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Huntingtin disease

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https://www.readbyqxmd.com/read/28813079/diffusion-tensor-imaging-of-brain-white-matter-in-huntington-gene-mutation-individuals
#1
Roberta Arb Saba, James H Yared, Thomas M Doring, Med Phys, Vanderci Borges, Henrique Ballalai Ferraz
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...
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28804999/diversity-of-astroglial-responses-across-human-neurodegenerative-disorders-and-brain-aging
#2
Isidro Ferrer
Astrogliopathy refers to alterations of astrocytes occurring in diseases of the nervous system, and it implies the involvement of astrocytes as key elements in the pathogenesis and pathology of diseases and injuries of the central nervous system. Reactive astrocytosis refers to the response of astrocytes to different insults to the nervous system, whereas astrocytopathy indicates hypertrophy, atrophy/degeneration and loss of function and pathological remodeling occurring as a primary cause of a disease or as a factor contributing to the development and progression of a particular disease...
September 2017: Brain Pathology
https://www.readbyqxmd.com/read/28792249/induced-neural-stem-cells-as-a-means-of-treatment-in-huntington-s-disease
#3
Kyung-Ah Choi, Sunghoi Hong
Huntington's disease (HD) is an inherited neurodegenerative disease characterized by chorea, dementia, and depression caused by progressive nerve cell degeneration, which is triggered by expanded CAG repeats in the huntingtin (Htt) gene. Currently, there is no cure for this disease, nor is there an effective medicine available to delay or improve the physical, mental, and behavioral severities caused by it. Areas covered: In this review, the authors describe the use of induced neural stem cells (iNSCs) by direct conversion technology, which offers great advantages as a therapeutic cell type to treat HD...
August 9, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/28771234/aav5-mihtt-gene-therapy-demonstrates-suppression-of-mutant-huntingtin-aggregation-and-neuronal-dysfunction-in-a-rat-model-of-huntington-s-disease
#4
J Miniarikova, V Zimmer, R Martier, C C Brouwers, C Pythoud, K Richetin, M Rey, J Lubelski, M M Evers, S J van Deventer, H Petry, N Déglon, P Konstantinova
Huntington's disease (HD) is a fatal progressive neurodegenerative disease caused by a mutation in the huntingtin (HTT) gene. To date, there is no treatment to halt or reverse the course of HD. Lowering of either total or only the mutant HTT expression is expected to have therapeutic benefit. This can be achieved by engineered micro (mi)RNAs targeting HTT transcripts and delivered by an adeno-associated viral (AAV) vector. We have previously showed a miHTT construct to induce total HTT knock-down in Hu128/21 HD mice, while miSNP50T and miSNP67T constructs induced allele-selective HTT knock-down in vitro...
August 3, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28762306/emerging-targets-and-latest-proteomics-based-therapeutic-approaches-in-neurodegenerative-diseases
#5
Munazza Tamkeen Fatima, Zeyaul Islam, Ejaj Ahmad, Parveen Salahuddin
Protein homeostasis (proteostasis) is achieved by the interplay among various components and pathways inside a cell. Dysfunction in proteostasis leads to protein misfolding and aggregation which is ubiquitously associated with many neurodegenerative disorders, although the exact role of these aggregate in the pathogenesis remains unknown. Many neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, and others are characterized by the conversion of specific proteins aggregates into protein inclusions and/or plaques in degenerating brains...
July 31, 2017: Current Protein & Peptide Science
https://www.readbyqxmd.com/read/28753941/proteostasis-of-huntingtin-in-health-and-disease
#6
REVIEW
Seda Koyuncu, Azra Fatima, Ricardo Gutierrez-Garcia, David Vilchez
Huntington's disease (HD) is a fatal neurodegenerative disorder characterized by motor dysfunction, cognitive deficits and psychosis. HD is caused by mutations in the Huntingtin (HTT) gene, resulting in the expansion of polyglutamine (polyQ) repeats in the HTT protein. Mutant HTT is prone to aggregation, and the accumulation of polyQ-expanded fibrils as well as intermediate oligomers formed during the aggregation process contribute to neurodegeneration. Distinct protein homeostasis (proteostasis) nodes such as chaperone-mediated folding and proteolytic systems regulate the aggregation and degradation of HTT...
