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Journal articles on the topic 'Huntingtin Gene'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

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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3

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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Thomson, Sarah B., and Blair R. Leavitt. "Transcriptional Regulation of the Huntingtin Gene." Journal of Huntington's Disease 7, no. 4 (2018): 289–96. http://dx.doi.org/10.3233/jhd-180331.

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Wang, Ruitao, Yawen Luo, Philip T. T. Ly, et al. "Sp1 Regulates Human Huntingtin Gene Expression." Journal of Molecular Neuroscience 47, no. 2 (2012): 311–21. http://dx.doi.org/10.1007/s12031-012-9739-z.

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13

Novelletto, Andrea, Francesca Persichetti, Guglielmo Sabbadini, et al. "Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease." Human Molecular Genetics 3, no. 7 (1994): 1129–32. http://dx.doi.org/10.1093/hmg/3.7.1129.

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Hadzsiev, Kinga, Mónika Szőts, Anett Fekete, et al. "Neuroacanthocytosis diagnózisa új generációs exom-szekvenálással." Orvosi Hetilap 158, no. 42 (2017): 1681–84. http://dx.doi.org/10.1556/650.2017.30880.

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Abstract: In a patient with marked symptoms of Huntington disease after the huntingtin testing, which gave normal result, a whole exome sequencing (WES) has been performed based on an international collaboration. A homozygous G>A nucleotid change in the exon 34 of the VPS13A gene has been detected with WES, a mutation resulting in a premature stop codon at the position 1301. This change is a known pathogenic mutation. The aim of this article is to draw attention on the importance of the WES in the diagnosis of rare neurological diseases without any specific symptoms. Orv Hetil. 2017; 158(42

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Vagner, Tatyana, Deborah Young, and Alexandre Mouravlev. "Nucleic Acid-Based Therapy Approaches for Huntington's Disease." Neurology Research International 2012 (2012): 1–9. http://dx.doi.org/10.1155/2012/358370.

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Huntington's disease (HD) is caused by a dominant mutation that results in an unstable expansion of a CAG repeat in the huntingtin gene leading to a toxic gain of function in huntingtin protein which causes massive neurodegeneration mainly in the striatum and clinical symptoms associated with the disease. Since the mutation has multiple effects in the cell and the precise mechanism of the disease remains to be elucidated, gene therapy approaches have been developed that intervene in different aspects of the condition. These approaches include increasing expression of growth factors, decreasing

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Amaro, I. Alexandra, and Lee A. Henderson. "An Intrabody Drug (rAAV6-INT41) Reduces the Binding of N-Terminal Huntingtin Fragment(s) to DNA to Basal Levels in PC12 Cells and Delays Cognitive Loss in the R6/2 Animal Model." Journal of Neurodegenerative Diseases 2016 (August 10, 2016): 1–10. http://dx.doi.org/10.1155/2016/7120753.

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Huntington’s disease (HD) is a fatal progressive disease linked to expansion of glutamine repeats in the huntingtin protein and characterized by the progressive loss of cognitive and motor function. We show that expression of a mutant human huntingtin exon-1-GFP fusion construct results in nonspecific gene dysregulation that is significantly reduced by 50% due to coexpression of INT41, an intrabody specific for the proline-rich region of the huntingtin protein. Using stable PC12 cell lines expressing either inducible human mutant huntingtin (mHtt, Q73) or normal huntingtin (nHtt, Q23), we inve

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Liu, I. Im. "CRISPR/Cas9 gene editing: A promising approach towards Huntingtons Disease." Theoretical and Natural Science 24, no. 1 (2023): 19–24. http://dx.doi.org/10.54254/2753-8818/24/20231089.

