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https://www.readbyqxmd.com/read/29027580/screening-for-amyloid-proteins-in-the-yeast-proteome
#1
Tatyana A Ryzhova, Julia V Sopova, Sergey P Zadorsky, Vera A Siniukova, Aleksandra V Sergeeva, Svetlana A Galkina, Anton A Nizhnikov, Aleksandr A Shenfeld, Kirill V Volkov, Alexey P Galkin
The search for novel pathological and functional amyloids represents one of the most important tasks of contemporary biomedicine. Formation of pathological amyloid fibrils in the aging brain causes incurable neurodegenerative disorders such as Alzheimer's, Parkinson's Huntington's diseases. At the same time, a set of amyloids regulates vital processes in archaea, prokaryotes and eukaryotes. Our knowledge of the prevalence and biological significance of amyloids is limited due to the lack of universal methods for their identification...
October 11, 2017: Current Genetics
https://www.readbyqxmd.com/read/29024655/lost-in-transportation-nucleocytoplasmic-transport-defects-in-als-and-other-neurodegenerative-diseases
#2
REVIEW
Hong Joo Kim, J Paul Taylor
Amyotrophic lateral sclerosis (ALS) is a progressive, fatal neurodegenerative disease characterized by degeneration of upper and lower motor neurons in the brain and spinal cord. The hallmark pathological feature in most cases of ALS is nuclear depletion and cytoplasmic accumulation of the protein TDP-43 in degenerating neurons. Consistent with this pattern of intracellular protein redistribution, impaired nucleocytoplasmic trafficking has emerged as a mechanism contributing to ALS pathology. Dysfunction in nucleocytoplasmic transport is also an emerging theme in physiological aging and other related neurodegenerative diseases, such as Huntington's and Alzheimer's diseases...
October 11, 2017: Neuron
https://www.readbyqxmd.com/read/29023437/22-years-of-predictive-testing-for-huntington-s-disease-the-experience-of-the-uk-huntington-s-prediction-consortium
#3
Sheharyar S Baig, Mark Strong, Elisabeth Rosser, Nicola V Taverner, Ruth Glew, Zosia Miedzybrodzka, Angus Clarke, David Craufurd
This corrects the article DOI: 10.1038/ejhg.2016.36.
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29021780/chronic-5-aminoimidazole-4-carboxamide-1-%C3%AE-d-ribofuranoside-treatment-induces-phenotypic-changes-in-skeletal-muscle-but-does-not-improve-disease-outcomes-in-the-r6-2-mouse-model-of-huntington-s-disease
#4
Marie-France Paré, Bernard J Jasmin
Huntington's disease (HD) is an autosomal dominant neurodegenerative genetic disorder characterized by motor, cognitive, and psychiatric symptoms. It is well established that regular physical activity supports brain health, benefiting cognitive function, mental health as well as brain structure and plasticity. Exercise mimetics (EMs) are a group of drugs and small molecules that target signaling pathways in skeletal muscle known to be activated by endurance exercise. The EM 5-aminoimidazole-4-carboxamide-1-β-d-ribofuranoside (AICAR) has been shown to induce cognitive benefits in healthy mice...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29020921/identify-huntington-s-disease-associated-genes-based-on-restricted-boltzmann-machine-with-rna-seq-data
#5
Xue Jiang, Han Zhang, Feng Duan, Xiongwen Quan
BACKGROUND: Predicting disease-associated genes is helpful for understanding the molecular mechanisms during the disease progression. Since the pathological mechanisms of neurodegenerative diseases are very complex, traditional statistic-based methods are not suitable for identifying key genes related to the disease development. Recent studies have shown that the computational models with deep structure can learn automatically the features of biological data, which is useful for exploring the characteristics of gene expression during the disease progression...
October 11, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/29019918/protein-misfolding-and-aggregation-as-a-therapeutic-target-for-polyglutamine-diseases
#6
REVIEW
Toshihide Takeuchi, Yoshitaka Nagai
The polyglutamine (polyQ) diseases, such as Huntington's disease and several types of spinocerebellar ataxias, are a group of inherited neurodegenerative diseases that are caused by an abnormal expansion of the polyQ tract in disease-causative proteins. Proteins with an abnormally expanded polyQ stretch undergo a conformational transition to β-sheet rich structure, which assemble into insoluble aggregates with β-sheet rich amyloid fibrillar structures and accumulate as inclusion bodies in neurons, eventually leading to neurodegeneration...
