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https://www.readbyqxmd.com/read/28096245/prion-like-characteristics-of-polyglutamine-containing-proteins
#1
Margaret M P Pearce, Ron R Kopito
Transmissible spongiform encephalopathies are infectious neurodegenerative diseases caused by the conversion of prion protein (PrP) into a self-replicating conformation that spreads via templated conversion of natively folded PrP molecules within or between cells. Recent studies provide compelling evidence that prion-like behavior is a general property of most protein aggregates associated with neurodegenerative diseases. Many of these disorders are associated with spontaneous protein aggregation, but genetic mutations can increase the aggregation propensity of specific proteins, including expansion of polyglutamine (polyQ) tracts, which is causative of nine inherited neurodegenerative diseases...
January 17, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28095923/nadph-oxidase-in-brain-injury-and-neurodegenerative-disorders
#2
REVIEW
Merry W Ma, Jing Wang, Quanguang Zhang, Ruimin Wang, Krishnan M Dhandapani, Ratna K Vadlamudi, Darrell W Brann
Oxidative stress is a common denominator in the pathology of neurodegenerative disorders such as Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, and multiple sclerosis, as well as in ischemic and traumatic brain injury. The brain is highly vulnerable to oxidative damage due to its high metabolic demand. However, therapies attempting to scavenge free radicals have shown little success. By shifting the focus to inhibit the generation of damaging free radicals, recent studies have identified NADPH oxidase as a major contributor to disease pathology...
January 17, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28094373/conformational-dynamics-and-self-association-of-intrinsically-disordered-huntingtin-exon-1-in-cells
#3
Steffen Büning, Abhishek Sharma, Shivang Vachharajani, Estella Newcombe, Angelique Ormsby, Mimi Gao, David Gnutt, Tobias Vöpel, Danny M Hatters, Simon Ebbinghaus
Huntington's disease is caused by a CAG trinucleotide expansion mutation in the Huntingtin gene that leads to an artificially long polyglutamine sequence in the Huntingtin protein. A key feature of the disease is the intracellular aggregation of the Huntingtin exon 1 protein (Httex1) into micrometer sized inclusion bodies. The aggregation process of Httex1 has been extensively studied in vitro, however, the crucial early events of nucleation and aggregation in the cell remain elusive. Here, we studied the conformational dynamics and self-association of Httex1 by in-cell experiments using laser-induced temperature jumps and analytical ultracentrifugation...
January 17, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28093515/author-response-huntington-disease-reduced-penetrance-alleles-occur-at-high-frequency-in-the-general-population
#4
Michael R Hayden, Chris Kay
No abstract text is available yet for this article.
January 17, 2017: Neurology
https://www.readbyqxmd.com/read/28093514/letter-re-huntington-disease-reduced-penetrance-alleles-occur-at-high-frequency-in-the-general-population
#5
Joseph Jankovic, Ferdinando Squitieri
No abstract text is available yet for this article.
January 17, 2017: Neurology
https://www.readbyqxmd.com/read/28090246/bayesian-covariate-selection-in-mixed-effects-models-for-longitudinal-shape-analysis
#6
Prasanna Muralidharan, James Fishbaugh, Eun Young Kim, Hans J Johnson, Jane S Paulsen, Guido Gerig, P Thomas Fletcher
The goal of longitudinal shape analysis is to understand how anatomical shape changes over time, in response to biological processes, including growth, aging, or disease. In many imaging studies, it is also critical to understand how these shape changes are affected by other factors, such as sex, disease diagnosis, IQ, etc. Current approaches to longitudinal shape analysis have focused on modeling age-related shape changes, but have not included the ability to handle covariates. In this paper, we present a novel Bayesian mixed-effects shape model that incorporates simultaneous relationships between longitudinal shape data and multiple predictors or covariates to the model...
April 2016: Proceedings of the IEEE International Symposium on Biomedical Imaging: from Nano to Macro
https://www.readbyqxmd.com/read/28088536/targeting-sonic-hedgehog-signaling-in-neurological-disorders
#7
REVIEW
Sita Sharan Patel, Sunil Tomar, Diksha Sharma, Neeraj Mahindroo, Malairaman Udayabanu
Sonic hedgehog (Shh) signaling influences neurogenesis and neural patterning during the development of central nervous system. Dysregulation of Shh signaling in brain leads to neurological disorders like autism spectrum disorder, depression, dementia, stroke, Parkinson's diseases, Huntington's disease, locomotor deficit, epilepsy, demyelinating disease, neuropathies as well as brain tumors. The synthesis, processing and transport of Shh ligand as well as the localization of its receptors and signal transduction in the central nervous system has been carefully reviewed...
January 11, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28087881/role-of-stim2-in-cell-function-and-physiopathology
#8
Alejandro Berna-Erro, Isaac Jardin, Gines M Salido, Juan A Rosado
An endoplasmic reticulum (ER)-resident protein that regulates cytosolic and ER free-Ca(2+) concentration by induction of store-operated calcium entry. That is the original definition of STIM2 and its function. While its activity strongly depends on the amount of calcium stored in the ER, its function goes further to intracellular signalling and gene expression. Initially undercovered by the prominent function of STIM1, STIM2 became to be vital in mice, gradually emerging as an important player in the nervous system, and cooperating with STIM1 in the immune system...
