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https://www.readbyqxmd.com/read/29342448/generation-of-induced-pluripotent-stem-cell-line-cssi002-a-2851-from-a-patient-with-juvenile-huntington-disease
#1
Jessica Rosati, Eris Bidollari, Giovannina Rotundo, Daniela Ferrari, Barbara Torres, Laura Bernardini, Federica Consoli, Alessandro De Luca, Iolanda Santimone, Giuseppe Lamorte, Ferdinando Squitieri, Angelo Luigi Vescovi
Huntington Disease (HD) is an autosomal dominant disorder characterized by motor, cognitive and behavioral features caused by a CAG expansion in the HTT gene beyond 35 repeats. The juvenile form (JHD) may begin before the age of 20years and is associated with expanded alleles as long as 60 or more CAG repeats. In this study, induced pluripotent stem cells were generated from skin fibroblasts of a 8-year-old child carrying a large size mutation of 84 CAG repeats in the HTT gene. HD appeared at age 3 with mixed psychiatric (i...
January 9, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29341886/regulation-of-hsf1-protein-stabilization-an-updated-review
#2
REVIEW
Chao Huang, Jingjing Wu, Li Xu, Jili Wang, Zhuo Chen, Rongrong Yang
Heat shock factor 1 (HSF1) is a transcriptional factor that determines the efficiency of heat shock responses (HSRs) in the cell. Given its function has been extensively studied in recent years, HSF1 is considered a potential target for the treatment of disorders associated with protein aggregation. The activity of HSF1 is traditionally regulated at the transcriptional level in which the transactivation domain of HSF1 is modified by extensive array of pos-translational modifications, such as phosphorylation, sumoylation, and acetylation...
January 13, 2018: European Journal of Pharmacology
https://www.readbyqxmd.com/read/29328442/identification-of-differentially-expressed-genes-and-regulatory-relationships-in-huntington-s-disease-by-bioinformatics-analysis
#3
Xiaoyu Dong, Shuyan Cong
Huntington's disease (HD) is an inherited, progressive neurodegenerative disease caused by a CAG expansion in the huntingtin (HTT) gene; various dysfunctions of biological processes in HD have been proposed. However, at present the exact pathogenesis of HD is not fully understood. The present study aimed to explore the pathogenesis of HD using a computational bioinformatics analysis of gene expression. GSE11358 was downloaded from the Gene Expression Omnibus andthe differentially expressed genes (DEGs) in the mutant HTT knock‑in cell model STHdhQ111/Q111 were predicted...
January 9, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29322921/tensor-decomposition-based-unsupervised-feature-extraction-identifies-candidate-genes-that-induce-post-traumatic-stress-disorder-mediated-heart-diseases
#4
Y-H Taguchi
BACKGROUND: Although post-traumatic stress disorder (PTSD) is primarily a mental disorder, it can cause additional symptoms that do not seem to be directly related to the central nervous system, which PTSD is assumed to directly affect. PTSD-mediated heart diseases are some of such secondary disorders. In spite of the significant correlations between PTSD and heart diseases, spatial separation between the heart and brain (where PTSD is primarily active) prevents researchers from elucidating the mechanisms that bridge the two disorders...
December 21, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/29315358/htt-db-new-features-and-updates
#5
Bruno Reis Dotto, Evelise Leis Carvalho, Alexandre Freitas da Silva, Filipe Zimmer Dezordi, Paulo Marcos Pinto, Tulio de Lima Campos, Antonio Mauro Rezende, Gabriel da Luz Wallau
Horizontal Transfer (HT) of genetic material between species is a common phenomenon among Bacteria and Archaea species and several databases are available for information retrieval and data mining. However, little attention has been given to this phenomenon among eukaryotic species mainly due to the lower proportion of these events. In the last years, a vertiginous amount of new HT events involving eukaryotic species was reported in the literature, highlighting the need of a common repository to keep the scientific community up to date and describe overall trends...
January 1, 2018: Database: the Journal of Biological Databases and Curation
https://www.readbyqxmd.com/read/29313869/negative-social-acts-and-pain-evidence-of-a-workplace-bullying-and-5-htt-genotype-interaction
#6
Daniel Pitz Jacobsen, Morten Birkeland Nielsen, Ståle Einarsen, Johannes Gjerstad
Objectives Long-term exposure to systematic negative acts at work, usually labeled workplace bullying, is a prevalent problem at many workplaces. The adverse effects of such exposure may range from psychological symptoms, such as depression and anxiety to somatic ailments like cardiovascular disease and musculoskeletal complaints. In this study, we examined the relationships among exposure to negative acts, genetic variability in the 5-HTT gene SLC6A4 and pain. Methods The study was based on a nationally representative survey of 987 Norwegian employees drawn from the Norwegian Central Employee Register by Statistics Norway...