October 11, 2017: Brain Sciences
https://www.readbyqxmd.com/read/29019003/role-of-dynein-axonemal-heavy-chain-6-gene-expression-as-a-possible-biomarker-for-huntington-s-disease-a-translational-study
#7
Lorena B Areal, Lorraine P Pereira, Fabiola M Ribeiro, Isabella G Olmo, Marcelo R Muniz, Maria do Carmo Rodrigues, Patrik F Costa, Cristina Martins-Silva, Stephen S G Ferguson, Daniela A M Guimarães, Rita G W Pires
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterized by motor dysfunction, cognitive deficits, and psychiatric symptoms. The primary genetic cause is an expansion of cytosine adenine guanine (CAG) nucleotides of the huntingtin gene, which codes an important protein involved with neuronal signaling. The severity of HD correlates with the number of CAG repeats and individuals with longer expansions have an earlier onset and more severe symptoms. A microarray study conducted by our research group showed alteration in DNAH6 gene (encoding dynein axonemal heavy chain 6)...
October 10, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29016656/behavioral-testing-of-minipigs-transgenic-for-the-huntington-gene-a-three-year-observational-study
#8
Verena Schuldenzucker, Robin Schubert, Lisa M Muratori, Frauke Freisfeld, Lorena Rieke, Tamara Matheis, Sarah Schramke, Jan Motlik, Nicole Kemper, Ute Radespiel, Ralf Reilmann
BACKGROUND: Large animal models of Huntington's disease (HD) may increase the reliability of translating preclinical findings to humans. Long live expectancy offers opportunities particularly for disease modifying approaches, but also challenges. The transgenic (tg) HD minipig model assessed in this study exhibits a high genetic homology with humans, similar body weight, and comparable brain structures. To test long-term safety, tolerability, and efficacy of novel therapeutic approaches in this model reliable assessments applicable longitudinally for several years are warranted for all phenotypical domains relevant in HD...
2017: PloS One
https://www.readbyqxmd.com/read/28993428/disease-modifying-effects-of-ganglioside-gm1-in-huntington-s-disease-models
#9
Melanie Alpaugh, Danny Galleguillos, Juan Forero, Luis Carlos Morales, Sebastian W Lackey, Preeti Kar, Alba Di Pardo, Andrew Holt, Bradley J Kerr, Kathryn G Todd, Glen B Baker, Karim Fouad, Simonetta Sipione
Huntington's disease (HD) is a progressive neurodegenerative disorder characterized by motor, cognitive and psychiatric problems. Previous studies indicated that levels of brain gangliosides are lower than normal in HD models and that administration of exogenous ganglioside GM1 corrects motor dysfunction in the YAC128 mouse model of HD In this study, we provide evidence that intraventricular administration of GM1 has profound disease-modifying effects across HD mouse models with different genetic background...
October 9, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28990513/protective-effects-of-the-caffeine-against-neurodegenerative-diseases
#10
Ester Tellone, Antonio Galtieri, Annamaria Russo, Silvana Ficarra
Caffeine is one of the most consumed stimulant of the central nervous system. Similar to those of other stimulants, its effects are to improve brain activity and stimulate cognition learning and memory. Caffeine affects the brain by acting mainly as a non-selective blocker of the adenosine receptors (A1, A2A, A2B, and A3). The purpose of this review article is to provide an overview on the neurobiochemical impact of caffeine, focusing on the ability of the drug to effectively counteract several neurodegenerative disorders such as Alzheimer's, Parkinson's, Huntington's diseases, Multiple sclerosis and Amyotrophic lateral sclerosis and Epilepsy...