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Huntington's Disease (HD) is an incurable neurodegenerative condition marked by the gradual decline of motor abilities, cognitive capabilities, and emotional stability. It results from a mutation in the Huntingtin gene (HTT), which triggers the generation of a harmful variant of the Huntingtin protein known as mutant Huntingtin (mHTT). Despite significant advancements in understanding the disease's molecular basis, effective treatments to halt or reverse its progression remain elusive. Over the past few years, the groundbreaking genetic modification technique called Clustered Regularly Intersp

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Tellone, Ester, Antonio Galtieri, and Silvana Ficarra. "Reviewing Biochemical Implications of Normal and Mutated Huntingtin in Huntington’s Disease." Current Medicinal Chemistry 27, no. 31 (2020): 5137–58. http://dx.doi.org/10.2174/0929867326666190621101909.

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Huntingtin (Htt) is a multi-function protein of the brain. Normal Htt shows a common alpha-helical structure but conformational changes in the form with beta strands are the principal cause of Huntington’s disease. Huntington’s disease is a genetic neurological disorder caused by a repeated expansion of the CAG trinucleotide, causing instability in the N-terminal of the gene coding for the Huntingtin protein. The mutation leads to the abnormal expansion of the production of the polyglutamine tract (polyQ) resulting in the form of an unstable Huntingtin protein commonly referred to as mutant Hu

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Bono-Yagüe, José, Ana Pilar Gómez-Escribano, José María Millán, and Rafael Pascual Vázquez-Manrique. "Reactive Species in Huntington Disease: Are They Really the Radicals You Want to Catch?" Antioxidants 9, no. 7 (2020): 577. http://dx.doi.org/10.3390/antiox9070577.

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Huntington disease (HD) is a neurodegenerative condition and one of the so-called rare or minority diseases, due to its low prevalence (affecting 1–10 of every 100,000 people in western countries). The causative gene, HTT, encodes huntingtin, a protein with a yet unknown function. Mutant huntingtin causes a range of phenotypes, including oxidative stress and the activation of microglia and astrocytes, which leads to chronic inflammation of the brain. Although substantial efforts have been made to find a cure for HD, there is currently no medical intervention able to stop or even delay progress

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Dorsman, J. C., M. A. Smoor, M. L. C. Maat Schieman, et al. "Analysis of the subcellular localization of huntingtin with a set of rabbit polyclonal antibodies in cultured mammalian cells of neuronal origin: comparison with the distribution of huntingtin in Huntington'sdisease autopsy brain." Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 354, no. 1386 (1999): 1061–67. http://dx.doi.org/10.1098/rstb.1999.0459.

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Huntington'sdisease (HD) is a neurodegenerative disorder with a midlife onset. The disease is caused by expansion of a CAG (glutamine) repeat within the coding region of the HD gene. The molecular mechanism by which the mutated protein causes this disease is still unclear. To study the protein we have generated a set of rabbit polyclonal antibodies raised against different segments of the N–terminal, central and C–terminal parts of the protein. The polyclonal antibodies were affinity purified and characterized in ELISA and Western blotting experiments. All antibodies can react with the mouse a

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Sari, Meliana, and Ahsanal Kasasiah. "Tinjauan Literatur Sistematis; Pemanfaatan Teknologi CRISPR-CAS9 Untuk Pengobatan Penyakit Huntington’s." Media Farmasi 20, no. 2 (2024): 151–60. http://dx.doi.org/10.32382/mf.v20i2.704.

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A Systematic Literature Review: Utilization of CRISPR-CAS9 Technology for Treating Huntington's Disease Huntington's Disease (HD) is a neurodegenerative disorder caused by a CAG triple expansion (>36) in the first exon of the HTT gene encoding the huntingtin protein. Advances in gene editing technologies, such as CRISPR-Cas9, provide new hope for correcting the genetic mutations underlying HD. This review article aims to review the potential and effectiveness of CRISPR-Cas9 technology as a therapeutic tool for HD. The writing method used was Systematic Literature Review, with literature sea

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Ross, Theodora S., Olivier A. Bernard, Roland Berger та D. Gary Gilliland. "Fusion of Huntingtin Interacting Protein 1 to Platelet-Derived Growth Factor β Receptor (PDGFβR) in Chronic Myelomonocytic Leukemia With t(5;7)(q33;q11.2)". Blood 91, № 12 (1998): 4419–26. http://dx.doi.org/10.1182/blood.v91.12.4419.

