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https://www.readbyqxmd.com/read/29244714/identification-of-novel-human-nk-cell-progenitor-subsets
#1
Priyanka Sathe, Swee Heng Milon Pang, Rebecca Delconte, Ngaire Elwood, Nicholas D Huntington
Understanding the pathways and regulation of human haematopoiesis, in particular, lymphopoiesis, is vital to manipulation of these processes for therapeutic purposes. However, although haematopoiesis has been extensively characterised in mice, translation of these findings to human biology remains rudimentary. Here, we describe the isolation of three progenitor subsets from human foetal bone marrow that represent differential stages of commitment to the natural killer (NK) cell lineage based on IL-15 responsiveness...
December 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29242004/point-of-care-devices-using-disease-biomarkers-to-diagnose-neurodegenerative-disorders
#2
REVIEW
Ting-Yen Wei, Yun Fu, Kuo-Hsuan Chang, Kun-Ju Lin, Yu-Jen Lu, Chao-Min Cheng
Neurodegenerative disorders such as Alzheimer's, Parkinson's, and Huntington's diseases are highly prevalent and immensely destructive to the health and well-being of individuals and their families across the globe. Neurodegenerative diseases are characterized by the gradual loss of neural tissue in the central nervous system. Clearly, early diagnosis of the onset of neurodegeneration is vital and beneficial. Current diagnostic methods rely heavily on symptoms or autopsy results, thus overlooking early diagnosis, the only opportunity for amelioration...
December 11, 2017: Trends in Biotechnology
https://www.readbyqxmd.com/read/29240886/pope-francis-champions-huntington-s-disease
#3
Nancy S Wexler
No abstract text is available yet for this article.
December 12, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29240846/characterization-of-conditions-and-determination-of-practical-tips-for-mtdna-level-estimation-in-various-human-cells
#4
Paulina Jędrak, Natalia Sowa, Sylwia Barańska, Grzegorz Węgrzyn
Determination of mtDNA copy number in the cell is crucial to understand many cellular processes. Recently, the number of studies with the use of mitochondrial DNA (mtDNA) content as the determinant of mitochondrial abnormalities increased greatly and is still growing, therefore, optimization of technical conditions for this analysis is crucial. Despite using similar laboratory protocols, some results cannot be compared between research centers, thus causing discrepancies in the assessment of mtDNA content. The aim of this work was to test which conditions of biological sample collection and storage affect estimation of mtDNA level relative to the nuclear DNA (nDNA) in the blood samples and dermal fibroblasts...
December 15, 2017: Acta Biochimica Polonica
https://www.readbyqxmd.com/read/29239314/taking-out-the-garbage-cathepsin-d-and-calcineurin-in-neurodegeneration
#5
REVIEW
Andreas Aufschnaiter, Verena Kohler, Sabrina Büttner
Cellular homeostasis requires a tightly controlled balance between protein synthesis, folding and degradation. Especially long-lived, post-mitotic cells such as neurons depend on an efficient proteostasis system to maintain cellular health over decades. Thus, a functional decline of processes contributing to protein degradation such as autophagy and general lysosomal proteolytic capacity is connected to several age-associated neurodegenerative disorders, including Parkinson's, Alzheimer's and Huntington's diseases...
November 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/29239063/stimulating-neural-plasticity-with-real-time-fmri-neurofeedback-in-huntington-s-disease-a-proof-of-concept-study
#6
Marina Papoutsi, Nikolaus Weiskopf, Douglas Langbehn, Ralf Reilmann, Geraint Rees, Sarah J Tabrizi
Novel methods that stimulate neuroplasticity are increasingly being studied to treat neurological and psychiatric conditions. We sought to determine whether real-time fMRI neurofeedback training is feasible in Huntington's disease (HD), and assess any factors that contribute to its effectiveness. In this proof-of-concept study, we used this technique to train 10 patients with HD to volitionally regulate the activity of their supplementary motor area (SMA). We collected detailed behavioral and neuroimaging data before and after training to examine changes of brain function and structure, and cognitive and motor performance...
