Relevant bibliographies by topics / Huntingtin Gene

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Huntingtin Gene'

Author: Grafiati
Published: 3 June 2025
Last updated: 31 July 2025

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Journal articles on the topic "Huntingtin Gene"

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Rollnik, Jens D. "Hoffnung für Huntington-Patienten – erste klinische Gene-Silencing-Studie." Fortschritte der Neurologie · Psychiatrie 85, no. 08 (2017): 463–66. http://dx.doi.org/10.1055/s-0043-108061.

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ZusammenfassungBei der Huntington-Erkrankung handelt es sich um eine bisher nicht kausal behandelbare neurodegenerative Erkrankung, die mit motorischen, psychiatrischen und kognitiven Symptomen einhergehen kann.Die Ursache der in Deutschland mit einer Häufigkeit von etwa 1:10 000 auftretenden, autosomal-dominant vererbten Erkrankung, ist eine Mutation im Huntingtin-Gen (CAG-Expansion). Diese führt zu einer Polyglutamin-Expansion im Huntingtin-Protein (HTT). Das so veränderte HTT (mHTT) hat eine zytotoxische Wirkung, ist schlecht löslich, neigt zur Aggregation in der Zelle und löst eine komplex
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Saba, Roberta Arb, James H. Yared, Thomas M. Doring, Med Phys, Vanderci Borges, and Henrique Ballalai Ferraz. "Diffusion tensor imaging of brain white matter in Huntington gene mutation individuals." Arquivos de Neuro-Psiquiatria 75, no. 8 (2017): 503–8. http://dx.doi.org/10.1590/0004-282x20170085.

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ABSTRACT Objective To evaluate the role of the involvement of white matter tracts in huntingtin gene mutation patients as a potential biomarker of the progression of the disease. Methods We evaluated 34 participants (11 symptomatic huntingtin gene mutation, 12 presymptomatic huntingtin gene mutation, and 11 controls). We performed brain magnetic resonance imaging to assess white matter integrity using diffusion tensor imaging, with measurement of fractional anisotropy. Results We observed a significant decrease of fractional anisotropy in the cortical spinal tracts, corona radiate, corpus call
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Md., Nasrullah. "HUNTINGTON'S DISEASE: UNDERSTANDING THE PATHOPHYSIOLOGY THROUGH THE HUNTINGTIN GENE." INDO AMERICAN JOURNAL OF PHARMACEUTICAL SCIENCES 05, no. 01 (2018): 534–41. https://doi.org/10.5281/zenodo.1162268.

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Huntington's Disease (HD) is a progressive neurodegenerative disorder. It is an autosomal dominant disorder that is categorized by motor dysfunctions, behavioral and cognitive deficits. Reason for this disease is expansion of the polyglutamine (due to the more CAG repeat) in the amino-terminal region of the exon 1 of the Huntingtin gene (HTT). Furthermore, the mutant HTT gene is occupied in the HD associated changes of neurotransmission for enabling the neurodegeneration. Even though the the important pathophysiology of the HD happens in the caudate and putamen, rest regions of the brain a
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Fan, Junyi. "Approaches and Frontiers of CRISPR-Cas9 in the treatment of Huntingtons Disease." Theoretical and Natural Science 93, no. 1 (2025): 1–8. https://doi.org/10.54254/2753-8818/2025.21023.

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Huntingtons disease is genetic neurodegenerative disorder that usually appears in individuals between the ages of 30 and 50, causing profound impairments in motor function, cognition, and emotional regulation. The underlying etiology of this condition is linked to mutations in the DNA that lead to the abnormal aggregation of the huntingtin protein, ultimately causing neuronal cell death. In the absence of effective treatment options, pertinent research continues to investigate gene editing technology as a potential therapeutic approach. This paper focuses on the application of CRISPR-Cas9 tech
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Truant, Ray, Randy Atwal, and Anjee Burtnik. "Hypothesis: huntingtin may function in membrane association and vesicular traffickingThis paper is one of a selection of papers published in this Special Issue, entitled CSBMCB — Membrane Proteins in Health and Disease." Biochemistry and Cell Biology 84, no. 6 (2006): 912–17. http://dx.doi.org/10.1139/o06-181.