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Abstract We report the fusion of the Huntingtin interactin protein 1(HIP1) gene to the platelet-derived growth factor βreceptor (PDGFβR) gene in a patient with chronic myelomonocytic leukemia (CMML) with a t(5;7)(q33;q11.2) translocation. Southern blot analysis of patient bone marrow cells with a PDGFβR gene probe demonstrated rearrangement of the PDGFβR gene. Anchored polymerase chain reaction using PDGFβRprimers identified a chimeric transcript containing the HIP1gene located at 7q11.2 fused to the PDGFβR gene on 5q33. HIP1 is a 116-kD protein recently cloned by yeast two-hybrid screening fo

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Ross, Theodora S., Olivier A. Bernard, Roland Berger та D. Gary Gilliland. "Fusion of Huntingtin Interacting Protein 1 to Platelet-Derived Growth Factor β Receptor (PDGFβR) in Chronic Myelomonocytic Leukemia With t(5;7)(q33;q11.2)". Blood 91, № 12 (1998): 4419–26. http://dx.doi.org/10.1182/blood.v91.12.4419.412k43_4419_4426.

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We report the fusion of the Huntingtin interactin protein 1(HIP1) gene to the platelet-derived growth factor βreceptor (PDGFβR) gene in a patient with chronic myelomonocytic leukemia (CMML) with a t(5;7)(q33;q11.2) translocation. Southern blot analysis of patient bone marrow cells with a PDGFβR gene probe demonstrated rearrangement of the PDGFβR gene. Anchored polymerase chain reaction using PDGFβRprimers identified a chimeric transcript containing the HIP1gene located at 7q11.2 fused to the PDGFβR gene on 5q33. HIP1 is a 116-kD protein recently cloned by yeast two-hybrid screening for protein

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Shema, Reut, Ruth Kulicke, Glenn S. Cowley, Rachael Stein, David E. Root, and Myriam Heiman. "Synthetic lethal screening in the mammalian central nervous system identifies Gpx6 as a modulator of Huntington’s disease." Proceedings of the National Academy of Sciences 112, no. 1 (2014): 268–72. http://dx.doi.org/10.1073/pnas.1417231112.

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Huntington’s disease, the most common inherited neurodegenerative disease, is characterized by a dramatic loss of deep-layer cortical and striatal neurons, as well as morbidity in midlife. Human genetic studies led to the identification of the causative gene, huntingtin. Recent genomic advances have also led to the identification of hundreds of potential interacting partners for huntingtin protein and many hypotheses as to the molecular mechanisms whereby mutant huntingtin leads to cellular dysfunction and death. However, the multitude of possible interacting partners and cellular pathways aff

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Taran, Aleksandra S., Lilia D. Shuvalova, Maria A. Lagarkova, and Irina B. Alieva. "Huntington’s Disease—An Outlook on the Interplay of the HTT Protein, Microtubules and Actin Cytoskeletal Components." Cells 9, no. 6 (2020): 1514. http://dx.doi.org/10.3390/cells9061514.

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Huntington’s disease is a severe and currently incurable neurodegenerative disease. An autosomal dominant mutation in the Huntingtin gene (HTT) causes an increase in the polyglutamine fragment length at the protein N-terminus. The consequence of the mutation is the death of neurons, mostly striatal neurons, leading to the occurrence of a complex of motor, cognitive and emotional-volitional personality sphere disorders in carriers. Despite intensive studies, the functions of both mutant and wild-type huntingtin remain poorly understood. Surprisingly, there is the selective effect of the mutant

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Voelkl, Kerstin, Sara Gutiérrez-Ángel, Sophie Keeling, et al. "Neuroprotective effects of hepatoma-derived growth factor in models of Huntington’s disease." Life Science Alliance 6, no. 11 (2023): e202302018. http://dx.doi.org/10.26508/lsa.202302018.

