Literatura académica sobre el tema "Chorée de Huntington – Génétique"
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Artículos de revistas sobre el tema "Chorée de Huntington – Génétique"
Labrune, P. "Diagnostic génétique pré-implantatoire de la chorée de Huntington sans savoir si le parent « à risque » est atteint". Archives de Pédiatrie 10, n.º 2 (febrero de 2003): 170. http://dx.doi.org/10.1016/s0929-693x(03)00319-1.
Texto completoChesselet, MF. "La chorée de Huntington". médecine/sciences 4, n.º 8 (1988): 492. http://dx.doi.org/10.4267/10608/3868.
Texto completoPeschanski, M. "Du nouveau sur la chorée de Huntington". médecine/sciences 12, n.º 4 (1996): 535. http://dx.doi.org/10.4267/10608/778.
Texto completoLucotte, G. "Diagnostic prénatal de la chorée de Huntington". Journal de Pédiatrie et de Puériculture 5, n.º 3 (abril de 1992): 150–52. http://dx.doi.org/10.1016/s0987-7983(05)80302-0.
Texto completoLiévens, Jean-Charles y Serge Birman. "Les astrocytes dans la chorée de Huntington". médecine/sciences 23, n.º 10 (octubre de 2007): 845–49. http://dx.doi.org/10.1051/medsci/20072310845.
Texto completoLucotte, G. "Mais où est donc passé le gène de la chorée de Huntington ?" médecine/sciences 7, n.º 10 (1991): 1071. http://dx.doi.org/10.4267/10608/4508.
Texto completoAlex Parker, J., Margarita Arango, Salima Abderrahmane, Emmanuel Lambert, Cendrine Tourette, Hélène Catoire y Christian Néri. "Neuroprotection par l’activation des sirtuines dans des modèles simplifiés de chorée de Huntington". médecine/sciences 21, n.º 5 (mayo de 2005): 556–57. http://dx.doi.org/10.1051/medsci/2005215556.
Texto completoLucotte, G. "Répétitions trinucléotidiques CAG dans les cas de chorée de Huntington : une vaste enquête mondiale". médecine/sciences 10, n.º 11 (1994): 1168. http://dx.doi.org/10.4267/10608/2548.
Texto completoDodé, C. "Dernière heure : le gène de la chorée de Huntington, la fin d'une longue traque". médecine/sciences 9, n.º 4 (1993): 488. http://dx.doi.org/10.4267/10608/2951.
Texto completoCoarelli, G. y A. Durr. "Facteur génétique et variabilité clinique dans la maladie de Huntington". Pratique Neurologique - FMC 8, n.º 2 (marzo de 2017): 91–95. http://dx.doi.org/10.1016/j.praneu.2017.01.023.
Texto completoTesis sobre el tema "Chorée de Huntington – Génétique"
Bourset, Jacques. "La chorée de Huntington : aspects génétiques actuels". Montpellier 1, 1990. http://www.theses.fr/1990MON11243.
Texto completoMasnata, Maria. "The prion-like properties of the mutant huntingtin protein : demonstration in in vitro and in vivo systems". Doctoral thesis, Université Laval, 2021. http://hdl.handle.net/20.500.11794/67993.
Texto completoHuntington’s disease (HD) is an autosomal dominant neurodegenerative disease that affects approximately 3 - 8 people in 100,000 individuals worldwide. HD is caused by a mutation in the HTT gene, which codes for the protein huntingtin (HTT), consisting of an expansion of 35 CAG repeats in the exon 1 of the gene and resulting in the elongated polyglutamine (polyQ) stretch at the N-terminal fragment of the protein HTT. Individuals who suffer from HD develop severe motor, cognitive and psychiatric impairments, which primarily manifest in adulthood. The onset of the disease is usually inversely proportional to the CAG repeat expansion, however, HD comes with a high variability of symptoms. HD is also associated with the expression of the mutated HTT (mHTT) protein. The mHTT protein adopts a pathogenic conformation, which accumulates in small and/or large cytotoxic aggregates. Although these events are suspected to contribute to neurodegeneration, the exact mechanisms underlying the pathophysiological pathways leading to disease onset and neuronal death are still under investigation. A growing body of evidence suggests that mHTT possesses prion-like capacities – the capacity to spread between cells and seed disease – a phenomenon associated with other proteins such as amyloid, tau and a-synuclein, all involved in various neurodegenerative diseases. We hypothesized that mHTT propagates in a non-autonomous manner and behaves in a prion-like fashion to influence the onset and severity of HD. To address this, exogenous synthetic mHTT fibrils were administered to several cell lines and to mice of different genetic backgrounds. Following an incubation period, the effects of mHTT fibrils on cellular viability, animal behavior and neuropathological features were examined. We observed that mHTT fibrils provoked cell death and morphological changes in cultured cells, induced transient HD-related behavioral phenotypes in healthy mice and exacerbated motor, anxiety-like and cognitive deficits in an HD mouse model. Our study suggests that extracellular mHTT can propagate between cellular elements and once uptaken, trigger pathological changes. In light of these observations, we believe that extracellular mHTT could represent an appealing target for future therapeutic strategies. Current disease-modifying treatments tested in the clinic are designed to target the HTT gene to decrease the expression of the protein, overlooking the mHTT load outside of the cell boundaries and/or which has accumulated in the system prior to the application of gene silencing/editing. Hence, a combinational therapy addressing both the intracellular and extracellular expression of mHTT could serve as a more global treatment of HD.