January 14, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28087720/a-liminal-stage-after-predictive-testing-for-huntington-disease
#9
Marcela Gargiulo, Sophie Tezenas du Montcel, Marie France Jutras, Ariane Herson, Cecile Cazeneuve, Alexandra Durr
BACKGROUND: Following predictive testing for Huntington disease (HD), knowledge of one's carrier status may have consequences on disease onset. Our study aimed to address two questions. First, does knowledge of being a carrier of the pathological HD mutation trigger onset of the disease? Second, does this knowledge influence self-awareness and allow carriers to identify signs and symptoms of disease onset? METHODS: Between 2012 and 2015, 75 HD mutation carriers were examined using the Unified Huntington's Disease Rating Scale (UHDRS) motor score...
January 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28079000/application-of-monoterpenoids-and-their-derivatives-for-treatment-of-neurodegenerative-disorders
#10
Konstantin P Volcho, Sergey S Laev, Ghulam Md Ashraf, Gjumrakch Aliev, Nariman F Salakhutdinov
Neurodegenerative disorders (NDDs) like Alzheimer disease, Parkinson's disease and Huntington's disease are a heterogeneous group of disorders with the progressive and severe loss of neurons. There are no full proof cures for these diseases, and only medicines are available that can alleviate some of the symptoms. Developing effective treatments for the NDDs is a difficult but necessary task. Hence, the investigation of monoterpenoids which modulate targets applicable to many NDDs is highly relevant. Many monoterpenoids have demonstrated promising neuroprotective activity mediated by various systems...
11, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28078767/retraction-statement-huntington-s-disease-characteristics-of-fallers-by-shannon-williams-et-al
#11
(no author information available yet)
No abstract text is available yet for this article.
January 2017: Physiotherapy Research International: the Journal for Researchers and Clinicians in Physical Therapy
https://www.readbyqxmd.com/read/28073262/fluorescence-self-quenching-from-reporter-dyes-informs-on-the-structural-properties-of-amyloid-clusters-formed-in-vitro-and-in-cells
#12
WeiYue Chen, Laurence J Young, Meng Lu, Alessio Zaccone, Florian Ströhl, Na Yu, Gabriele S Kaminski Schierle, Clemens F Kaminski
The characterization of the aggregation kinetics of protein amyloids and the structural properties of the ensuing aggregates are vital in the study of the pathogenesis of many neurodegenerative diseases and the discovery of therapeutic targets. In this article, we show that the fluorescence lifetime of synthetic dyes covalently attached to amyloid proteins informs on the structural properties of amyloid clusters formed both in vitro and in cells. We demonstrate that the mechanism behind such a "lifetime sensor" of protein aggregation is based on fluorescence self-quenching and that it offers a good dynamic range to report on various stages of aggregation without significantly perturbing the process under investigation...
January 11, 2017: Nano Letters
https://www.readbyqxmd.com/read/28069792/targeting-ent1-and-adenosine-tone-for-the-treatment-of-huntington-s-disease
#13
Yu-Han Kao, Meng-Syuan Lin, Chiung-Mei Chen, Yih-Ru Wu, Hui-Mei Chen, Hsing-Lin Lai, Yijuang Chern, Chun-Jung Lin
Huntington's disease (HD) is caused by an abnormal CAG expansion in the exon 1 of huntingtin gene. The treatment of HD is an unmet medical need. Given the important role of adenosine in modulating brain activity, in this study, levels of adenosine and adenine nucleotides in the cerebral spinal fluid of patients with HD and in the brain of two mouse models of HD (R6/2 and Hdh(150Q)) were analysed. The expression and activity of ENT1 in the striatum of mice with HD were measured. Targeting adenosine tone for treating HD was examined in R6/2 mice by genetic removal of ENT1 and by giving an ENT1 inhibitor, respectively...
January 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28069435/astrocytes-and-presynaptic-plasticity-in-the-striatum-evidence-and-unanswered-questions
#14
Anton Dvorzhak, Igor Melnick, Rosemarie Grantyn
One of the main functions of astrocytes is to ensure glutamate homeostasis by glutamate uptake and glutamine synthesis. However, during the past ten years it has become clear that astrocytes may also induce changes in synaptic glutamate release when respective pathways must cope with the consequences of brain damage or other alterations in their functional requirements. The loss of glutamatergic synapses in Parkinson's and Huntington's disease is likely to associate with a continuous redistribution of presynaptic activity within the pool of surviving synapses, and astrocytes may have a role in the maintenance of independent control at individual glutamate release sites...
