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https://www.readbyqxmd.com/read/28527045/amyotrophic-lateral-sclerosis-like-superoxide-dismutase-1-proteinopathy-is-associated-with-neuronal-loss-in-parkinson-s-disease-brain
#1
Benjamin G Trist, Katherine M Davies, Veronica Cottam, Sian Genoud, Richard Ortega, Stéphane Roudeau, Asuncion Carmona, Kasun De Silva, Valerie Wasinger, Simon J G Lewis, Perminder Sachdev, Bradley Smith, Claire Troakes, Caroline Vance, Christopher Shaw, Safa Al-Sarraj, Helen J Ball, Glenda M Halliday, Dominic J Hare, Kay L Double
Neuronal loss in numerous neurodegenerative disorders has been linked to protein aggregation and oxidative stress. Emerging data regarding overlapping proteinopathy in traditionally distinct neurodegenerative diseases suggest that disease-modifying treatments targeting these pathological features may exhibit efficacy across multiple disorders. Here, we describe proteinopathy distinct from classic synucleinopathy, predominantly comprised of the anti-oxidant enzyme superoxide dismutase-1 (SOD1), in the Parkinson's disease brain...
May 19, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28485128/alcoholysis-a-promising-technology-for-conversion-of-lignocellulose-and-platform-chemicals
#2
Shanhui Zhu, Jing Guo, Xun Wang, Jianguo Wang, Weibin Fan
In the catalytic conversion of lignocellulose to valuable products, the first entry point is to break down these biopolymers to sugar units or aromatic monomers, which is conventionally achieved by hydrolysis in water medium. Recent years have seen tremendous progress in alcoholysis process that possesses remarkable advantages such as the avoidance of treating waste water, suppression of humins or chars as well as increase of reaction rate and product yield. Here, the advances have been focused on the alcoholysis of cellulose, hemicellulose and lignin to alkyl glucosides, xylosides and aromatic monomers, respectively...
May 9, 2017: ChemSusChem
https://www.readbyqxmd.com/read/28480639/pyrimethamine-significantly-lowers-csf-sod1-in-als-patients-with-sod1-mutations
#3
Dale J Lange, Mona Shahbazi, Vincenzo Silani, Albert C Ludolph, Jochen H Weishaupt, Senda Ajroud-Driss, Kara G Fields, Rahul Remanan, Stanley H Appel, Claudia Morelli, Alberto Doretti, Luca Maderna, Stefano Messina, Ulrike Weiland, Stefan L Marklund, Peter M Andersen
BACKGROUND: Cu/Zn superoxide dismutase (SOD1) reduction prolongs survival in SOD1-transgenic animal models. Pyrimethamine produces dose dependent SOD1 reduction in cell culture systems. A previous phase-1 trial showed pyrimethamine lowers SOD1 levels in leucocytes in patients with SOD1 mutations. This study investigated whether pyrimethamine lowered SOD1 levels in the cerebrospinal fluid (CSF) in patients carrying SOD1 mutations linked to ALS (fALS/SOD1). METHODS AND STUDY DESIGN: Multicenter (5 sites), open-label, 9-month duration, dose-ranging, to determine safety and efficacy of pyrimethamine to lower SOD1 levels in the CSF of FALS/SOD1...
May 8, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28472188/a-prion-like-mechanism-for-the-propagated-misfolding-of-sod1-from-in-silico-modeling-of-solvated-near-native-conformers
#4
Eamonn F Healy
A prion-like mechanism has been developed to explain the observed promotion of amyloid aggregation caused by conversion of structurally intact SOD1 to a misfolded form. Superoxide dismutase [Cu-Zn], or SOD1, is a homo-dimeric protein that functions as an antioxidant by scavenging for superoxide. The misfolding and aggregation of SOD1 is linked to inherited, or familial, amyotrophic lateral sclerosis (FALS), a progressive and fatal neurodegenerative disease. Aberrant SOD1 folding has also been strongly implicated in disease causation for sporadic ALS, or SALS, which accounts for ~90% of ALS cases...