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Huntington’s disease is a progressive neurodegenerative genetic disorder that is caused by a CAG triplet-repeat expansion in the first exon of the IT15 gene. This CAG expansion results in polyglutamine expansion in the 350 kDa huntingtin protein. The exact function of huntingtin is unknown. Understanding the pathological triggers of mutant huntingtin, and distinguishing the cause of disease from downstream effects, is critical to designing therapeutic strategies and defining long- and short-term goals of therapy. Many studies that have sought to determine the functions of huntingtin by determi
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Schultz, Jordan L., Carsten Saft, and Peggy C. Nopoulos. "Association of CAG Repeat Length in the Huntington Gene With Cognitive Performance in Young Adults." Neurology 96, no. 19 (2021): e2407-e2413. http://dx.doi.org/10.1212/wnl.0000000000011823.

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ObjectiveTo investigate the relationships between CAG repeat length in the huntingtin gene and cognitive performance in participants above and below the disease threshold for Huntington disease (HD), we performed a cross-sectional analysis of the Enroll-HD database.MethodsWe analyzed data from young, developing adults (≤30 years of age) without a history of depression, apathy, or cognitive deficits. We included participants with and without the gene expansion (CAG ≥36) for HD. All participants had to have a Total Functional Capacity Score of 13, a diagnostic confidence level of zero, and a tot
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Jurcau, Anamaria. "Molecular Pathophysiological Mechanisms in Huntington’s Disease." Biomedicines 10, no. 6 (2022): 1432. http://dx.doi.org/10.3390/biomedicines10061432.

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Huntington’s disease is an inherited neurodegenerative disease described 150 years ago by George Huntington. The genetic defect was identified in 1993 to be an expanded CAG repeat on exon 1 of the huntingtin gene located on chromosome 4. In the following almost 30 years, a considerable amount of research, using mainly animal models or in vitro experiments, has tried to unravel the complex molecular cascades through which the transcription of the mutant protein leads to neuronal loss, especially in the medium spiny neurons of the striatum, and identified excitotoxicity, transcriptional dysregul
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Jiang, Andrew, Renee R. Handley, Klaus Lehnert, and Russell G. Snell. "From Pathogenesis to Therapeutics: A Review of 150 Years of Huntington’s Disease Research." International Journal of Molecular Sciences 24, no. 16 (2023): 13021. http://dx.doi.org/10.3390/ijms241613021.

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Huntington’s disease (HD) is a debilitating neurodegenerative genetic disorder caused by an expanded polyglutamine-coding (CAG) trinucleotide repeat in the huntingtin (HTT) gene. HD behaves as a highly penetrant dominant disorder likely acting through a toxic gain of function by the mutant huntingtin protein. Widespread cellular degeneration of the medium spiny neurons of the caudate nucleus and putamen are responsible for the onset of symptomology that encompasses motor, cognitive, and behavioural abnormalities. Over the past 150 years of HD research since George Huntington published his desc
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Kolobkova, Yu A., V. A. Vigont, A. V. Shalygin, and E. V. Kaznacheyeva. "Huntington’s Disease: Calcium Dyshomeostasis and Pathology Models." Acta Naturae 9, no. 2 (2017): 34–46. http://dx.doi.org/10.32607/20758251-2017-9-2-34-46.

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Huntingtons disease (HD) is a severe inherited neurodegenerative disorder characterized by motor dysfunction, cognitive decline, and mental impairment. At the molecular level, HD is caused by a mutation in the first exon of the gene encoding the huntingtin protein. The mutation results in an expanded polyglutamine tract at the N-terminus of the huntingtin protein, causing the neurodegenerative pathology. Calcium dyshomeostasis is believed to be one of the main causes of the disease, which underlies the great interest in the problem among experts in molecular physiology. Recent studies have foc
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Hervás, Rubén, Alexey G. Murzin, and Kausik Si. "Implications of the Orb2 Amyloid Structure in Huntington’s Disease." International Journal of Molecular Sciences 21, no. 18 (2020): 6910. http://dx.doi.org/10.3390/ijms21186910.

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Huntington’s disease is a progressive, autosomal dominant, neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. As a result, the translated protein, huntingtin, contains an abnormally long polyglutamine stretch that makes it prone to misfold and aggregating. Aggregation of huntingtin is believed to be the cause of Huntington’s disease. However, understanding on how, and why, huntingtin aggregates are deleterious has been hampered by lack of enough relevant structural data. In this review, we discuss our recent findings on a glutamine-based functional amyloid isol
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Dissertations / Theses on the topic "Huntingtin Gene"

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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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Books on the topic "Huntingtin Gene"

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Zuccato, Chiara, and Elena Cattaneo. Normal Function of Huntingtin. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199929146.003.0011.

