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https://www.readbyqxmd.com/read/28654017/does-vitamin-c-influence-neurodegenerative-diseases-and-psychiatric-disorders
#1
REVIEW
Joanna Kocot, Dorota Luchowska-Kocot, Małgorzata Kiełczykowska, Irena Musik, Jacek Kurzepa
Vitamin C (Vit C) is considered to be a vital antioxidant molecule in the brain. Intracellular Vit C helps maintain integrity and function of several processes in the central nervous system (CNS), including neuronal maturation and differentiation, myelin formation, synthesis of catecholamine, modulation of neurotransmission and antioxidant protection. The importance of Vit C for CNS function has been proven by the fact that targeted deletion of the sodium-vitamin C co-transporter in mice results in widespread cerebral hemorrhage and death on post-natal day one...
June 27, 2017: Nutrients
https://www.readbyqxmd.com/read/28653853/post-translational-modifications-ptms-identified-on-endogenous-huntingtin-cluster-within-proteolytic-domains-between-heat-repeats
#2
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 postmortem brain, is suitable for detection of PTMs by mass spectrometry...
June 27, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28653279/chronic-paroxetine-treatment-prevents-the-emergence-of-abnormal-electroencephalogram-oscillations-in-huntington-s-disease-mice
#3
Sandor Kantor, Janos Varga, Shreya Kulkarni, A Jennifer Morton
Disturbance of rapid eye movement (REM) sleep appears early in both patients with Huntington's disease (HD) and mouse models of HD. Selective serotonin reuptake inhibitors are widely prescribed for patients with HD, and are also known to suppress REM sleep in healthy subjects. To test whether selective serotonin reuptake inhibitors can correct abnormal REM sleep and sleep-dependent brain oscillations in HD mice, we treated wild-type and symptomatic R6/2 mice acutely with vehicle and paroxetine (5, 10, and 20 mg/kg)...
June 26, 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/28653253/two-track-virtual-screening-approach-to-identify-both-competitive-and-allosteric-inhibitors-of-human-small-c-terminal-domain-phosphatase-1
#4
Hwangseo Park, Hye Seon Lee, Bonsu Ku, Sang-Rae Lee, Seung Jun Kim
Despite a wealth of persuasive evidence for the involvement of human small C-terminal domain phosphatase 1 (Scp1) in the impairment of neuronal differentiation and in Huntington's disease, small-molecule inhibitors of Scp1 have been rarely reported so far. This study aims to the discovery of both competitive and allosteric Scp1 inhibitors through the two-track virtual screening procedure. By virtue of the improvement of the scoring function by implementing a new molecular solvation energy term and by reoptimizing the atomic charges for the active-site Mg(2+) ion cluster, we have been able to identify three allosteric and five competitive Scp1 inhibitors with low-micromolar inhibitory activity...
June 26, 2017: Journal of Computer-aided Molecular Design
https://www.readbyqxmd.com/read/28652244/targeting-adenosine-in-braf-mutant-melanoma-reduces-tumor-growth-and-metastasis
#5
Arabella Young, Shin Foong Ngiow, Jason Madore, Julia Reinhardt, Jennifer Landsberg, Arash Chitsazan, Jai Rautela, Tobias Bald, Deborah Barkauskas, Elizabeth Ahern, Nicholas Huntington, Dirk Schadendorf, Georgina V Long, Glen M Boyle, Michael Hölzel, Richard A Scolyer, Mark J Smyth
Increasing evidence exists for the role of immunosuppressive adenosine in promoting tumor growth and spread in a number of cancer types, resulting in poor clinical outcomes. In this study, we assessed whether the CD73-adenosinergic pathway is active in melanoma patients and whether adenosine restricts the efficacy of clinically approved targeted therapies for commonly mutated BRAF(V600E) melanoma. In AJCC Stage III melanoma patients, CD73 expression (the enzyme that generates adenosine) correlated significantly with patients presenting nodal metastatic melanoma, suggesting that targeting this pathway may be effective in advanced stage disease...
June 26, 2017: Cancer Research
https://www.readbyqxmd.com/read/28652219/the-fate-of-the-brain-cholinergic-neurons-in-neurodegenerative-diseases
#6
REVIEW
Giancarlo Pepeu, Maria Grazia Giovannini
The aims of this review are: 1) to describe which cholinergic neurons are affected in brain neurodegenerative diseases leading to dementia; 2) to discuss the possible causes of the degeneration of the cholinergic neurons, 3) to summarize the functional consequences of the cholinergic deficit. The brain cholinergic system is basically constituted by three populations of phenotypically similar neurons forming a series of basal forebrain nuclei, the midpontine nuclei and a large population of striatal interneurons...