2017: PloS One
https://www.readbyqxmd.com/read/28463366/carbon-embedded-ni-nanocatalysts-derived-from-mofs-by-a-sacrificial-template-method-for-efficient-hydrogenation-of-furfural-to-tetrahydrofurfuryl-alcohol
#5
Yanping Su, Chun Chen, Xiaoguang Zhu, Yong Zhang, Wanbing Gong, Haimin Zhang, Huijun Zhao, Guozhong Wang
We report a fast and simple method for the synthesis of Ni-based metal-organic-frameworks (Ni-MOFs). Due to the existence of nickel ions and an organic ligand, the MOFs are employed as a sacrificial template for the facile preparation of carbon-embedded Ni (Ni/C) catalysts by a direct thermal decomposition method. The obtained Ni/C catalysts exhibit excellent catalytic activity for selectively transforming furfural (FAL) to tetrahydrofurfuryl alcohol (THFOL) due to the Ni nanoparticles (NPs) embedded uniformly in the ligand-derived carbon...
May 16, 2017: Dalton Transactions: An International Journal of Inorganic Chemistry
https://www.readbyqxmd.com/read/28449881/genetics-of-amyotrophic-lateral-sclerosis
#6
REVIEW
P Corcia, P Couratier, H Blasco, C R Andres, S Beltran, V Meininger, P Vourc'h
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease characterized by upper and lower motor neuron damage in the bulbar and spinal territories. Although the pathophysiology of ALS is still unknown, the involvement of genetic factors is no longer a subject of debate. Familial ALS (fALS) accounts for 10-20% of cases. Since the identification of the SOD1 gene, more than 20 genes have been described, of which four can explain >50% of familial cases. This review is an update focused on major aspects of the field of ALS genetics concerning both causative and susceptibility factors...
May 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28392072/non-nuclear-pool-of-splicing-factor-sfpq-regulates-axonal-transcripts-required-for-normal-motor-development
#7
Swapna Thomas-Jinu, Patricia M Gordon, Triona Fielding, Richard Taylor, Bradley N Smith, Victoria Snowden, Eric Blanc, Caroline Vance, Simon Topp, Chun-Hao Wong, Holger Bielen, Kelly L Williams, Emily P McCann, Garth A Nicholson, Alejandro Pan-Vazquez, Archa H Fox, Charles S Bond, William S Talbot, Ian P Blair, Christopher E Shaw, Corinne Houart
Recent progress revealed the complexity of RNA processing and its association to human disorders. Here, we unveil a new facet of this complexity. Complete loss of function of the ubiquitous splicing factor SFPQ affects zebrafish motoneuron differentiation cell autonomously. In addition to its nuclear localization, the protein unexpectedly localizes to motor axons. The cytosolic version of SFPQ abolishes motor axonal defects, rescuing key transcripts, and restores motility in the paralyzed sfpq null mutants, indicating a non-nuclear processing role in motor axons...
April 19, 2017: Neuron
https://www.readbyqxmd.com/read/28379367/a-drosophila-model-of-als-reveals-a-partial-loss-of-function-of-causative-human-pfn1-mutants
#8
Chi-Hong Wu, Anthony Giampetruzzi, Helene Tran, Claudia Fallini, Fen-Biao Gao, John E Landers
Mutations in the profilin 1 (PFN1) gene are causative for familial amyotrophic lateral sclerosis (fALS). However, it is still not fully understood how these mutations lead to neurodegeneration. To address this question, we generated a novel Drosophila model expressing human wild-type and ALS-causative PFN1 mutants. We show that at larval neuromuscular junctions (NMJ), motor neuron expression of wild-type human PFN1 increases the number of ghost boutons, active zone density, F-actin content, and the formation of filopodia...
June 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28339523/factors-affecting-the-quality-of-life-of-chronic-dialysis-patients
#9
Beata Jankowska-Polanska, Izabella Uchmanowicz, Agata Wysocka, Bartosz Uchmanowicz, Katarzyna Lomper, Andrzej M Fal
: Patients on hemodialysis must adjust their life plans to the treatment. They are aware of losing their health and independence. Therefore, acceptance of illness (AI) is important and allows the patient to adjust to new situation and alleviates negative emotions The aim of study was to assess the impact of AI and other socioclinical variables on hemodialysis patients' quality of life (QoL).The study included 100 patients aged 20-85 (M = 57), treated with hemodialysis for at least 2 years. Two validated instruments were used: the Acceptance of Illness Scale (AIS) and the World Health Organization Quality of Life questionnaire...