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Huntingtin (HTT) is the 3,144–amino acid protein product of the Huntington’s disease gene (HTT), which can be traced back through 800 million years of evolution. It carries a trinucleotide CAG repeat that encodes polyglutamine (polyQ) at an evolutionarily conserved NH2-terminal position in exon 1. This chapter discusses the discoveries that have mapped the evolutionary history of HTT and the CAG repeat and the critical role of the protein in development as well as its activities in the adult brain. During embryogenesis, HTT is critical for gastrulation, neurulation, and neurogenesis. In the ad
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Cazeneuve, Cécile, and Alexandra Durr. Genetic and Molecular Studies. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199929146.003.0006.

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Huntington’s disease (HD) is a rare inherited neurologic disorder due to a single mutational mechanism in a large gene (HTT). The mutation is an abnormal CAG repeat expansion, which is translated to a polyglutamine stretch in the huntingtin protein. The growing field of repeat expansion disorders benefits greatly from the lessons learned from the role of the CAG repeat expansion in HD and its resulting phenotype–genotype correlations. The molecular diagnosis can be difficult, and there are some pitfalls for accurate sizing of the CAG repeat, especially in juvenile HD and for intermediate allel
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Waldvogel, Henry J., Eric H. Kim, Lynette J. Tippett, Jean-Paul G. Vonsattel, and Richard L. M. Faull. Neuropathology in the Human Brain. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199929146.003.0009.

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The neuropathology of Huntington’s disease (HD) has been studied for many years, but it is only now becoming clear that despite the disease being caused by dysfunction of a single gene, expressed as an expanded polyglutamine in the huntingtin protein, there is a major variability in the pathology throughout different brain regions, especially the basal ganglia and cerebral cortex. Also, the symptoms present as varying degrees of involuntary movements, mood, personality changes, cognitive changes, and dementia, which can vary throughout the course of the disease and vary greatly between cases.
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Hughes, Alis, and Lesley Jones. Pathogenic Mechanisms. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199929146.003.0013.

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Huntington’s disease (HD) pathogenesis is complex. In the two decades since the gene and its mutation were discovered, there has been extensive exploration of how the expanded CAG repeat in HTT leads to neurodegeneration in HD. This chapter focuses on the mechanisms that potentially contribute to the dysfunction and death of cells in HD. These include repeat instability and RNA toxicity and the production, processing, modification, and degradation of mutant huntingtin. The effects of mutant HTT on cellular processes such as transcription, transport, neurotransmission, and protein clearance are
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Bates, Gillian P., and Christian Landles. Preclinical Experimental Therapeutics. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199929146.003.0016.

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This chapter begins by reviewing the mammalian models of Huntington’s disease (HD) that have been developed using mice, rats, and a number of large animals, including sheep, pigs, and nonhuman primates. Analysis of these models, together with genetically engineered mice created through specific manipulations of the mouse genome, has provided considerable insights into the molecular pathogenesis of HD. The number of potential therapeutic targets that have been proposed for HD is considerable, and their preclinical evaluation in HD mouse models is being used to select targets that should be purs
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Glimm, Adele. Gene Hunter: The Story of Nancy Wexler. Scholastic, 2005.

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Huntington’s Disease. Exon Publications, 2024. http://dx.doi.org/10.36255/huntingtons-disease.

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Huntington’s Disease is a progressive genetic disorder that affects the brain, causing physical, cognitive, and emotional challenges. This article is a comprehensive guide that explains the disease in detail, addressing its causes, inheritance patterns, symptoms, and treatment options. It begins with an introduction to the condition, followed by a discussion of its prevalence and the different forms it can take, such as adult-onset and juvenile Huntington’s Disease. The article explores the genetic basis of the disease, focusing on the role of the HTT gene, and explains how the condition is in
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Glimm, Adele. Gene Hunter: The Story of Neuropsychologist Nancy Wexler. National Academies Press, 2006.

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Glimm, Adele. Gene Hunter: The Story of Neuropsychologist Nancy Wexler (Women's Adventures in Science). Joseph Henry Press, 2006.