October 9, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28990420/synaptic-activity-protects-neurons-against-calcium-mediated-oxidation-and-contraction-of-mitochondria-during-excitotoxicity
#11
Constanze Depp, Carlos Bas-Orth, Lisa Schroeder, Andrea Hellwig, Hilmar Bading
AIMS: Excitotoxicity triggered by extrasynaptic N-methyl-D-aspartate-type glutamate receptors (NMDARs) has been implicated in many neurodegenerative conditions, including Alzheimer's disease, Huntington's disease, amyotrophic lateral sclerosis, and stroke. Mitochondrial calcium overload leading to mitochondrial dysfunction represents an early event in excitotoxicity. Neurons are rendered resistant to excitotoxicity by previous periods of synaptic activity that activates a nuclear calcium-driven neuroprotective gene program...
October 7, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28990240/reduced-striato-cortical-and-inhibitory-transcallosal-connectivity-in-the-motor-circuit-of-huntington-s-disease-patients
#12
Clara Garcia-Gorro, Ruth de Diego-Balaguer, Saul Martínez-Horta, Jesus Pérez-Pérez, Jaime Kulisevsky, Nadia Rodríguez-Dechicha, Irene Vaquer, Susana Subira, Matilde Calopa, Esteban Muñoz, Pilar Santacruz, Jesús Ruiz-Idiago, Celia Mareca, Nuria Caballol, Estela Camara
Huntington's disease (HD) is a neurodegenerative disorder which is primarily associated with striatal degeneration. However, the alterations in connectivity of this structure in HD have been underinvestigated. In this study, we analyzed the functional and structural connectivity of the left putamen, while participants performed a finger-tapping task. Using fMRI and DW-MRI, 30 HD gene expansion carriers (HDGEC) and 29 healthy participants were scanned. Psychophysiological interaction analysis and DTI-based tractography were employed to examine functional and structural connectivity, respectively...
October 8, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28988798/differential-carbonylation-of-proteins-in-end-stage-human-fatty-and-nonfatty-nash
#13
Colin T Shearn, Laura M Saba, James R Roede, David J Orlicky, Alisabeth H Shearn, Dennis R Petersen
OBJECTIVE: In the liver, a contributing factor in the pathogenesis of non-alcoholic fatty liver disease is oxidative stress leading to the accumulation of highly reactive electrophilic α/β unsaturated aldehydes. The objective of this study was to determine if significant differences were evident when evaluating carbonylation in human end-stage fatty nonalcoholic steatohepatitis (fNASH) compared to end-stage nonfatty NASH (nfNASH). METHODS: Using hepatic tissue obtained from healthy humans and patients diagnosed with end stage nfNASH or fNASH, overall carbonylation was assessed by immunohistochemistry (IHC) and LC-MS/MS followed by bioinformatics...
October 5, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28987184/trinucleotide-repeat-disorders
#14
W F A Den Dunnen
Trinucleotide repeat disorders comprise a variable group of inherited neurodegenerative diseases, with a large range in prevalence figures. There is a broad range in clinical presentations, but many of these diseases lead to some form of ataxia or other movement disorders, which are frequently combined with cognitive or psychiatric disturbances. This group can be divided into CAG- versus non-CAG-repeat diseases. Apart from spinocerebellar ataxia type 6 and 12 (SCA6 and SCA12), these CAG-repeat diseases, as well as Huntington disease-like 2 (HDL2) and SCA8, can be neuropathologically identified using 1C2 polyglutamine antibodies...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28986324/the-ubiquitin-conjugating-enzyme-ube2w-regulates-solubility-of-the-huntington-s-disease-protein-huntingtin
#15
Bo Wang, Li Zeng, Sean A Merillat, Joseph Ochaba, Leslie M Thompson, Sami J Barmada, Kenneth M Scaglione, Henry L Paulson
Huntington's disease (HD) is caused by a CAG repeat expansion that encodes a polyglutamine (polyQ) expansion in the HD disease protein, huntingtin (HTT). PolyQ expansion promotes misfolding and aggregation of mutant HTT (mHTT) within neurons. The cellular pathways, including ubiquitin-dependent processes, by which mHTT is regulated remain incompletely understood. Ube2W is the only ubiquitin conjugating enzyme (E2) known to ubiquitinate substrates at their amino (N)-termini, likely favoring substrates with disordered N-termini...