July 19, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28743452/transcriptional-profiles-for-distinct-aggregation-states-of-mutant-huntingtin-exon-1-protein-unmask-new-huntington-s-disease-pathways
#7
Nagaraj S Moily, Angelique R Ormsby, Aleksandar Stojilovic, Yasmin M Ramdzan, Jeannine Diesch, Ross D Hannan, Michelle S Zajac, Anthony J Hannan, Alicia Oshlack, Danny M Hatters
Huntington's disease is caused by polyglutamine (polyQ)-expansion mutations in the CAG tandem repeat of the Huntingtin gene. The central feature of Huntington's disease pathology is the aggregation of mutant Huntingtin (Htt) protein into micrometer-sized inclusion bodies. Soluble mutant Htt states are most proteotoxic and trigger an enhanced risk of death whereas inclusions confer different changes to cellular health, and may even provide adaptive responses to stress. Yet the molecular mechanisms underpinning these changes remain unclear...
July 23, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/28740725/huntington-s-disease-calcium-dyshomeostasis-and-pathology-models
#8
Y A Kolobkova, V A Vigont, A V Shalygin, E V Kaznacheyeva
Huntington's 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...
April 2017: Acta Naturae
https://www.readbyqxmd.com/read/28733489/interaction-of-misfolded-proteins-and-mitochondria-in-neurodegenerative-disorders
#9
REVIEW
Andrey Y Abramov, Alexey V Berezhnov, Evgeniya I Fedotova, Valery P Zinchenko, Ludmila P Dolgacheva
The number of the people affected by neurodegenerative disorders is growing dramatically due to the ageing of population. The major neurodegenerative diseases share some common pathological features including the involvement of mitochondria in the mechanism of pathology and misfolding and the accumulation of abnormally aggregated proteins. Neurotoxicity of aggregated β-amyloid, tau, α-synuclein and huntingtin is linked to the effects of these proteins on mitochondria. All these misfolded aggregates affect mitochondrial energy metabolism by inhibiting diverse mitochondrial complexes and limit ATP availability in neurones...
July 21, 2017: Biochemical Society Transactions
https://www.readbyqxmd.com/read/28729730/a-selective-inhibitor-of-histone-deacetylase-3-prevents-cognitive-deficits-and-suppresses-striatal-cag-repeat-expansions-in-huntington-s-disease-mice
#10
Nuria Suelves, Lucy Kirkham-McCarthy, Robert S Lahue, Silvia Ginés
Huntington's disease (HD) is a neurodegenerative disorder whose major symptoms include progressive motor and cognitive dysfunction. Cognitive decline is a critical quality of life concern for HD patients and families. The enzyme histone deacetylase 3 (HDAC3) appears to be important in HD pathology by negatively regulating genes involved in cognitive functions. Furthermore, HDAC3 has been implicated in the aberrant transcriptional patterns that help cause disease symptoms in HD mice. HDAC3 also helps fuel CAG repeat expansions in human cells, suggesting that HDAC3 may power striatal expansions in the HTT gene thought to drive disease progression...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28715425/elimination-of-huntingtin-in-the-adult-mouse-leads-to-progressive-behavioral-deficits-bilateral-thalamic-calcification-and-altered-brain-iron-homeostasis
#11
Paula Dietrich, Irudayam Maria Johnson, Shanta Alli, Ioannis Dragatsis
Huntington's Disease (HD) is an autosomal dominant progressive neurodegenerative disorder characterized by cognitive, behavioral and motor dysfunctions. HD is caused by a CAG repeat expansion in exon 1 of the HD gene that is translated into an expanded polyglutamine tract in the encoded protein, huntingtin (HTT). While the most significant neuropathology of HD occurs in the striatum, other brain regions are also affected and play an important role in HD pathology. To date there is no cure for HD, and recently strategies aiming at silencing HTT expression have been initiated as possible therapeutics for HD...