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Gene Hunter: The Story Of Neuropsychologist Nancy Wexler (Women's Adventures in Science). Franklin Watts, 2005.

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Book chapters on the topic "Huntingtin Gene"

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Quarrell, Oliver. "The genetics of Huntington’s disease." In Huntington's Disease. Oxford University Press, 2020. http://dx.doi.org/10.1093/oso/9780198844389.003.0005.

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This chapter describes the nature of the genetic mistake. The genetic code, or DNA molecule, is wound up onto structures called chromosomes. The gene for HD is located on chromosome 4. As we have two copies of our genes the chromosomes are in pairs. Only one copy of the HD has to be abnormal to cause the condition. This results in a pattern of inheritance called autosomal dominant and both males and females can be affected. Genes code for proteins; the protein encoded by the HD gene is called huntingtin. Proteins are made of building blocks called amino acids. The gene for HD has an expansion
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Déglon, Nicole. "From huntingtin gene to Huntington’s disease-altering strategies." In Disease-Modifying Targets in Neurodegenerative Disorders. Elsevier, 2017. http://dx.doi.org/10.1016/b978-0-12-805120-7.00010-5.

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"Huntington’s Disease: Public Education." In Huntington’s Disease. Exon Publications, 2024. http://dx.doi.org/10.36255/huntingtons-disease-public-education.

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Huntington’s disease is a complex genetic disorder that affects the brain, leading to progressive physical, mental, and emotional challenges. This article explains Huntington’s disease in simple terms, offering clear and comprehensive information for patients, caregivers, and the general public. It covers the condition’s origins, the role of the huntingtin gene, symptoms, diagnostic methods, and the latest treatments and management strategies. By addressing key aspects of the disease, this article serves as a reliable resource for understanding Huntington’s disease and the journey it entails,
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G. Brown, Taylor, and Liam Chen. "Neuropathology of Huntington’s Disease." In From Pathophysiology to Treatment of Huntington's Disease [Working Title]. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.106664.

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Huntington’s disease (HD) is a devastating neurodegenerative disease that results in motor, cognitive, and psychiatric impairments. HD results from an autosomal dominant polyglutamine expansion in the huntingtin (HTT) gene that results in a misfolded and aggregated protein. The disease is uniformly fatal and demonstrates characteristic neuropathological changes. While the striatum is preferentially affected, the cortex and many other brain regions are involved in pathogenesis and show progressive changes throughout the disease.
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Quarrell, Oliver. "Clinical research." In Huntington's Disease. Oxford University Press, 2020. http://dx.doi.org/10.1093/oso/9780198844389.003.0012.

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This chapter explains some of the research activities which are currently in place. It describes the global research platform called ENROLL-HD. It also describes the process of undertaking a clinical trial. The current clinical trials are focusing on lowering the amount of huntingtin in the cells of the brain especially the caudate and putamen nuclei. The plan is to interfere with the chemical message between the gene and the protein-making machinery of the cell. These drugs are called anti-sense oligonucleotides (ASOs). It is not known if these treatments will result in an alteration of the n
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Rocha, Natalia Pessoa, Andy Liu, Karen Anderson, and Erin Furr Stimming. "Huntington’s Disease." In Movement Disorders in Psychiatry, edited by Antonio L. Teixeira, Erin Furr Stimming, and William G. Ondo. Oxford University PressNew York, 2022. http://dx.doi.org/10.1093/med/9780197574317.003.0015.

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Abstract Huntington’s disease (HD) is a neurodegenerative disease caused by a CAG repeat expansion in the huntingtin (HTT) gene on chromosome 4p16.3. The result is an abnormally long polyglutamine repeat in the huntingtin protein (HTT), which will aggregate in neuronal nuclei, cytoplasm, dendrites, and axon terminals. Striatal degeneration is the main change observed in HD brains, and although HTT misfold and aggregation is regarded as the pathological hallmark of HD, the mechanisms underlying neuronal death/dysfunction in HD are not completely understood. Clinically, HD is traditionally defin
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Chaudhary, Rajeev K., Kinjal A. Patel, and Ipsita Roy. "Inhibition of Aggregation of Mutant Huntingtin by Nucleic Acid Aptamers In Vitro and in a Yeast Model of Huntington’s Disease." In Gene Therapy in Neurological Disorders. Elsevier, 2018. http://dx.doi.org/10.1016/b978-0-12-809813-4.00010-7.