June 23, 2017: Brain Research
https://www.readbyqxmd.com/read/28649493/voluntary-saccade-inhibition-deficits-correlate-with-extended-white-matter-cortico-basal-atrophy-in-huntington-s-disease
#7
Israel Vaca-Palomares, Brian C Coe, Donald C Brien, Douglas P Munoz, Juan Fernandez-Ruiz
The ability to inhibit automatic versus voluntary saccade commands in demanding situations can be impaired in neurodegenerative diseases such as Huntington's disease (HD). These deficits could result from disruptions in the interaction between basal ganglia and the saccade control system. To investigate voluntary oculomotor control deficits related to the cortico-basal circuitry, we evaluated early HD patients using an interleaved pro- and anti-saccade task that requires flexible executive control to generate either an automatic response (look at a peripheral visual stimulus) or a voluntary response (look away from the stimulus in the opposite direction)...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28649437/integrating-personalized-gene-expression-profiles-into-predictive-disease-associated-gene-pools
#8
Jörg Menche, Emre Guney, Amitabh Sharma, Patrick J Branigan, Matthew J Loza, Frédéric Baribaud, Radu Dobrin, Albert-László Barabási
Gene expression data are routinely used to identify genes that on average exhibit different expression levels between a case and a control group. Yet, very few of such differentially expressed genes are detectably perturbed in individual patients. Here, we develop a framework to construct personalized perturbation profiles for individual subjects, identifying the set of genes that are significantly perturbed in each individual. This allows us to characterize the heterogeneity of the molecular manifestations of complex diseases by quantifying the expression-level similarities and differences among patients with the same phenotype...
2017: NPJ Systems Biology and Applications
https://www.readbyqxmd.com/read/28649394/functional-neuroimaging-and-chorea-a-systematic-review
#9
REVIEW
Debra J Ehrlich, Ruth H Walker
Chorea is a hyperkinetic movement disorder consisting of involuntary irregular, flowing movements of the trunk, neck or face. Although Huntington's disease is the most common cause of chorea in adults, chorea can also result from many other neurodegenerative, metabolic, and autoimmune conditions. While the pathophysiology of these different conditions is quite variable, recent advances in functional imaging have enabled the development of new methods for analysis of brain activity and neuronal dysfunction. In this paper we review the growing body of functional imaging data that has been performed in chorea syndromes and identify particular trends, which can be used to better understand the underlying network changes within the basal ganglia...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28646119/rest-suppression-mediates-neural-conversion-of-adult-human-fibroblasts-via-microrna-dependent-and-independent-pathways
#10
Janelle Drouin-Ouellet, Shong Lau, Per Ludvik Brattås, Daniella Rylander Ottosson, Karolina Pircs, Daniela A Grassi, Lucy M Collins, Romina Vuono, Annika Andersson Sjöland, Gunilla Westergren-Thorsson, Caroline Graff, Lennart Minthon, Håkan Toresson, Roger A Barker, Johan Jakobsson, Malin Parmar
Direct conversion of human fibroblasts into mature and functional neurons, termed induced neurons (iNs), was achieved for the first time 6 years ago. This technology offers a promising shortcut for obtaining patient- and disease-specific neurons for disease modeling, drug screening, and other biomedical applications. However, fibroblasts from adult donors do not reprogram as easily as fetal donors, and no current reprogramming approach is sufficiently efficient to allow the use of this technology using patient-derived material for large-scale applications...
June 23, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28645789/disruption-of-gaba-a-mediated-intracortical-inhibition-in-patients-with-chorea-acanthocytosis
#11
Raffaele Dubbioso, Marcello Esposito, Silvio Peluso, Rosa Iodice, Giuseppe De Michele, Lucio Santoro, Fiore Manganelli
Chorea-acanthocytosis (Ch-Ac) is an autosomal recessive neurodegenerative disorder characterized by adult-onset chorea, acanthocytes in the peripheral blood, and Huntington's disease-like neuropsychiatric symptoms. Animal studies have shown mutation-related dysregulated cortical gamma-Aminobutyric acid (GABA)ergic inhibitory networks in its pathophysiology. Herein we found that in patients with Ch-Ac there is a striking alteration of intracortical inhibitory circuits detected by using paired pulse transcranial magnetic stimulation protocols...
June 20, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28642124/identification-of-genetic-variants-associated-with-huntington-s-disease-progression-a-genome-wide-association-study
#12
Davina J Hensman Moss, Antonio F Pardiñas, Douglas Langbehn, Kitty Lo, Blair R Leavitt, Raymund Roos, Alexandra Durr, Simon Mead, Peter Holmans, Lesley Jones, Sarah J Tabrizi
BACKGROUND: Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. METHODS: We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008-11)...
June 19, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28642122/identifying-modifiers-of-huntington-s-disease-progression
#13
Carsten Saft
No abstract text is available yet for this article.
June 19, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28639617/gene-therapy-for-spinomuscular-atrophy-a-biomedical-advance-a-missed-opportunity-for-more-equitable-drug-pricing
#14
T Friedmann
An experimental approach for gene therapy of spinomuscular atrophy has been reported to prevent development of the neuromuscular features of this lethal and previously untreatable disorder. The approach involves treatment of patients suffering from SMN1-associated infantile form of the disease with a splice-switching antisense oligonucleotide (ASO) that corrects aberrant splicing of the nearly identical SMN2 gene to allow the generation of functional SMN protein, thereby mitigating the development of the disease...