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Huntington’s disease (HD) is a movement disorder caused by a mutation in the Huntingtin gene that leads to severe neurodegeneration. Molecular mechanisms of HD are not sufficiently understood, and no cure is currently available. Here, we demonstrate neuroprotective effects of hepatoma-derived growth factor (HDGF) in cellular and mouse HD models. We show that HD-vulnerable neurons in the striatum and cortex express lower levels of HDGF than resistant ones. Moreover, lack of endogenous HDGF exacerbated motor impairments and reduced the life span of R6/2 Huntington’s disease mice. AAV-mediated de

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van der Plas, Ellen, Douglas R. Langbehn, Amy L. Conrad, et al. "Abnormal brain development in child and adolescent carriers of mutant huntingtin." Neurology 93, no. 10 (2019): e1021-e1030. http://dx.doi.org/10.1212/wnl.0000000000008066.

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ObjectiveThe huntingtin gene is critical for the formation and differentiation of the CNS, which raises questions about the neurodevelopmental effect of CAG expansion mutations within this gene (mHTT) that cause Huntington disease (HD). We sought to test the hypothesis that child and adolescent carriers of mHTT exhibit different brain growth compared to peers without the mutation by conducting structural MRI in youth who are at risk for HD. We also explored whether the length of CAG expansion affects brain development.MethodsChildren and adolescents (age 6–18) with a parent or grandparent diag

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Marxreiter, Franz, Judith Stemick, and Zacharias Kohl. "Huntingtin Lowering Strategies." International Journal of Molecular Sciences 21, no. 6 (2020): 2146. http://dx.doi.org/10.3390/ijms21062146.

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Trials using antisense oligonucleotide technology to lower Huntingtin levels in Huntington’s disease (HD) are currently ongoing. This progress, taking place only 27 years after the identification of the Huntingtin gene (HTT) in 1993 reflects the enormous development in genetic engineering in the last decades. It is also the result of passionate basic scientific work and large worldwide registry studies that have advanced the understanding of HD. Increased knowledge of the pathophysiology of this autosomal dominantly inherited CAG-repeat expansion mediated neurodegenerative disease has led to t

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Lazzeroni, Giulia, Tiziana Benicchi, Freddy Heitz, et al. "A Phenotypic Screening Assay for Modulators of Huntingtin-Induced Transcriptional Dysregulation." Journal of Biomolecular Screening 18, no. 9 (2013): 984–96. http://dx.doi.org/10.1177/1087057113484802.

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Huntington’s Disease is a rare neurodegenerative disease caused by an abnormal expansion of CAG repeats encoding polyglutamine in the first exon of the huntingtin gene. N-terminal fragments containing polyglutamine (polyQ) sequences aggregate and can bind to cellular proteins, resulting in several pathophysiological consequences for affected neurons such as changes in gene transcription. One transcriptional pathway that has been implicated in HD pathogenesis is the CREB binding protein (CBP)/cAMP responsive element binding (CREB) pathway. We developed a phenotypic assay to screen for compounds

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Chen, Tianle, Yuanjia Wang, Yanyuan Ma, Karen Marder, and Douglas R. Langbehn. "Predicting Disease Onset from Mutation Status Using Proband and Relative Data with Applications to Huntington's Disease." Journal of Probability and Statistics 2012 (2012): 1–19. http://dx.doi.org/10.1155/2012/375935.