October 19, 2016: European Journal of Public Health
https://www.readbyqxmd.com/read/28291249/analysis-of-sod1-mutations-in-a-chinese-population-with-amyotrophic-lateral-sclerosis-a-case-control-study-and-literature-review
#10
QianQian Wei, QingQing Zhou, YongPing Chen, RuWei Ou, Bei Cao, YaQian Xu, Jing Yang, Hui-Fang Shang
Although the copper/zinc superoxide dismutase-1 (SOD1) gene has been identified in both familial ALS (FALS) and sporadic ALS (SALS), it has rarely been studied in Chinese patients with ALS, and there are few studies with large samples. This study sought to assess the prevalence of SOD1 mutations in Chinese ALS patients. We screened a cohort of 499 ALS patients (487 SALS and 12 FALS) from the Department of Neurology at the West China Hospital of Sichuan University and analyzed all coding exons of SOD1 by Sanger sequencing...
March 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28204553/the-rna-polymerase-associated-factor-1-complex-is-required-for-plant-touch-responses
#11
Gregory S Jensen, Kateryna Fal, Olivier Hamant, Elizabeth S Haswell
No abstract text is available yet for this article.
January 1, 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28165465/apical-dendrite-degeneration-a-novel-cellular-pathology-for-betz-cells-in-als
#12
Barış Genç, Javier H Jara, Amiko K B Lagrimas, Peter Pytel, Raymond P Roos, M Marsel Mesulam, Changiz Geula, Eileen H Bigio, P Hande Özdinler
Apical dendrites of Betz cells are important sites for the integration of cortical input, however their health has not been fully assessed in ALS patients. We investigated the primary motor cortices isolated from post-mortem normal control subjects, patients with familial ALS (fALS), sporadic ALS (sALS), ALS with frontotemporal dementia (FTD-ALS), and Alzheimer's disease (AD), and found profound apical dendrite degeneration of Betz cells in both fALS and sALS, as well as FTD-ALS patients. In contrast, Betz cells of AD patients and normal controls retain cellular integrity in the motor cortex, and CA1 pyramidal neurons show abnormalities predominantly within their soma, rather than the apical dendrite...
February 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28159885/genetic-testing-in-als-a-survey-of-current-practices
#13
REVIEW
Alice Vajda, Russell L McLaughlin, Mark Heverin, Owen Thorpe, Sharon Abrahams, Ammar Al-Chalabi, Orla Hardiman
OBJECTIVE: To determine the degree of consensus among clinicians on the clinical use of genetic testing in amyotrophic lateral sclerosis (ALS) and the factors that determine decision-making. METHODS: ALS researchers worldwide were invited to participate in a detailed online survey to determine their attitudes and practices relating to genetic testing. RESULTS: Responses from 167 clinicians from 21 different countries were analyzed. The majority of respondents (73...
March 7, 2017: Neurology
https://www.readbyqxmd.com/read/28123103/editor-s-highlight-embryonic-exposure-to-the-environmental-neurotoxin-bmaa-negatively-impacts-early-neuronal-development-and-progression-of-neurodegeneration-in-the-sod1-g93r-zebrafish-model-of-amyotrophic-lateral-sclerosis
#14
Samantha Powers, Samantha Kwok, Emily Lovejoy, Tom Lavin, Roger B Sher
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder leading to progressive paralysis and death within 2-5 years after diagnosis. Sporadic cases (SALS) comprise approximately 90% of cases with the remaining 10% familial (FALS) caused by mutations in approximately 27 genes. The vast heterogeneity seen in age and location of disease onset, rate of progression, and duration of disease has been linked with genetic and environmental influences in both SALS and FALS cases. Increased ALS incidence clusters in Guam, southern France, and Maryland have been linked with exposure to Beta-methylamino-L-alanine (BMAA), a nonproteinogenic amino acid produced by cyanobacteria, dinoflaggelates, and diatoms...