January 9, 2018: Scandinavian Journal of Work, Environment & Health
https://www.readbyqxmd.com/read/29302199/cell-to-cell-transmission-of-polyglutamine-aggregates-in-c-elegans
#7
Dong-Kyu Kim, Kyu-Won Cho, Woo Jung Ahn, Dayana Perez-Acuña, Hyunsu Jeong, He-Jin Lee, Seung-Jae Lee
Huntington disease (HD) is an inherited neurodegenerative disorder characterized by motor and cognitive dysfunction caused by expansion of polyglutamine (polyQ) repeat in exon 1 of huntingtin (HTT). In patients, the number of glutamine residues in polyQ tracts are over 35, and it is correlated with age of onset, severity, and disease progression. Expansion of polyQ increases the propensity for HTT protein aggregation, process known to be implicated in neurodegeneration. These pathological aggregates can be transmitted from neuron to another neuron, and this process may explain the pathological spreading of polyQ aggregates...
December 2017: Experimental Neurobiology
https://www.readbyqxmd.com/read/29296268/association-of-serotonin-transporter-gene-polymorphism-with-recurrent-aphthous-stomatitis
#8
Shamsolmolouk Najafi, Mahsa Mohammadzadeh, Amirabbas Zahedi, Mansour Heidari, Nima Rezaei
Background: Recurrent Aphthous Stomatitis (RAS) is one of the most common diseases of the oral cavity all over the world (5-66%). RAS has a multifactorial etiology, while psychological factors such as stress and anger play a role in its manifestation. The serotonergic mechanisms particularly the serotonin-transporter gene (5-HTT) may affect the risk of psychological alterations and stress response. The aim of the present study was to evaluate the polymorphism of the promoter region of 5-HTT (5-HTTLPR) in the patients with RAS, compared to that in the control subjects...
January 2018: Avicenna Journal of Medical Biotechnology
https://www.readbyqxmd.com/read/29283188/analyzing-horizontal-transfer-of-transposable-elements-on-a-large-scale-challenges-and-prospects
#9
Jean Peccoud, Richard Cordaux, Clément Gilbert
Whoever compares the genomes of distantly related species might find aberrantly high sequence similarity at certain loci. Such anomaly can only be explained by genetic material being transferred through other means than reproduction, that is, a horizontal transfer (HT). Between multicellular organisms, the transferred material will likely turn out to be a transposable element (TE). Because TEs can move between loci and invade chromosomes by replicating themselves, HT of TEs (HTT) profoundly impacts genome evolution...
December 28, 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/29282287/the-17-residue-long-n-terminus-in-huntingtin-controls-step-wise-aggregation-in-solution-and-on-membranes-via-different-mechanisms
#10
Nitin K Pandey, J Mario Isas, Anoop Rawat, Rachel V Lee, Jennifer Langen, Priyatama Pandey, Ralf Langen
Aggregation of huntingtin protein arising from expanded polyglutamine (polyQ) sequences in the exon-1 region of mutant huntingtin plays a central role in the pathogenesis of Huntington's disease. The huntingtin aggregation pathways are of therapeutic and diagnostic interest, but obtaining critical information from the physiologically relevant htt exon-1 (Httex1) protein has been challenging. Using biophysical techniques and an expression and purification protocol that generates clean, monomeric Httex1, we identified and mapped three distinct aggregation pathways: (1) unseeded in solution, (2) seeded in solution, and (3) membrane-mediated...
December 27, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29281014/systematic-genetic-interaction-studies-identify-histone-demethylase-utx-as-potential-target-for-ameliorating-huntington-s-disease
#11
Wan Song, Nóra Zsindely, Anikó Faragó, J Lawrence Marsh, László Bodai
Huntington's Disease (HD) is a dominantly inherited neurodegenerative disease caused by alterations in the huntingtin gene (htt). Transcriptional dysregulation is an early event in HD progression. Protein acetylation and methylation particularly on histones regulates chromatin structure thereby preventing or facilitating transcription. Although protein acetylation has been found to affect HD symptoms, little is known about the potential role of protein methylation in HD pathology. In recent years, a series of proteins have been described that are responsible for methylating and demethylating histones as well as other proteins...