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Huntington's disease (HD) is a progressive neurodegenerative disorder caused by an expansion of CAG repeats in the IT15 gene. The age-at-onset (AAO) of HD is inversely related to the CAG repeat length and the minimum length thought to cause HD is 36. Accurate estimation of the AAO distribution based on CAG repeat length is important for genetic counseling and the design of clinical trials. In the Cooperative Huntington's Observational Research Trial (COHORT) study, the CAG repeat length is known for the proband participants. However, whether a family member shares the huntingtin gene status (C

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Valor, Luis M. "Molecular Research on Huntington’s Disease." International Journal of Molecular Sciences 24, no. 5 (2023): 4310. http://dx.doi.org/10.3390/ijms24054310.

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Nørremølle, Anne, Olaf Rless, Jörg T. Eppien, Kirsten Fenger, Lis Hasholt, and Sven Asger Sørensen. "Trinucleotide repeat elongation in the Huntingtin gene in Huntington Disease patients from 71 Danish families." Human Molecular Genetics 2, no. 9 (1993): 1475–76. http://dx.doi.org/10.1093/hmg/2.9.1475.

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Kacher, Radhia, Antonin Lamazière, Nicolas Heck, et al. "CYP46A1 gene therapy deciphers the role of brain cholesterol metabolism in Huntington’s disease." Brain 142, no. 8 (2019): 2432–50. http://dx.doi.org/10.1093/brain/awz174.

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AbstractDysfunctions in brain cholesterol homeostasis have been extensively related to brain disorders. The main pathway for brain cholesterol elimination is its hydroxylation into 24S-hydroxycholesterol by the cholesterol 24-hydrolase, CYP46A1. Increasing evidence suggests that CYP46A1 has a role in the pathogenesis and progression of neurodegenerative disorders, and that increasing its levels in the brain is neuroprotective. However, the mechanisms underlying this neuroprotection remain to be fully understood. Huntington’s disease is a fatal autosomal dominant neurodegenerative disease cause

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Sanders, Shaun S., and Michael R. Hayden. "Aberrant palmitoylation in Huntington disease." Biochemical Society Transactions 43, no. 2 (2015): 205–10. http://dx.doi.org/10.1042/bst20140242.

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Huntington disease (HD) is an adult-onset neurodegenerative disease caused by a CAG expansion in the HTT gene. HD is characterized by striatal atrophy and is associated with motor, cognitive and psychiatric deficits. In the presence of the HD mutation, the interactions between huntingtin (HTT) and huntingtin interacting protein 14 (HIP14 or DHHC17) and HIP14-like (DHHC13, a HIP14 orthologue), palmitoyl acyltransferases for HTT, are disturbed, resulting in reduced palmitoylation of HTT. Genetic ablation of either Hip14 or Hip14l recapitulates many features of HD, including striatal atrophy and

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Rhutik, S. Patil, G. Vyas Sanjoli, T. Quazi Wasiyoddin, J. Tembhurnikar Harshwardhan, S. Milmile Priya, and J. Umekar Milind. "The gut microbiome in Huntington disease: A review." GSC Biological and Pharmaceutical Sciences 15, no. 3 (2021): 317–26. https://doi.org/10.5281/zenodo.5084252.

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Huntington's disease (HD) is a neurological disease caused by a trinucleotide repeat increase in the huntingtin (htt) gene, which is widely expressed in the brain and peripheral tissues. While many studies have focused on the cognitive, psychological, and motor symptoms of HD, however, the scope of peripheral pathology and its possible impact on central symptoms has received less attention. We hypothesised that because disruption of the gastrointestinal microbiota (gut dysbiosis) has lately been identified in a number of neurological and psychiatric illnesses, it might also occur in HD. In

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Ocampo-Ortega, Sergio Adrian, Vivany Maydel Sierra-Sanchez, Citlali Margarita Blancas-Napoles, et al. "Evaluation of an Antisense Oligonucleotide Targeting CAG Repeats: A Patient-Customized Therapy Study for Huntington’s Disease." Life 14, no. 12 (2024): 1607. https://doi.org/10.3390/life14121607.