July 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28701700/hdnetdb-a-molecular-interaction-database-for-network-oriented-investigations-into-huntington-s-disease
#12
Ravi Kiran Reddy Kalathur, José Pedro Pinto, Biswanath Sahoo, Gautam Chaurasia, Matthias E Futschik
Huntington's disease (HD) is a progressive and fatal neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. Although HD is monogenic, its molecular manifestation appears highly complex and involves multiple cellular processes. The recent application of high throughput platforms such as microarrays and mass-spectrometry has indicated multiple pathogenic routes. The massive data generated by these techniques together with the complexity of the pathogenesis, however, pose considerable challenges to researchers...
July 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28698602/polyglutamine-expansion-affects-huntingtin-conformation-in-multiple-huntington-s-disease-models
#13
Manuel Daldin, Valentina Fodale, Cristina Cariulo, Lucia Azzollini, Margherita Verani, Paola Martufi, Maria Carolina Spiezia, Sean M Deguire, Marta Cherubini, Douglas Macdonald, Andreas Weiss, Alberto Bresciani, Jean-Paul Gerard Vonsattel, Lara Petricca, J Lawrence Marsh, Silvia Gines, Iolanda Santimone, Massimo Marano, Hilal A Lashuel, Ferdinando Squitieri, Andrea Caricasole
Conformational changes in disease-associated or mutant proteins represent a key pathological aspect of Huntington's disease (HD) and other protein misfolding diseases. Using immunoassays and biophysical approaches, we and others have recently reported that polyglutamine expansion in purified or recombinantly expressed huntingtin (HTT) proteins affects their conformational properties in a manner dependent on both polyglutamine repeat length and temperature but independent of HTT protein fragment length. These findings are consistent with the HD mutation affecting structural aspects of the amino-terminal region of the protein, and support the concept that modulating mutant HTT conformation might provide novel therapeutic and diagnostic opportunities...
July 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28694434/laquinimod-treatment-in-the-r6-2-mouse-model
#14
Gisa Ellrichmann, Alina Blusch, Oluwaseun Fatoba, Janine Brunner, Liat Hayardeny, Michael Hayden, Dominik Sehr, Konstanze F Winklhofer, Carsten Saft, Ralf Gold
The transgenic mouse model R6/2 exhibits Huntington's disease (HD)-like deficits and basic pathophysiological similarities. We also used the pheochromocytoma-12 (PC12)-cell-line-model to investigate the effect of laquinimod on metabolic activity. Laquinimod is an orally administered immunomodulatory substance currently under development for the treatment of multiple sclerosis (MS) and HD. As an essential effect, increased levels of BDNF were observed. Therefore, we investigated the therapeutic efficacy of laquinimod in the R6/2 model, focusing on its neuroprotective capacity...
July 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28680391/the-role-of-the-multifunctional-bag3-protein-in-cellular-protein-quality-control-and-in-disease
#15
REVIEW
Elisabeth Stürner, Christian Behl
In neurons, but also in all other cells the complex proteostasis network is monitored and tightly regulated by the cellular protein quality control (PQC) system. Beyond folding of newly synthesized polypeptides and their refolding upon misfolding the PQC also manages the disposal of aberrant proteins either by the ubiquitin-proteasome machinery or by the autophagic-lysosomal system. Aggregated proteins are primarily degraded by a process termed selective macroautophagy (or aggrephagy). One such recently discovered selective macroautophagy pathway is mediated by the multifunctional HSP70 co-chaperone BAG3 (BCL-2-associated athanogene 3)...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28674979/huntington-s-disease-pathogenic-mechanisms-and-therapeutic-targets
#16
Dean J Wright, Thibault Renoir, Laura J Gray, Anthony J Hannan
Huntington's disease (HD) is a tandem repeat disorder involving neurodegeneration and a complex combination of symptoms. These include psychiatric symptoms, cognitive deficits culminating in dementia, and the movement disorder epitomised by motor signs such as chorea. HD is caused by a CAG repeat expansion encoding an extended tract of the amino acid glutamine in the huntingtin protein. This polyglutamine expansion appears to induce a 'change of function', possibly a 'gain of function', in the huntingtin protein, which leads to various molecular and cellular cascades of pathogenesis...