December 13, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/29234268/the-evidence-for-the-spread-and-seeding-capacities-of-the-mutant-huntingtin-protein-in-in-vitro-systems-and-their-therapeutic-implications
#7
REVIEW
Maria Masnata, Francesca Cicchetti
Neurodegenerative disorders are not only characterized by specific patterns of cell loss but the presence and accumulation of various pathological proteins-both of which correlate with disease evolution. There is now mounting evidence to suggest that these pathological proteins present with toxic, at times prion-like, properties and can therefore seed pathology in neighboring as well remotely connected healthy neurons as they spread across the brain. What is less clear, at this stage, is how much this actually contributes to, and drives, the core pathogenic events...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29233555/human-neural-stem-cell-transplantation-rescues-functional-deficits-in-r6-2-and-q140-huntington-s-disease-mice
#8
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
#9
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
https://www.readbyqxmd.com/read/29229998/guidelines-on-experimental-methods-to-assess-mitochondrial-dysfunction-in-cellular-models-of-neurodegenerative-diseases
#10
REVIEW
Niamh M C Connolly, Pierre Theurey, Vera Adam-Vizi, Nicolas G Bazan, Paolo Bernardi, Juan P Bolaños, Carsten Culmsee, Valina L Dawson, Mohanish Deshmukh, Michael R Duchen, Heiko Düssmann, Gary Fiskum, Maria F Galindo, Giles E Hardingham, J Marie Hardwick, Mika B Jekabsons, Elizabeth A Jonas, Joaquin Jordán, Stuart A Lipton, Giovanni Manfredi, Mark P Mattson, BethAnn McLaughlin, Axel Methner, Anne N Murphy, Michael P Murphy, David G Nicholls, Brian M Polster, Tullio Pozzan, Rosario Rizzuto, Jorgina Satrústegui, Ruth S Slack, Raymond A Swanson, Russell H Swerdlow, Yvonne Will, Zheng Ying, Alvin Joselin, Anna Gioran, Catarina Moreira Pinho, Orla Watters, Manuela Salvucci, Irene Llorente-Folch, David S Park, Daniele Bano, Maria Ankarcrona, Paola Pizzo, Jochen H M Prehn
Neurodegenerative diseases are a spectrum of chronic, debilitating disorders characterised by the progressive degeneration and death of neurons. Mitochondrial dysfunction has been implicated in most neurodegenerative diseases, but in many instances it is unclear whether such dysfunction is a cause or an effect of the underlying pathology, and whether it represents a viable therapeutic target. It is therefore imperative to utilise and optimise cellular models and experimental techniques appropriate to determine the contribution of mitochondrial dysfunction to neurodegenerative disease phenotypes...
December 11, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/29229845/brain-urea-increase-is-an-early-huntington-s-disease-pathogenic-event-observed-in-a-prodromal-transgenic-sheep-model-and-hd-cases
#11
Renee R Handley, Suzanne J Reid, Rudiger Brauning, Paul Maclean, Emily R Mears, Imche Fourie, Stefano Patassini, Garth J S Cooper, Skye R Rudiger, Clive J McLaughlan, Paul J Verma, James F Gusella, Marcy E MacDonald, Henry J Waldvogel, C Simon Bawden, Richard L M Faull, Russell G Snell
The neurodegenerative disorder Huntington's disease (HD) is typically characterized by extensive loss of striatal neurons and the midlife onset of debilitating and progressive chorea, dementia, and psychological disturbance. HD is caused by a CAG repeat expansion in the Huntingtin (HTT) gene, translating to an elongated glutamine tract in the huntingtin protein. The pathogenic mechanism resulting in cell dysfunction and death beyond the causative mutation is not well defined. To further delineate the early molecular events in HD, we performed RNA-sequencing (RNA-seq) on striatal tissue from a cohort of 5-y-old OVT73-line sheep expressing a human CAG-expansion HTT cDNA transgene...