Ravache, Myriam. "Activation transcriptionnelle d'un répresseur de gènes neuronaux, NRSF, dans la maladie de Huntington : Identification des facteurs impliqués". Université Louis Pasteur (Strasbourg) (1971-2008), 2008. http://www.theses.fr/2008STR13167.
Texto completoHuntington’s disease (HD) is a neurodegenerative disorder caused by an abnormal expansion of CAG trinucleotides, which code for polyglutamine expansions in the huntingtin (htt). Several physiopathological mechanisms have been proposed, including deregulated gene expression and can lead to the down-regulation of genes which are essential for neuronal morphology and function. NRSF, a transcription factor that plays a crucial role in controlling neuronal cell fate, by specifically inhibiting the expression of many neuronal genes, displays increased activity in HD which could explain the selective repression of neuronal genes. The goal of this work was to characterize the molecular mechanisms leading to NRSF activation in HD. In a cellular model, we show that the expression of mutant htt leads to increased NRSF expression by activating transcription from the NRSF promoter. We show that this transcriptional up-regulation does not involve two transcription factors known to be activated in HD: AP-1 and NF-KappaB. Finally, we demonstrate that Nrsf gene promoter is differentially regulated by two other transcription factors belonging to Sp family: Sp1 and Sp3, which act as transcriptional activator and repressor of the Nrsf gene promoter, respectively. Thus, we provide the first evidence that Sp factors regulate the transcriptional activity of Nrsf gene promoter. Our findings do not only allow the exploration of new mechanisms by which mutant htt activates the promoter of Nrsf gene, but they also open up fundamental new perspectives to understand the regulation of this gene, which is important during neuronal differentiation, and is deregulated in other disorders such as cancer
Delzor, Aurélie. "Développement de vecteurs lentiviraux pour surexprimer ou éteindre un gène dans le système nerveux central, application à la maladie de Huntington". Paris 6, 2012. http://www.theses.fr/2012PA066326.
Texto completoAbou-Sleymane, Gretta. "Polygluatamine expansion diseases : Transcriptional deregulations, alteration of the neuronal differentiation program and degeneration". Strasbourg 1, 2006. http://www.theses.fr/2006STR13209.
Texto completoHelmlinger, Dominique. "Identification des mécanismes de la toxicité induite par les expansions polyglutamines dans la rétine et étude du rôle de l'ataxine-7 dans la transcription". Université Louis Pasteur (Strasbourg) (1971-2008), 2004. http://www.theses.fr/2004STR13201.
Texto completoBrule, Baptiste. "Caractérisation et modulation non pharmacologique des dérégulations épigénétiques associées à la maladie de Huntington : vers l’identification de nouvelles cibles thérapeutiques". Electronic Thesis or Diss., Strasbourg, 2024. http://www.theses.fr/2024STRAJ015.
Texto completoHuntington's disease (HD) is a neurodegenerative genetic disease characterized by motor, cognitive, and psychiatric disorders caused by primary damage to the striatum. The pathogenic mechanism is complex and involve epigenetic and transcriptional dysregulations leading to a loss of neuronal identity and cell function. This thesis aimed to characterize the striatal epigenetic signature in mouse models with a celltype-specific resolution at different stages of HD. We observed that striatal neurons expressing the HD mutation undergo epigenetic erosion, reflecting accelerated aging in HD, induced by alterations in polycomb complexes. As epigenetic regulations are sensitive to the environment, we characterized the behavioral phenotype and molecular alterations of HD mouse model after housing in an enriched environment (EE) to decipher the epigenetic and transcriptomic effects induced by EE. Our findings thus provide a better understanding of early pathogenic mechanisms in HD, opening new therapeutic perspectives
Francelle, Laetitia. "A Study of Striatal Markers as Disease Modifiers in Huntington's Disease". Thesis, Paris 11, 2014. http://www.theses.fr/2014PA11T070/document.