2017: Advances in Neurobiology
https://www.readbyqxmd.com/read/28674491/microglial-activation-in-the-pathogenesis-of-huntington-s-disease
#17
REVIEW
Hui-Ming Yang, Su Yang, Shan-Shan Huang, Bei-Sha Tang, Ji-Feng Guo
Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by expanded CAG trinucleotide repeats (>36) in exon 1 of HTT gene that encodes huntingtin protein. Although HD is characterized by a predominant loss of neurons in the striatum and cortex, previous studies point to a critical role of aberrant accumulation of mutant huntingtin in microglia that contributes to the progressive neurodegeneration in HD, through both cell-autonomous and non-cell-autonomous mechanisms...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28673965/accumulation-of-autophagosomes-confers-cytotoxicity
#18
Robert W Button, Sheridan L Roberts, Thea L Willis, C Oliver Hanemann, Shouqing Luo
Autophagy comprises the processes of autophagosome synthesis and lysosomal degradation. In certain stress conditions, increased autophagosome synthesis may be associated with decreased lysosomal activity, which may result in reduced processing of the excessive autophagosomes by the rate-limiting lysosomal activity. Thus, the excessive autophagosomes in such situations may be largely unfused to lysosomes, and their formation/accumulation in the conditions is supposed to be futile for autophagy. The cytotoxicity role of accumulation of autophagosomes (representing synthesis of autophagosomes subsequently unfused to lysosomes) has not been previously investigated...
July 3, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28662109/phosphorylation-of-the-19s-regulatory-particle-atpase-subunit-rpt6-modifies-susceptibility-to-proteotoxic-stress-and-protein-aggregation
#19
Esther Magdalena Marquez-Lona, Ana Lilia Torres-Machorro, Frankie R Gonzales, Lorraine Pillus, Gentry N Patrick
The ubiquitin proteasome system (UPS) is a highly conserved and tightly regulated biochemical pathway that degrades the majority of proteins in eukaryotic cells. Importantly, the UPS is responsible for counteracting altered protein homeostasis induced by a variety of proteotoxic stresses. We previously reported that Rpt6, the ATPase subunit of the 19S regulatory particle (RP) of the 26S proteasome, is phosphorylated in mammalian neurons at serine 120 in response to neuronal activity. Furthermore, we found that Rpt6 S120 phosphorylation, which regulates the activity and distribution of proteasomes in neurons, is relevant for proteasome-dependent synaptic remodeling and function...
2017: PloS One
https://www.readbyqxmd.com/read/28653853/post-translational-modifications-ptms-identified-on-endogenous-huntingtin-cluster-within-proteolytic-domains-between-heat-repeats
#20
Tamara Ratovitski, Robert N O'Meally, Mali Jiang, Raghothama Chaerkady, Ekaterine Chighladze, Jacqueline C Stewart, Xiaofang Wang, Nicolas Arbez, Elaine Roby, Athanasios Alexandris, Wenzhen Duan, Ravi Vijayvargia, Ihn Sik Seong, Daniel J Lavery, Robert N Cole, Christopher A Ross
Post-translational modifications (PTMs) of proteins regulate various cellular processes. PTMs of polyglutamine-expanded huntingtin (Htt) protein, which causes Huntington's disease (HD), are likely modulators of HD pathogenesis. Previous studies have identified and characterized several PTMs on exogenously expressed Htt fragments, but none of them were designed to systematically characterize PTMs on the endogenous full-length Htt protein. We found that full-length endogenous Htt, which was immunoprecipitated from HD knock-in mouse and human post-mortem brain, is suitable for detection of PTMs by mass spectrometry...
July 3, 2017: Journal of Proteome Research
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