December 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29229601/a2ar-adenosine-signaling-suppresses-natural-killer-cell-maturation-in-the-tumor-microenvironment
#12
Arabella Young, Shin Foong Ngiow, Yulong Gao, Ann-Marie Patch, Deborah S Barkauskas, Meriem Messaoudene, Gene Lin, Jerome David Coudert, Kimberley A Stannard, Laurence Zitvogel, Mariapia A Degli-Esposti, Eric Vivier, Nicola Waddell, Joel Linden, Nicholas D Huntington, Fernando Souza-Fonseca Guimaraes, Mark J Smyth
Extracellular adenosine is a key immunosuppressive metabolite that restricts activation of cytotoxic lymphocytes and impairs anti-tumor immune responses. Here, we show that engagement of A2A adenosine receptor (A2AR) acts as a checkpoint that limits the maturation of natural killer (NK) cells. Both global and NK cell-specific conditional deletion of A2AR enhanced proportions of terminally mature NK cells at homeostasis, following reconstitution, and in the tumor microenvironment. Notably, A2AR-deficient, terminally mature NK cells retained proliferative capacity and exhibited heightened reconstitution in competitive transfer assays...
December 11, 2017: Cancer Research
https://www.readbyqxmd.com/read/29228015/development-of-an-iron-selective-antioxidant-probe-with-protective-effects-on-neuronal-function
#13
Olimpo García-Beltrán, Natalia P Mena, Pabla Aguirre, Germán Barriga-González, Antonio Galdámez, Edgar Nagles, Tatiana Adasme, Cecilia Hidalgo, Marco T Núñez
Iron accumulation, oxidative stress and calcium signaling dysregulation are common pathognomonic signs of several neurodegenerative diseases, including Parkinson´s and Alzheimer's diseases, Friedreich ataxia and Huntington's disease. Given their therapeutic potential, the identification of multifunctional compounds that suppress these damaging features is highly desirable. Here, we report the synthesis and characterization of N-(1,3-dihydroxy-2-(hydroxymethyl)propan-2-yl)-2-(7-hydroxy-2-oxo-2H-chromen-4-yl)acetamide, named CT51, which exhibited potent free radical neutralizing activity both in vitro and in cells...
2017: PloS One
https://www.readbyqxmd.com/read/29226728/the-efficacy-and-safety-of-riluzole-for-neurodegenerative-movement-disorders-a-systematic-review-with-meta-analysis
#14
Jia Liu, Lu-Ning Wang
Neurodegenerative movement disorders mainly include Parkinson's disease, atypical parkinsonisms, Huntington disease, and hereditary ataxia. Riluzole is the only drug approved by the US Food and Drug Administration for amyotrophic lateral sclerosis. The neuroprotective effects of riluzole have been observed in experimental models of neurodegenerative movement disorders. In this paper, we aimed to systematically analyze the efficacy and safety of riluzole for patients with neurodegenerative movement disorder...
November 2018: Drug Delivery
https://www.readbyqxmd.com/read/29226019/absence-of-acanthocytosis-in-huntington-s-disease-like-2-a-prospective-comparison-with-huntington-s-disease
#15
David G Anderson, Sergio Carmona, Kubendran Naidoo, Theresa L Coetzer, Jonathan Carr, Dobrila D Rudnicki, Ruth H Walker, Russell L Margolis, Amanda Krause
Background: Huntington's Disease-like 2 (HDL2) is classified as a neuroacanthocytosis; however, this remains unverified. We aim to determine if acanthocytes are present in HDL2 and whether acanthocytes can differentiate HDL2 from Huntington's disease (HD). Methods: We prospectively compared 13 HD and 12 HDL2 cases against 21 unaffected controls in Johannesburg. Blood smears were prepared using international standards and reviewed by at least two blinded reviewers...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29225330/huntingtin-gene-repeat-size-variations-affect-risk-of-lifetime-depression
#16
REVIEW
Sarah L Gardiner, Martine J van Belzen, Merel W Boogaard, Willeke M C van Roon-Mom, Maarten P Rozing, Albert M van Hemert, Johannes H Smit, Aartjan T F Beekman, Gerard van Grootheest, Robert A Schoevers, Richard C Oude Voshaar, Raymund A C Roos, Hannie C Comijs, Brenda W J H Penninx, Roos C van der Mast, N Ahmad Aziz
Huntington disease (HD) is a severe neuropsychiatric disorder caused by a cytosine-adenine-guanine (CAG) repeat expansion in the HTT gene. Although HD is frequently complicated by depression, it is still unknown to what extent common HTT CAG repeat size variations in the normal range could affect depression risk in the general population. Using binary logistic regression, we assessed the association between HTT CAG repeat size and depression risk in two well-characterized Dutch cohorts─the Netherlands Study of Depression and Anxiety and the Netherlands Study of Depression in Older Persons─including 2165 depressed and 1058 non-depressed persons...