Texto completoHuntington’s disease (HD) is a neurodegenerative disorder caused by the mutation of huntingtin (Htt) gene, which leads to an abnormal polyglutamine expansion in the Htt protein.Whereas mutant Htt (mHtt) is ubiquitously expressed in the brain, it preferentially affects the striatum. Our hypothesis is that genes products selectively expressed in the striatum could be involved in the high vulnerability of the striatum. From this hypothesis, numerous teams studied “markers of the striatum”, that are genes product enriched in the striatum whose expression are up- or down-regulated in HD compared to healthy condition.During my thesis, I studied three of these striatal markers: the long intergenic non-coding RNA Abhd11os, and the two proteins µ-crystallin (CRYM) and doublecortin-like kinase 3 (DCLK3). A preliminary study from the laboratory has shown that these three markers have neuroprotective effects against a toxic fragment of mHtt in vivo. So, the aims of my thesis were to further characterize these three ill-defined disease modifiers and to better understand the putative molecular mechanisms underlying their neuroprotective effects against mHtt.I also conducted a translational study on DCLK3, whose results validate the high therapeutic potential of this protein.The elucidation of the mechanisms underlying the neuroprotective effects of these disease modifiers against mHtt toxicity will require further studies, but new trails can be envisioned, according to their characteristics. My study has enlightened new therapeutic targets and more globally gives an overview of molecular mechanisms to modulate to induce neuroprotective effects in this context, leading to new hypothesis explaining striatal vulnerability in HD
Lotz-Tavernier, Caroline. "Rôle des altérations transcriptionnelles et épigénétiques dans les déficits comportementaux de la maladie de Huntington". Thesis, Strasbourg, 2019. http://www.theses.fr/2019STRAJ099.
Texto completoHuntington's disease (HD) is a genetic neurodegenerative disease, characterized by motor, cognitive and psychiatric troubles, associated to transcriptional and epigenetic dysregulations, preferentially in the striatum. The causal relationship between these molecular dysfunctions and behavioral deficits is still poorly understood and its characterization is the objective of my thesis. We observed a progressive striatum-dependent procedural memory deficit in the R6/1 HD mouse, which is partially compensated by hippocampus-dependent spatial memory. Moreover, our transcriptomic data show that the cognitive deficit of R6/1 mice is correlated to altered striatal transcriptional regulations induced by procedural learning. Particularly, the expression of immediate early genes involved in neuronal plasticity is impaired. To improve these alterations, R6/1 mice were treated with a histone acetyltransferase activator. We observed a partial improvement of the procedural memory deficit of R6/1 mice. Surprisingly, this treatment induces transcriptomics and epigenetics changes, more particularly in the glial cells, and it improves cholesterol metabolism. Thus, our analyzes allows precisly, for the first time, to describe the relationship between the epigenetic, transcriptional and behavioral alterations in HD
Karam, Alice. "Retinal ciliopathies in Huntington's and SCA7 disorders". Thesis, Strasbourg, 2013. http://www.theses.fr/2013STRAJ069/document.
Texto completoPolyglutamine (polyQ) disorders are dominantly inherited neurodegenerative disorders caused by the expansion of CAG repeats translated into long polyQ tracts in the corresponding proteins. These diseases include Spinocerebellar ataxia 7(SCA7) and Huntington’s Disease (HD), caused by polyQ expansion ataxin-7 (ATXN7) and huntingtin (htt), respectively. SCA7 and HD mouse models develop similar retinopathies suggesting common pathomechanisms. In my thesis, I found that, in response to polyQ toxicity, SCA7 photoreceptors (PR) undergo several cell fates ranging from their deconstruction, to their migration and their death. Moreover, this cell death activates the proliferation of Müller glial cells and their differentiation into PR like cells. The pathomechanisms underlying HD and SCA7 are still unknown. Recently, I found that ATXN7 and htt are localized to the PR cilia and that the mutant proteins lead to a progressive loss of the wild-type proteins that correlates with defects in the PR cilia
Libros sobre el tema "Chorée de Huntington – Génétique"
S, Harper Peter y Perutz Max F, eds. Glutamine repeats and neurodegenerative diseases: Molecular aspects. Oxford: Oxford University Press, 2001.
Buscar texto completoR, McInnes Roderick, Willard Huntington F y Thompson Margaret W. 1920-, eds. Thompson & Thompson genetics in medicine: Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard ; with clinical case studies prepared by Cornelius F. Boerkoel, III. 6a ed. Philadelphia: Saunders, 2004.
Buscar texto completoSadleir, Michael. Fanny by Gaslight. Arrow (A Division of Random House Group), 1986.
Buscar texto completoRivières, Alice. Testing Knowledge: Toward an Ecology of Diagnosis, Preceded by the Dingdingdong Manifesto. Punctum Books, 2021.
Buscar texto completo(Editor), Peter S. Harper y Max Perutz (Editor), eds. Glutamine Repeats and Neurodegenerative Diseases: Molecular Aspects. Oxford University Press, USA, 2001.
Buscar texto completoCapítulos de libros sobre el tema "Chorée de Huntington – Génétique"
Hausser-Hauw, Chantal. "Chorée de Huntington". En Manuel d'EEG de l'adulte. Veille et sommeil, 165–66. Elsevier, 2007. http://dx.doi.org/10.1016/b978-2-294-07145-4.50033-7.
Texto completoBednarek, Sophie. "Pathologies du développement d’origine génétique : manifestations psychomotrices dans la maladie de Huntington". En Manuel d'enseignement de psychomotricité, 444–48. De Boeck Supérieur, 2018. http://dx.doi.org/10.3917/dbu.albar.2017.01.0444.
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