December 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29274742/effect-of-early-embryonic-deletion-of-huntingtin-from-pyramidal-neurons-on-the-development-and-long-term-survival-of-neurons-in-cerebral-cortex-and-striatum
#12
I Dragatsis, P Dietrich, H Ren, Y P Deng, N Del Mar, H B Wang, I M Johnson, K R Jones, A Reiner
We evaluated the impact of early embryonic deletion of huntingtin (htt) from pyramidal neurons on cortical development, cortical neuron survival and motor behavior, using a cre-loxP strategy to inactivate the mouse htt gene (Hdh) in emx1-expressing cell lineages. Western blot confirmed substantial htt reduction in cerebral cortex of these Emx-httKO mice, with residual cortical htt in all likelihood restricted to cortical interneurons of the subpallial lineage and/or vascular endothelial cells. Despite the loss of htt early in development, cortical lamination was normal, as revealed by layer-specific markers...
December 21, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/29274166/rapid-screening-of-inorganic-and-organic-anions-in-liquid-by-products-from-hydrothermal-treatment-of-biomass-by-capillary-electrophoresis
#13
Nobutake Nakatani, Alexander Mosqueda, Joan Marc Cabot, Estrella Sanz Rodriguez, Kunio Yoshikawa, Brett Paull
A simple and rapid capillary electrophoresis method with capacitively coupled contactless conductivity detection (CE-C4 D) for the simultaneous determination of inorganic and organic anions in liquid product obtained from the hydrothermal treatment of biomass residues is presented. Under the optimal analytical conditions, limits of detection ranged from 1.8 to 9.4 μM for most target solutes and 53 μM for citrate. Relative standard deviations were below 0.5% for migration times and within 0.6-6.5% for peak areas for all solutes...
December 23, 2017: Electrophoresis
https://www.readbyqxmd.com/read/29261001/regulation-of-autophagic-proteolysis-by-the-n-recognin-sqstm1-p62-of-the-n-end-rule-pathway
#14
Hyunjoo Cha-Molstad, Su Hyun Lee, Jung Gi Kim, Ki Woon Sung, Joonsung Hwang, Sang Mi Shim, Srinivasrao Ganipisetti, Terry McGuire, Inhee Mook-Jung, Aaron Ciechanover, Xiang-Qun Xie, Bo Yeon Kim, Yong Tae Kwon
In macroautophagy/autophagy, cargoes are collected by specific receptors, such as SQSTM1/p62 (sequestosome 1), and delivered to phagophores for lysosomal degradation. To date, little is known about how cells modulate SQSTM1 activity and autophagosome biogenesis in response to accumulating cargoes. In this study, we show that SQSTM1 is an N-recognin whose ZZ domain binds N-terminal arginine (Nt-Arg) and other N-degrons (Nt-Lys, Nt-His, Nt-Trp, Nt-Phe, and Nt-Tyr) of the N-end rule pathway. The substrates of SQSTM1 include the endoplasmic reticulum (ER)-residing chaperone HSPA5/GRP78/BiP...
December 20, 2017: Autophagy
https://www.readbyqxmd.com/read/29259100/mglur5-antagonism-increases-autophagy-and-prevents-disease-progression-in-the-zq175-mouse-model-of-huntington-s-disease
#15
Khaled S Abd-Elrahman, Alison Hamilton, Shaunessy R Hutchinson, Fang Liu, Ryan C Russell, Stephen S G Ferguson
Huntington's disease (HD) is a neurodegenerative disease caused by an expansion in the huntingtin protein (also called Htt) that induces neuronal cell death with age. We found that the treatment of 12-month-old symptomatic heterozygous and homozygous zQ175 huntingtin knockin mice for 12 weeks with CTEP, a negative allosteric modulator of metabotropic glutamate receptor 5 (mGluR5), reduced the size and number of huntingtin aggregates, attenuated caspase-3 activity, and reduced both neuronal apoptosis and neuronal loss in brain tissue...
December 19, 2017: Science Signaling
https://www.readbyqxmd.com/read/29258536/down-regulation-of-mir-9-in-the-peripheral-leukocytes-of-huntington-s-disease-patients
#16
Kuo-Hsuan Chang, Yih-Ru Wu, Chiung-Mei Chen
BACKGROUND: Huntington's disease (HD), caused by expansion of a polyglutamine tract within HUNTINGTIN (HTT) protein, is an autosomal dominant neurodegenerative disease associated with a progressive neurodegeneration of striatum and cerebral cortex. Although a few studies have identified substantial microRNA (miRNA) alterations in central nervous tissues from HD patients, it will be more accessible to employ these molecular changes in peripheral tissues as biomarkers for HD. METHODS: We examined the expression levels of 13 miRNAs (miR-1, mirR-9, miR-9*, miR-10b, miR-29a, miR-29b, miR-124a, miR-132, miR-155, miR-196a, miR-196b, miR-330 and miR-615), 10 of which previously demonstrated alterations and 3 of which are potential regulators of differentially-expressed genes in brains of HD patients, in the peripheral leukocytes of 36 HD patients, 8 pre-symptomatic HD carriers and 28 healthy controls...