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Huntington’s disease is a genetic disorder characterized by progressive neuronal cell damage in some areas of the brain; symptoms are commonly associated with chorea, rigidity and dystonia. The symptoms in Huntington’s Disease are caused by a pathological increase in the number of Cytokine-Adenine-Guanine (CAG) repeats on the first exon of the Huntingtin gene, which causes a protein to have an excessive number of glutamine residues; this alteration leads to a change in the protein’s conformation and function. Therefore, the purpose of this work was to design, synthesize and evaluate an antisen

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Kumar, Ashok, Vijay Kumar, Kritanjali Singh, et al. "Therapeutic Advances for Huntington’s Disease." Brain Sciences 10, no. 1 (2020): 43. http://dx.doi.org/10.3390/brainsci10010043.

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Huntington’s disease (HD) is a progressive neurological disease that is inherited in an autosomal fashion. The cause of disease pathology is an expansion of cytosine-adenine-guanine (CAG) repeats within the huntingtin gene (HTT) on chromosome 4 (4p16.3), which codes the huntingtin protein (mHTT). The common symptoms of HD include motor and cognitive impairment of psychiatric functions. Patients exhibit a representative phenotype of involuntary movement (chorea) of limbs, impaired cognition, and severe psychiatric disturbances (mood swings, depression, and personality changes). A variety of sym

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Raul, Juntas-Morales, De La Cruz Elisa, Esselin Florence, Pageot Nicolas, Taieb Guillaume, and Camu William. "Facial-onset sensory-motor neuronopathy, a rare variant of Huntington’s disease or chance association?" Journal of Neuroscience and Neurological Disorders 5, no. 2 (2021): 069–71. http://dx.doi.org/10.29328/journal.jnnd.1001053.

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Objectives: To describe a patient with facial-onset sensory-motor neuronopathy (FOSMN) that later developed Huntington’s disease (HD). Case report: A 62-year-old woman complained of progressive dysphagia 8 years before referral. At initial evaluation, there was excessive salivation, dysphagia, and sensory-motor trigeminal impairment. Denervation was noted on the upper limbs and the tongue. Blink reflexes were abolished. Genetic study of amyotrophic lateral sclerosis (ALS)-related genes was normal. She was diagnosed with FOSMN syndrome. Her clinical state progressively worsened with corneal ane

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Ross, Christopher A., Jonathan D. Wood, Gabriele Schilling, et al. "Polyglutamine pathogenesis." Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 354, no. 1386 (1999): 1005–11. http://dx.doi.org/10.1098/rstb.1999.0452.

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An increasing number of neurodegenerative disorders have been found to be caused by expanding CAG triplet repeats that code for polyglutamine. Huntington's disease (HD) is the most common of these disorders and dentato-rubral-pallidoluysian atrophy (DRPLA) is very similar to HD, but is caused by mutation in a different gene, making them good models to study. In this review, we will concentrate on the roles of protein aggregation, nuclear localization and proteolytic processing in disease pathogenesis. In cell model studies of HD, we have found that truncated N-terminal portions of huntingtin (

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Miyazaki, Haruko, Tomoyuki Yamanaka, Fumitaka Oyama, et al. "FACS-array–based cell purification yields a specific transcriptome of striatal medium spiny neurons in a murine Huntington disease model." Journal of Biological Chemistry 295, no. 29 (2020): 9768–85. http://dx.doi.org/10.1074/jbc.ra120.012983.

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Huntington disease (HD) is a neurodegenerative disorder caused by expanded CAG repeats in the Huntingtin gene. Results from previous studies have suggested that transcriptional dysregulation is one of the key mechanisms underlying striatal medium spiny neuron (MSN) degeneration in HD. However, some of the critical genes involved in HD etiology or pathology could be masked in a common expression profiling assay because of contamination with non-MSN cells. To gain insight into the MSN-specific gene expression changes in presymptomatic R6/2 mice, a common HD mouse model, here we used a transgenic

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Kalathur, Ravi Kiran Reddy, Joaquin Giner-Lamia, Susana Machado, Tania Barata, Kameshwar R. S. Ayasolla, and Matthias E. Futschik. "The unfolded protein response and its potential role in Huntington's disease elucidated by a systems biology approach." F1000Research 4 (March 2, 2016): 103. http://dx.doi.org/10.12688/f1000research.6358.2.