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Margolis, Russell L. "Dementia due to Huntington’s disease." In New Oxford Textbook of Psychiatry, edited by John R. Geddes, Nancy C. Andreasen, and Guy M. Goodwin. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198713005.003.0045.

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Huntington’s disease (HD), first described in 1872, is perhaps the prototypical hereditary dementia and movement disorder. Key features include autosomal dominant inheritance, typically mid-life clinical onset, and a clinical triad of abnormal voluntary and involuntary movements, subcortical dementia, and psychiatric symptoms. The disease progresses inevitably, with death typically 15–20 years after onset. Neurodegeneration is most prominent in the striatum and cerebral cortex. The discovery of the causative mutation, an expanded CAG repeat in the gene huntingtin, has led to the development of
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Siddiqui, Sarfraj Ahmad, and Anand Prakash. "Huntington's Disease: Molecular Basis, Pathophysiology and Biomarker." In Neurodegenerative Diseases - Multifactorial Degenerative Processes, Biomarkers and Therapeutic Approaches (First Edition). BENTHAM SCIENCE PUBLISHERS, 2022. http://dx.doi.org/10.2174/9789815040913122010009.

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Huntington's disease (HD), a hereditary autosomal dominant neurodegenerative disorder is characterised by weak cognitive and motor functions. The symptoms most commonly prevail among 30-50 years age group people. The coordination and movement abilities gradually worsen, and mental abilities mostly decline that progress towards dementia. The basis behind the HD disease is neuronal death due to mutations in huntingtin (HTT) protein, a protein required for the development and survival of neurons. There is an increase in the number of CAG repeats that generally code for glutamine within the HTT ge
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R Dutra, Juliana, Tanya P Garcia, and Karen Marder. "Huntington’s disease." In Oxford Textbook of Neurologic and Neuropsychiatric Epidemiology, edited by Carol Brayne, Valery L. Feigin, Lenore J. Launer, and Giancarlo Logroscino. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198749493.003.0010.

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Huntington’s disease (HD) is an autosomal dominant, neurodegenerative disorder caused by an unstable expansion in the cytosine adenine guanine (CAG) trinucleotide repeat in the huntingtin gene. The disease onsets gradually over many years and its symptoms include extrapyramidal movement disorder, cognitive impairment, and behavioural changes. Understanding the overall progression of HD is critical to designing clinical trials with possible disease modifying agents. Research in this area has exploded in the past two decades, as different multicentre studies have evaluated both clinical and biol
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Conference papers on the topic "Huntingtin Gene"

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Skarping, Karin Dalene, Åsa Petersén, and Samuel Gebre-Medhin. "C09 Huntingtin gene CAG repeat size in patients with lynch syndrome." In EHDN 2022 Plenary Meeting, Bologna, Italy, Abstracts. BMJ Publishing Group Ltd, 2022. http://dx.doi.org/10.1136/jnnp-2022-ehdn.53.

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Klima, Jiri, Melvin M. Evers, Jana Miniarikova, et al. "I04 AAV5-MIHTT gene therapy demonstrates broad distribution and strong human mutant huntingtin lowering in a huntington disease minipig model." In EHDN 2018 Plenary Meeting, Vienna, Austria, Programme and Abstracts. BMJ Publishing Group Ltd, 2018. http://dx.doi.org/10.1136/jnnp-2018-ehdn.240.

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Parfenova, P. S., N. A. Mikhailova, M. G. Khotin, and N. A. Kraskovskaya. "DIRECT REPROGRAMMING OF PATIENT FIBROBLAST INTO NEURON-LIKE CELLS AS A PROMISING MODEL OF HUNTINGTON’S DISEASE." In X Международная конференция молодых ученых: биоинформатиков, биотехнологов, биофизиков, вирусологов и молекулярных биологов — 2023. Novosibirsk State University, 2023. http://dx.doi.org/10.25205/978-5-4437-1526-1-111.

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The existing research of molecular mechanisms of Huntington’s disease (HD) progression, is expanded here by providing a modified method of direct reprogramming fibroblasts into neuron-like cells that keeps epigenetic changes important for late-onset HD progression. The HD cause seen as an expansion of CAG repeats within the Huntingtin gene. We anticipate our assay to be a starting point for preclinical trials on human cells rather than on mouse models.
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Valls, Astrid, Cynthia Brouwers, Roberta Pintauro, et al. "I05 Sustained mutant huntingtin lowering in the brain and cerebrospinal fluid of huntington disease minipigs mediated by AAV5-MIHTT gene therapy." In EHDN 2018 Plenary Meeting, Vienna, Austria, Programme and Abstracts. BMJ Publishing Group Ltd, 2018. http://dx.doi.org/10.1136/jnnp-2018-ehdn.241.

