація:

Includes bibliographical references (leaves 113-124).<br>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 15 HD families. These families were comprised of seven Caucasian, 6 Mixed Ancestry and two Black African families.

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17

Gourfinkel-An, Isabelle. "Etude de l'expression du gene implique dans la maladie de huntington et des consequences de la maladie sur le fonctionnement des ganglions de la base." Paris 6, 2001. http://www.theses.fr/2001PA066111.

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Анотація:

Lorsque nous avons debute ce travail, le gene (it15) et la mutation impliques dans la maladie de huntington etaient identifies depuis peu. Notre premier objectif a ete d'etudier l'expression du gene it15 sur cerveau humain post-mortem dans les conditions normales et dans le maladie de huntington. L'utilisation d'anticorps specifiques nous a permis d'etudier separement a l'echelon cellulaire l'expression de la huntingtine normale et mutee et de mettre en evidence dans le cerveau des patients atteints par la maladie, des processus complexes de delocalisation, d'agregation et de degradation de la

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18

Parmentier, Frédéric. "Modélisation et prédiction de la dynamique moléculaire de la maladie de Huntington par la théorie des graphes au travers des modèles et des espèces, et priorisation de cibles thérapeutiques." Thesis, Sorbonne Paris Cité, 2015. http://www.theses.fr/2015PA05T030.

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Анотація:

La maladie de Huntington est une maladie neurodégénérative héréditaire qui est devenue un modèle d'étude pour comprendre la physiopathologie des maladies du cerveau associées à la production de protéines mal conformées et à la neurodégénérescence. Bien que plusieurs mécanismes aient été mis en avant pour cette maladie, dont plusieurs seraient aussi impliqués dans des pathologies plus fréquentes comme la maladie d’Alzheimer ou la maladie de Parkinson, nous ne savons toujours pas quels sont les mécanismes ou les profils moléculaires qui déterminent fondamentalement la dynamique des processus de

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19

Chang, Hao-Hung, and 張皓閎. "A novel gene BC1 on huntingtin induced aggregation and cell toxicity." Thesis, 2003. http://ndltd.ncl.edu.tw/handle/82861706743244889772.

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Анотація:

碩士<br>國立臺灣大學<br>生化科學研究所<br>91<br>A novel gene, BC1, was isolated from the GCH (GTP cyclohydrogenase I) Dominant negative cell models. BC1 expressed mainly in the non-DN cells, and had effect on stabilizing polymeric GCH proteins. It seems that BC1 may be involved in folding and degradation pathway. There are many neurodegenerative diseases involved aggregation and deposition of misfolded proteins such as amyloid , tau, -synuclein and polyglutamine containing proteins been reported. We investigate that if BC1 may have effect on misfolded protein induced neurodegenerative disease. N

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20

Růna, Vochozková Petra. "Prasečí modely pro Huntingtonovu chorobu." Doctoral thesis, 2019. http://www.nusl.cz/ntk/nusl-451136.

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Анотація:

The causative role of the huntingtin (HTT) gene in Huntington's disease (HD) has been identified more than 25 years ago. The extension of CAG repeat stretch over 39 repeats in exon 1 of one HTT allele results in full penetrance of this neurodegenerative disorder. While the identification of the causative mutation raised hopes that development of the therapeutic compound will be easily achievable, the patients and their families are still waiting for treatment until now. The main reason for that might be the complex cellular function HTT that makes the determination of the pathologic mechanism

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21

Etchegary, Holly. ""I have the gene, but I don't have Huntington disease" : negotiating genetic risk /." 2005.

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