December 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29249939/co-expression-patterns-between-atn1-and-atxn2-coincide-with-brain-regions-affected-in-huntington-s-disease
#17
Arlin Keo, N Ahmad Aziz, Oleh Dzyubachyk, Jeroen van der Grond, Willeke M C van Roon-Mom, Boudewijn P F Lelieveldt, Marcel J T Reinders, Ahmed Mahfouz
Cytosine-adenine-guanine (CAG) repeat expansions in the coding regions of nine polyglutamine (polyQ) genes (HTT, ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATN1, AR, and TBP) are the cause of several neurodegenerative diseases including Huntington's disease (HD), six different spinocerebellar ataxias (SCAs), dentatorubral-pallidoluysian atrophy, and spinobulbar muscular atrophy. The expanded CAG repeat length in the causative gene is negatively related to the age-at-onset (AAO) of clinical symptoms. In addition to the expanded CAG repeat length in the causative gene, the normal CAG repeats in the other polyQ genes can affect the AAO, suggesting functional interactions between the polyQ genes...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29233642/acute-inescapable-stress-alleviates-fear-extinction-recall-deficits-caused-by-serotonin-transporter-abolishment
#18
Pieter Schipper, Marloes J A G Henckens, Dora Lopresto, Tamas Kozicz, Judith R Homberg
Life stress increases risk for developing post-traumatic stress disorder (PTSD), and more prominently so in short-allele carriers of the serotonin transporter linked polymorphic region (5-HTTLPR). Serotonin transporter knockout (5-HTT-/-) rats show compromised extinction (recall) of conditioned fear, which might mediate the increased risk for PTSD and reduce the therapeutic efficacy of exposure therapy. Here, we assessed whether acute inescapable stress (IS) differentially affects fear extinction and extinction recall in 5-HTT-/- rats and wildtype controls...
December 9, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/29233555/human-neural-stem-cell-transplantation-rescues-functional-deficits-in-r6-2-and-q140-huntington-s-disease-mice
#19
Jack C Reidling, Aroa Relaño-Ginés, Sandra M Holley, Joseph Ochaba, Cindy Moore, Brian Fury, Alice Lau, Andrew H Tran, Sylvia Yeung, Delaram Salamati, Chunni Zhu, Asa Hatami, Carlos Cepeda, Joshua A Barry, Talia Kamdjou, Alvin King, Dane Coleal-Bergum, Nicholas R Franich, Frank M LaFerla, Joan S Steffan, Mathew Blurton-Jones, Charles K Meshul, Gerhard Bauer, Michael S Levine, Marie-Francoise Chesselet, Leslie M Thompson
Huntington's disease (HD) is an inherited neurodegenerative disorder with no disease-modifying treatment. Expansion of the glutamine-encoding repeat in the Huntingtin (HTT) gene causes broad effects that are a challenge for single treatment strategies. Strategies based on human stem cells offer a promising option. We evaluated efficacy of transplanting a good manufacturing practice (GMP)-grade human embryonic stem cell-derived neural stem cell (hNSC) line into striatum of HD modeled mice. In HD fragment model R6/2 mice, transplants improve motor deficits, rescue synaptic alterations, and are contacted by nerve terminals from mouse cells...
December 6, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/29232946/huntingtin-polyglutamine-dependent-protein-aggregation-in-reconstituted-cells
#20
Kodai Machida, Kuru Kanzawa, Tomoaki Shigeta, Yuki Yamamoto, Kanta Tsumoto, Hiroaki Imataka
One of the aims of synthetic biology is bottom-up construction of reconstituted human cells for medical uses. To that end, we generated giant unilamella vesicles (GUVs) that contained a HeLa cell extract, which comprises a cell-free protein synthesis (CFPS) system. Then we expressed Huntingtin protein fragments that contained polyglutamine (polyQ) sequences (Htt-polyQ), a hallmark of Huntington's disease. That system produced polyQ-dependent protein aggregates, as previously demonstrated in living cells. We next simplified the system by generating GUVs that contained purified human factors, which reconstituted a CFPS system...
December 12, 2017: ACS Synthetic Biology
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