June 22, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28639241/huntington-s-disease-and-mitochondria
#15
REVIEW
Mohammad Jodeiri Farshbaf, Kamran Ghaedi
Huntington's disease (HD) as an inherited neurodegenerative disorder leads to neuronal loss in striatum. Progressive motor dysfunction, cognitive decline, and psychiatric disturbance are the main clinical symptoms of the HD. This disease is caused by expansion of the CAG repeats in exon 1 of the huntingtin which encodes Huntingtin protein (Htt). Various cellular and molecular events play role in the pathology of HD. Mitochondria as important organelles play crucial roles in the most of neurodegenerative disorders like HD...
June 21, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/28638078/the-stress-response-factor-daf-16-foxo-is-required-for-multiple-compound-families-to-prolong-the-function-of-neurons-with-huntington-s-disease
#16
Francesca Farina, Emmanuel Lambert, Lucie Commeau, François-Xavier Lejeune, Nathalie Roudier, Cosima Fonte, J Alex Parker, Jacques Boddaert, Marc Verny, Etienne-Emile Baulieu, Christian Neri
Helping neurons to compensate for proteotoxic stress and maintain function over time (neuronal compensation) has therapeutic potential in aging and neurodegenerative disease. The stress response factor FOXO3 is neuroprotective in models of Huntington's disease (HD), Parkinson's disease and motor-neuron diseases. Neuroprotective compounds acting in a FOXO-dependent manner could thus constitute bona fide drugs for promoting neuronal compensation. However, whether FOXO-dependent neuroprotection is a common feature of several compound families remains unknown...
June 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28636584/proton-magnetic-resonance-spectroscopy-in-huntington-s-disease-accompanying-neuroborreliosis
#17
Helena Sarac, David Ozretic, Neven Henigsberg, Pero Hrabac, Ivan Bagaric, Lucija Bagaric-Krakan
No abstract text is available yet for this article.
June 2017: Psychiatria Danubina
https://www.readbyqxmd.com/read/28633139/mitochondrial-metabolism-in-a-large-animal-model-of-huntington-disease-the-hunt-for-biomarkers-in-the-spermatozoa-of-presymptomatic-minipigs
#18
Jana Krizova, Hana Stufkova, Marie Rodinova, Monika Macakova, Bozena Bohuslavova, Daniela Vidinska, Jiri Klima, Zdenka Ellederova, Antonin Pavlok, David S Howland, Jiri Zeman, Jan Motlik, Hana Hansikova
BACKGROUND: Huntington disease (HD) is a fatal neurodegenerative disorder involving reduced muscle coordination, mental and behavioral changes, and testicular degeneration. In order to further clarify the decreased fertility and penetration ability of the spermatozoa of transgenic HD minipig boars (TgHD), we applied a set of mitochondrial metabolism (MM) parameter measurements to this promising biological material, which can be collected noninvasively in longitudinal studies. OBJECTIVE: We aimed to optimize methods for MM measurements in spermatozoa and to establish possible biomarkers of HD in TgHD spermatozoa expressing the N-terminal part of mutated human huntingtin...
June 21, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28632780/metformin-intake-associates-with-better-cognitive-function-in-patients-with-huntington-s-disease
#19
David Hervás, Victoria Fornés-Ferrer, Ana Pilar Gómez-Escribano, María Dolores Sequedo, Carmen Peiró, José María Millán, Rafael P Vázquez-Manrique
Huntington's disease (HD) is an inherited, dominant neurodegenerative disorder caused by an abnormal expansion of CAG triplets in the huntingtin gene (htt). Despite extensive efforts to modify the progression of HD thus far only symptomatic treatment is available. Recent work suggests that treating invertebrate and mice HD models with metformin, a well-known AMPK activator which is used worldwide to treat type 2-diabetes, reduces mutant huntingtin from cells and alleviates many of the phenotypes associated to HD...
2017: PloS One
https://www.readbyqxmd.com/read/28632757/molecular-mechanism-of-drp1-assembly-studied-in-vitro-by-cryo-electron-microscopy
#20
Kaustuv Basu, Driss Lajoie, Tristan Aumentado-Armstrong, Jin Chen, Roman I Koning, Blaise Bossy, Mihnea Bostina, Attila Sik, Ella Bossy-Wetzel, Isabelle Rouiller
Mitochondria are dynamic organelles that continually adapt their morphology by fusion and fission events. An imbalance between fusion and fission has been linked to major neurodegenerative diseases, including Huntington's, Alzheimer's, and Parkinson's diseases. A member of the Dynamin superfamily, dynamin-related protein 1 (DRP1), a dynamin-related GTPase, is required for mitochondrial membrane fission. Self-assembly of DRP1 into oligomers in a GTP-dependent manner likely drives the division process. We show here that DRP1 self-assembles in two ways: i) in the presence of the non-hydrolysable GTP analog GMP-PNP into spiral-like structures of ~36 nm diameter; and ii) in the presence of GTP into rings composed of 13-18 monomers...
2017: PloS One
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