January 6, 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/28069034/health-related-quality-of-life-and-unmet-healthcare-needs-in-huntington-s-disease
#15
Marleen R van Walsem, Emilie I Howe, Gunvor A Ruud, Jan C Frich, Nada Andelic
BACKGROUND: Huntington's disease (HD) is a rare neurodegenerative disorder with a prevalence of 6 per 100.000. Despite increasing research activity on HD, evidence on healthcare utilization, patients' needs for healthcare services and Health-Related Quality of Life (HRQoL) is still sparse. The present study describes HRQoL in a Norwegian cohort of HD patients, and assesses associations between unmet healthcare and social support service needs and HRQoL. METHODS: In this cross-sectional population-based study, 84 patients with a clinical diagnosis of HD living in the South-East of Norway completed the HRQoL questionnaire EuroQol, EQ-5D-3L...
January 7, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28066979/when-proteostasis-goes-bad-protein-aggregation-in-the-cell
#16
REVIEW
Mona Radwan, Rebecca J Wood, Xiaojing Sui, Danny M Hatters
Protein aggregation is a hallmark of the major neurodegenerative diseases including Alzheimer's, Parkinson's, Huntington's and motor neuron and is a symptom of a breakdown in the management of proteome foldedness. Indeed, it is remarkable that under normal conditions cells can keep their proteome in a highly crowded and confined space without uncontrollable aggregation. Proteins pose a particular challenge relative to other classes of biomolecules because upon synthesis they must typically follow a complex folding pathway to reach their functional conformation (native state)...
January 9, 2017: IUBMB Life
https://www.readbyqxmd.com/read/28063940/linking-lipid-peroxidation-and-neuropsychiatric-disorders-focus-on-4-hydroxy-2-nonenal
#17
REVIEW
Adele Romano, Gaetano Serviddio, Silvio Calcagnini, Rosanna Villani, Anna Maria Giudetti, Tommaso Cassano, Silvana Gaetani
4-hydroxy-2-nonenal (HNE) is considered to be a strong marker of oxidative stress; the interaction between HNE and cellular proteins leads to the formation of HNE-protein adducts able to alter cellular homeostasis and cause the development of a pathological state. By virtue of its high lipid concentration, oxygen utilization, and the presence of metal ions participating to redox reactions, the brain is highly susceptible to the formation of free radicals and HNE-related compounds. A variety of neuropsychiatric disorders have been associated with elevations of HNE concentration...
January 4, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28062841/metal-based-superoxide-dismutase-and-catalase-mimics-reduce-oxidative-stress-biomarkers-and-extend-life-span-of-saccharomyces-cerevisiae
#18
Thales de P Ribeiro, Fernanda L Fonseca, Mariana D C de Carvalho, Rodrigo M da C Godinho, Fernando Pereira de Almeida, Tatiana D Saint'Pierre, Nicolás A Rey, Christiane Fernandes, Adolfo Horn, Marcos D Pereira
Aging is a natural process characterized by several biological changes. In this context, oxidative stress appears as a key factor that leads cells and organisms to severe dysfunctions and diseases. To cope with reactive oxygen species and oxidative-related damage, there has been increased use of superoxide dismutase (SOD)/catalase (CAT) biomimetic compounds. Recently, we have shown that three metal-based compounds {[Fe(HPClNOL)Cl2]NO3, [Cu(HPClNOL)(CH3CN)](ClO4)2 and Mn(HPClNOL)(Cl)2}, harboring in vitro SOD and/or CAT activities, were critical for protection of yeast cells against oxidative stress...
January 15, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28062223/oxidative-metabolism-and-ca-2-handling-in-striatal-mitochondria-from-yac128-mice-a-model-of-huntington-s-disease
#19
James Hamilton, Tatiana Brustovetsky, Nickolay Brustovetsky
The mechanisms implicated in the pathology of Huntington's disease (HD) remain not completely understood, although dysfunction of mitochondrial oxidative metabolism and Ca(2+) handling have been suggested as contributing factors. However, in our previous studies with mitochondria isolated from the whole brains of HD mice, we found no evidence for defects in mitochondrial respiration and Ca2+ handling. In the present study, we used the YAC128 mouse model of HD to evaluate the effect of mHtt on respiratory activity and Ca2+ uptake capacity of mitochondria isolated from the striatum, the most vulnerable brain region in HD...
January 3, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28057684/ismart-a-toolkit-for-a-comprehensive-analysis-of-small-rna-seq-data
#20
Riccardo Panero, Antonio Rinaldi, Domenico Memoli, Giovanni Nassa, Maria Ravo, Francesca Rizzo, Roberta Tarallo, Luciano Milanesi, Alessandro Weisz, Giorgio Giurato
: The interest in investigating the biological roles of small non-coding RNAs (sncRNAs) is increasing, due to the pleiotropic effects of these molecules exert in many biological contexts. While several methods and tools are available to study microRNAs (miRNAs), only few focus on novel classes of sncRNAs, in particular PIWI-interacting RNAs (piRNAs). To overcome these limitations, we implemented iSmaRT (integrative Small RNA Tool-kit), an automated pipeline to analyze smallRNA-Seq data...
January 5, 2017: Bioinformatics
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