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Fonseca, Gustavo Soares Gomes Barros, Maria Luiza Mendes Machado, and Paulo Victor Protásio Bezerra. "Analysis of the impact of Tominersen (IONIS-HTTRX/RG6042) in the treatment of Huntington’s disease: A systematic review." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.046.

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Introduction: Huntington’s disease (HD) is a congenital pathology of a hereditary, neurodegenerative and progressive character, with a high mortality rate. This pathology is caused by repeated expansions of a single CAG codon in the gene encoding huntingtin. To date, several attempts to prevent and delay such a mutation have been carried out in patients. However, a promising drug, Tominersen, formerly called IONIS HTTRx/ RG6042, is in the testing phase and has shown a favorable therapeutic response, which acts directly on the messenger RNA of the gene encoding huntingtin (HTT). The drug, whose
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Bent, Leontien van der, Cynthia Brouwers, Robin Pocornie, et al. "I04 Aav5-mihtt gene therapy mediates sustained mutant huntingtin lowering in brain and cerebrospinal fluid of Huntington disease minipigs up to 4 years." In EHDN 2022 Plenary Meeting, Bologna, Italy, Abstracts. BMJ Publishing Group Ltd, 2022. http://dx.doi.org/10.1136/jnnp-2022-ehdn.230.

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7

"An increase in the number of CAG repeats in the huntingtin gene enhances pathological ultrastructural aberrations in the cells and neurons." In Bioinformatics of Genome Regulation and Structure/Systems Biology (BGRS/SB-2022) :. Institute of Cytology and Genetics, the Siberian Branch of the Russian Academy of Sciences, 2022. http://dx.doi.org/10.18699/sbb-2022-499.

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8

Nanetti, Lorenzo, Alessia Mongelli, Anna Castaldo, et al. "G08 An italian study to estimate the frequency of the intermediate triplet length in the huntingtin gene: 1/20 subject carries an allele with 27–35 cag." In EHDN 2018 Plenary Meeting, Vienna, Austria, Programme and Abstracts. BMJ Publishing Group Ltd, 2018. http://dx.doi.org/10.1136/jnnp-2018-ehdn.181.

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9

Elhaj, Ahmed, Ninous Philip, Qaiss Al-Jumaili, Tara Bajlan, and Amani Elfaki. "Cranio-Facial Changes the in Patients with Huntington Disease, A Review Article." In 5th International Conference on Biomedical and Health Sciences. Cihan University-Erbil, 2024. http://dx.doi.org/10.24086/biohs2024/paper.1175.

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Huntington's disease (HD) is a rare autosomal dominant sever and usually fatal chronic neurodegenerative illness with prevalence of 5.96 to 13.7 per 100000. The primary pathology is the precipitation of huntingtin protein in the neurons due to the presence of multiple CAG repeat in the N terminal of the HTT gene on the short arm of chromosome 4. Classically this is well known to primarily affect the caudate nucleus the largest of the basal ganglia. This manifests radiologically by shrinkage of the caudate nucleus with secondary dilatation of ventricular system. This however cannot explain the
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10

Melo, Leonardo José Rodrigues de Araújo, Pedro Vitor Ferreira Rodrigues, Amanda Pereira Sindeaux Pinheiro, Lucas Soares Radtke, and Francisco Luciano Honório Barreto. "Huntington’s disease mortality in Brazil from 2011 to 2020: an epidemiological study." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.390.

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Introduction: Huntington’s Disease (HD) is a dominant genetic neurodegenerative pathology, with full penetrance, characterized by the CAG expansion of the huntingtin gene on chromosome 4, leading to neuronal death due to protein accumulation, which generates clinical presentation of motor, cognitive and psychiatric symptoms, especially Huntington’s chorea. Objectives: To describe the epidemiological profile of mortality from HD in Brazil between the years 2011 to 2020. Methods: This work is an epidemiological investigation study of HD mortality between the years 2011 to 2020. Data were collect
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