October 3, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28985560/ferroptosis-a-regulated-cell-death-nexus-linking-metabolism-redox-biology-and-disease
#16
REVIEW
Brent R Stockwell, José Pedro Friedmann Angeli, Hülya Bayir, Ashley I Bush, Marcus Conrad, Scott J Dixon, Simone Fulda, Sergio Gascón, Stavroula K Hatzios, Valerian E Kagan, Kay Noel, Xuejun Jiang, Andreas Linkermann, Maureen E Murphy, Michael Overholtzer, Atsushi Oyagi, Gabriela C Pagnussat, Jason Park, Qitao Ran, Craig S Rosenfeld, Konstantin Salnikow, Daolin Tang, Frank M Torti, Suzy V Torti, Shinya Toyokuni, K A Woerpel, Donna D Zhang
Ferroptosis is a form of regulated cell death characterized by the iron-dependent accumulation of lipid hydroperoxides to lethal levels. Emerging evidence suggests that ferroptosis represents an ancient vulnerability caused by the incorporation of polyunsaturated fatty acids into cellular membranes, and cells have developed complex systems that exploit and defend against this vulnerability in different contexts. The sensitivity to ferroptosis is tightly linked to numerous biological processes, including amino acid, iron, and polyunsaturated fatty acid metabolism, and the biosynthesis of glutathione, phospholipids, NADPH, and coenzyme Q10...
October 5, 2017: Cell
https://www.readbyqxmd.com/read/28985333/nonhuman-primate-models-of-neurodegenerative-disorders
#17
Marina E Emborg
Alzheimer's (AD), Huntington's (HD), and Parkinson's (PD) disease are age-related neurodegenerative disorders characterized by progressive neuronal cell death. Although each disease has particular pathologies and symptoms, accumulated evidence points to similar mechanisms of neurodegeneration, including inflammation, oxidative stress, and protein aggregation. A significant body of research is ongoing to understand how these pathways affect each other and what ultimately triggers the onset of the disease. Experiments in nonhuman primates (NHPs) account for only 5% of all research in animals...
August 10, 2017: ILAR Journal
https://www.readbyqxmd.com/read/28985318/nonhuman-primates-a-vital-model-for-basic-and-applied-research-on-female-reproduction-prenatal-development-and-women-s-health
#18
Richard L Stouffer, Teresa K Woodruff
The comparative biology of reproduction and development in mammalian species is remarkable. Hence, because of similarities in environmental and neuroendocrine control of the reproductive axis, the cyclic function of the ovary and reproductive tract, establishment and control of the maternal-fetal-placental unit during pregnancy, and reproductive aging from puberty through menopause, nonhuman primates (NHPs) are valuable models for research related to women's reproductive health and its disorders. This chapter provides examples of research over the past 10+ years using Old World monkeys (notably macaque species), baboons, and to a lesser extent New World monkeys (especially marmosets) that contributed to our understanding of the etiology and therapies or prevention of: (1) ovarian disorders, e...
August 28, 2017: ILAR Journal
https://www.readbyqxmd.com/read/28984613/the-impact-of-family-history-on-the-clinical-features-of-huntington-s-disease
#19
Gabe Kringlen, Lisa Kinsley, Sharon Aufox, Gerald Rouleau, Danny Bega
BACKGROUND: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. In most cases the disease is inherited from a parent, although a considerable number of affected persons have no reported family history of the disease. While CAG repeat length is negatively correlated with age of symptom onset, variability exists suggesting that other variables may influence symptom onset. OBJECTIVES: The objective of this study is to determine whether awareness of a family history of HD has an impact on symptom onset and disease manifestations...
October 5, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28984185/strscan-targeted-profiling-of-short-tandem-repeats-in-whole-genome-sequencing-data
#20
Haixu Tang, Etienne Nzabarushimana
BACKGROUND: Short tandem repeats (STRs) are found in many prokaryotic and eukaryotic genomes, and are commonly used as genetic markers, in particular for identity and parental testing in DNA forensics. The unstable expansion of some STRs was associated with various genetic disorders (e.g., the Huntington disease), and thus was used in genetic testing for screening individuals at high risk. Traditional STR analyses were based on the PCR amplification of STR loci followed by gel electrophoresis...
October 3, 2017: BMC Bioinformatics
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