December 11, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/29225013/succinate-dehydrogenase-prospect-for-neurodegenerative-diseases
#17
REVIEW
Mohammad Jodeiri Farshbaf, Abbas Kiani-Esfahani
Onset of Alzheimer's, Parkinson's and Huntington's diseases as neurodegenerative disorders is increased by age. Alleviation of clinical symptoms and protection of neurons against degeneration are the main aspects of researches to establish new therapeutic strategies. Many studies have shown that mitochondria play crucial roles in high energy demand tissues like brain. Impairments in mitochondrial activity and physiology can makes neurons vulnerable to stress and degeneration. Succinate dehydrogenase (SDH) connects tricarboxylic cycle to the electron transport chain...
December 7, 2017: Mitochondrion
https://www.readbyqxmd.com/read/29224028/atp-binding-cassette-subfamily-a-member-2-abca2-expression-and-methylation-are-associated-with-alzheimer-s-disease
#18
Wanhua Hu, Xiaodong Lin, Huihe Zhang, Na Zhao
BACKGROUND ABCA2 has been genetically linked to Alzheimer's disease (AD) risk, but its mRNA expression and epigenetics in AD have not been investigated. MATERIAL AND METHODS To explore the diagnosis value of ABCA2 mRNA expression in AD, 2 datasets GES15222 and GSE33000 containing expression profile of brain cortex tissues and 2 datasets GSE63063 (Cohort 1) and GSE63063 (Cohort 2) containing expression profile of blood were downloaded from the NCBI GEO database and analyzed by receiver operating characteristic curve (ROC) analyses and logistic regression...
December 10, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29222609/evaluating-cognition-in-individuals-with-huntington-disease-neuro-qol-cognitive-functioning-measures
#19
Jin-Shei Lai, Siera Goodnight, Nancy R Downing, Rebecca E Ready, Jane S Paulsen, Anna L Kratz, Julie C Stout, Michael K McCormack, David Cella, Christopher Ross, Jenna Russell, Noelle E Carlozzi
PURPOSE: Cognitive functioning impacts health-related quality of life (HRQOL) for individuals with Huntington disease (HD). The Neuro-QoL includes two patient-reported outcome (PRO) measures of cognition-Executive Function (EF) and General Concerns (GC). These measures have not previously been validated for use in HD. The purpose of this analysis is to evaluate the reliability and validity of the Neuro-QoL Cognitive Function measures for use in HD. METHODS: Five hundred ten individuals with prodromal or manifest HD completed the Neuro-QoL Cognition measures, two other PRO measures of HRQOL (WHODAS 2...
December 8, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/29218782/therapy-development-in-huntington-disease-from-current-strategies-to-emerging-opportunities
#20
REVIEW
Audrey S Dickey, Albert R La Spada
Huntington disease (HD) is a progressive autosomal dominant neurodegenerative disorder in which patients typically present with uncontrolled involuntary movements and subsequent cognitive decline. In 1993, a CAG trinucleotide repeat expansion in the coding region of the huntingtin (HTT) gene was identified as the cause of this disorder. This extended CAG repeat results in production of HTT protein with an expanded polyglutamine tract, leading to pathogenic HTT protein conformers that are resistant to protein turnover, culminating in cellular toxicity and neurodegeneration...
December 8, 2017: American Journal of Medical Genetics. Part A
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