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Huntington ́s disease (HD) is a progressive, neurodegenerative disease with a fatal outcome. Although the disease-causing gene (huntingtin) has been known for over 20 years, the exact mechanisms leading to neuronal cell death are still controversial. One potential mechanism contributing to the massive loss of neurons observed in the brain of HD patients could be the unfolded protein response (UPR) activated by accumulation of misfolded proteins in the endoplasmic reticulum (ER). As an adaptive response to counter-balance accumulation of un- or misfolded proteins, the UPR upregulates transcript

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Tong, Huichun, Tianqi Yang, Shuying Xu, et al. "Huntington’s Disease: Complex Pathogenesis and Therapeutic Strategies." International Journal of Molecular Sciences 25, no. 7 (2024): 3845. http://dx.doi.org/10.3390/ijms25073845.

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Huntington’s disease (HD) arises from the abnormal expansion of CAG repeats in the huntingtin gene (HTT), resulting in the production of the mutant huntingtin protein (mHTT) with a polyglutamine stretch in its N-terminus. The pathogenic mechanisms underlying HD are complex and not yet fully elucidated. However, mHTT forms aggregates and accumulates abnormally in neuronal nuclei and processes, leading to disruptions in multiple cellular functions. Although there is currently no effective curative treatment for HD, significant progress has been made in developing various therapeutic strategies t

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Haque, Nadia S. K., and Ole Isacson. "Neurotrophic Factors NGF and FGF-2 Alter Levels of Huntingtin (IT15) in Striatal Neuronal Cell Cultures." Cell Transplantation 9, no. 5 (2000): 623–27. http://dx.doi.org/10.1177/096368970000900507.

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A mutation of the human IT15 gene is responsible for Huntington's disease (HD) and the causative factor in the major neuronal loss observed in the striatum. The growth factors basic fibroblast growth factor (FGF-2), nerve growth factor (NGF), and brain-derived neurotrophic factor (BDNF) improve survival and promote differentiation of striatal neurons, as well as exert a neuroprotective effect when such neurons are challenged with metabolic toxins or excitatory amino acids. Using Western blotting and striatal cell cultures, we found that FGF-2 increased the level of huntingtin in a dose-depende

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Yefimova, Marina G., Emile Béré, Anne Cantereau-Becq, et al. "Myelinosome Organelles in the Retina of R6/1 Huntington Disease (HD) Mice: Ubiquitous Distribution and Possible Role in Disease Spreading." International Journal of Molecular Sciences 22, no. 23 (2021): 12771. http://dx.doi.org/10.3390/ijms222312771.

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Visual deficit is one of the complications of Huntington disease (HD), a fatal neurological disorder caused by CAG trinucleotide expansions in the Huntingtin gene, leading to the production of mutant Huntingtin (mHTT) protein. Transgenic HD R6/1 mice expressing human HTT exon1 with 115 CAG repeats recapitulate major features of the human pathology and exhibit a degeneration of the retina. Our aim was to gain insight into the ultrastructure of the pathological HD R6/1 retina by electron microscopy (EM). We show that the HD R6/1 retina is enriched with unusual organelles myelinosomes, produced b

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Spronck, Elisabeth A., Cynthia C. Brouwers, Astrid Vallès, et al. "AAV5-miHTT Gene Therapy Demonstrates Sustained Huntingtin Lowering and Functional Improvement in Huntington Disease Mouse Models." Molecular Therapy - Methods & Clinical Development 13 (June 2019): 334–43. http://dx.doi.org/10.1016/j.omtm.2019.03.002.

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HOLZMANN, Carsten, Winfried MÄUELER, Dirk PETERSOHN, et al. "Isolation and characterization of the rat huntingtin promoter." Biochemical Journal 336, no. 1 (1998): 227–34. http://dx.doi.org/10.1042/bj3360227.

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Huntington's disease (HD) is a neurodegenerative disorder caused by a (CAG)>37 repeat expansion in a novel gene of unknown function. Although the huntingtin gene is expressed in neuronal and non-neuronal tissues, the disease affects nerve cells of selected regional areas of the central nervous system. To gain insight into the regulation of the HD gene we analysed 1348 bp of the rat huntingtin promoter region. This region lacks a TATA and a CAAT box, is rich in GC content and has several consensus sequences for binding sites for SP1, PEA3, Sif and H2A. The stretch between nucleotides -56 and

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Zuccato, Chiara, Marta Valenza, and Elena Cattaneo. "Molecular Mechanisms and Potential Therapeutical Targets in Huntington's Disease." Physiological Reviews 90, no. 3 (2010): 905–81. http://dx.doi.org/10.1152/physrev.00041.2009.

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Huntington's disease (HD) is a neurodegenerative disorder caused by a CAG repeat expansion in the gene encoding for huntingtin protein. A lot has been learned about this disease since its first description in 1872 and the identification of its causative gene and mutation in 1993. We now know that the disease is characterized by several molecular and cellular abnormalities whose precise timing and relative roles in pathogenesis have yet to be understood. HD is triggered by the mutant protein, and both gain-of-function (of the mutant protein) and loss-of-function (of the normal protein) mechanis

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SO, Chi Wai, Mai Har SHAM, Sze Lun CHEW, et al. "Expression and protein-binding studies of the EEN gene family, new interacting partners for dynamin, synaptojanin and huntingtin proteins." Biochemical Journal 348, no. 2 (2000): 447–58. http://dx.doi.org/10.1042/bj3480447.

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EEN, identified initially as a fusion partner to the mixed-lineage leukaemia gene in human leukaemia, and its related members, EEN-B1 and EEN-B2, have recently been shown to interact with two endocytic molecules, dynamin and synaptojanin, as well as with the huntingtin protein. In the present study, we show that the expression of the EEN gene-family members is differentially regulated. Multiple-spliced variants were identified for EEN-B2. In the brain, EEN-B1 and EEN-B2 mRNA are preferentially expressed in the cerebellar Purkinje and granule cells, dentate gyrus cells, hippocampal pyramidal ne

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Fiorillo, Annarita, Veronica Morea, Gianni Colotti, and Andrea Ilari. "Huntingtin Ubiquitination Mechanisms and Novel Possible Therapies to Decrease the Toxic Effects of Mutated Huntingtin." Journal of Personalized Medicine 11, no. 12 (2021): 1309. http://dx.doi.org/10.3390/jpm11121309.

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Huntington Disease (HD) is a dominant, lethal neurodegenerative disorder caused by the abnormal expansion (>35 copies) of a CAG triplet located in exon 1 of the HTT gene encoding the huntingtin protein (Htt). Mutated Htt (mHtt) easily aggregates, thereby inducing ER stress that in turn leads to neuronal injury and apoptosis. Therefore, both the inhibition of mHtt aggregate formation and the acceleration of mHtt degradation represent attractive strategies to delay HD progression, and even for HD treatment. Here, we describe the mechanism underlying mHtt degradation by the ubiquitin–proteasom

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Boado, Ruben J., Aleksey Kazantsev, Barbara L. Apostol, Leslie M. Thompson, and William M. Pardridge. "Antisense-Mediated Down-Regulation of the Human Huntingtin Gene." Journal of Pharmacology and Experimental Therapeutics 295, no. 1 (2000): 239–43. https://doi.org/10.1016/s0022-3565(24)38893-7.

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