May 1, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28060251/in-vivo-model-for-testing-effect-of-hypoxia-on-tumor-metastasis
#15
Sung-Hyeok Hong, Jason U Tilan, Susana Galli, Rachel Acree, Katherine Connors, Akanksha Mahajan, Larissa Wietlisbach, Taylor Polk, Ewa Izycka-Swieszewska, Yi-Chien Lee, Luciane R Cavalli, Olga C Rodriguez, Chris Albanese, Joanna B Kitlinska
Hypoxia has been implicated in the metastasis of Ewing sarcoma (ES) by clinical observations and in vitro data, yet direct evidence for its pro-metastatic effect is lacking and the exact mechanisms of its action are unclear. Here, we report an animal model that allows for direct testing of the effects of tumor hypoxia on ES dissemination and investigation into the underlying pathways involved. This approach combines two well-established experimental strategies, orthotopic xenografting of ES cells and femoral artery ligation (FAL), which induces hindlimb ischemia...
December 9, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28057713/genetic-epidemiology-of-amyotrophic-lateral-sclerosis-a-systematic-review-and-meta-analysis
#16
Zhang-Yu Zou, Zhi-Rui Zhou, Chun-Hui Che, Chang-Yun Liu, Rao-Li He, Hua-Pin Huang
BACKGROUND: Genetic studies have shown that C9orf72, SOD1, TARDBP and FUS are the most common mutated genes in amyotrophic lateral sclerosis (ALS). Here, we performed a meta-analysis to determine the mutation frequencies of these major ALS-related genes in patients with ALS. METHODS: We performed an extensive literature research to identify all original articles reporting frequencies of C9orf72, SOD1, TARDBP and FUS mutations in ALS. The mutation frequency and effect size of each study were combined...
January 5, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27986843/the-rna-polymerase-associated-factor-1-complex-is-required-for-plant-touch-responses
#17
Gregory S Jensen, Kateryna Fal, Olivier Hamant, Elizabeth S Haswell
Thigmomorphogenesis is a stereotypical developmental alteration in the plant body plan that can be induced by repeatedly touching plant organs. To unravel how plants sense and record multiple touch stimuli we performed a novel forward genetic screen based on the development of a shorter stem in response to repetitive touch. The touch insensitive (ths1) mutant identified in this screen is defective in some aspects of shoot and root thigmomorphogenesis. The ths1 mutant is an intermediate loss-of-function allele of VERNALIZATION INDEPENDENCE 3 (VIP3), a previously characterized gene whose product is part of the RNA polymerase II-associated factor 1 (Paf1) complex...
December 16, 2016: Journal of Experimental Botany
https://www.readbyqxmd.com/read/27978769/genetic-analysis-of-patients-with-familial-and-sporadic-amyotrophic-lateral-sclerosis-in-a-brazilian-research-center
#18
Gerson Chadi, Jessica Ruivo Maximino, Frederico Mennucci de Haidar Jorge, FabríCIO Castro dE Borba, Joyce Meire Gilio, Dagoberto Callegaro, Camila GalvãO Lopes, Samantha Nakamura Dos Santos, Gabriela Natania Sales Rebelo
OBJECTIVE: To investigate gene mutations in familial form (FALS) and sporadic form (SALS) of amyotrophic lateral sclerosis (ALS) in a highly miscegenated population. METHODS: Frequencies of mutations in the C9orfF72, TARDBP, SOD1, FUS and VAPB genes were investigated in a cohort of FALS (n = 39) and SALS (n = 189) subjects from the Research Centre of the University of São Paulo School of Medicine. All patients were subjected to C9orf72 and TARDBP analyses...
December 15, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27965593/the-cu-zn-superoxide-dismutase-not-only-a-dismutase-enzyme
#19
REVIEW
Paolo Mondola, Simona Damiano, Anna Sasso, Mariarosaria Santillo
The Cu,Zn superoxide dismutase (SOD1) is an ubiquitary cytosolic dimeric carbohydrate free molecule, belonging to a family of isoenzymes involved in the scavenger of superoxide anions. This effect certainly represents the main and well known function ascribed to this enzyme. Here we highlight new aspects of SOD1 physiology that point out some inedited effects of this enzyme in addition to the canonic role of oxygen radical enzymatic dismutation. In the last two decades our research group produced many data obtained in in vitro studies performed in many cellular lines, mainly neuroblastoma SK-N-BE cells, indicating that this enzyme is secreted either constitutively or after depolarization induced by high extracellular K(+) concentration...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27894690/a-systematic-review-of-the-association-between-occupational-exposure-to-formaldehyde-and-effects-on-chromosomal-dna-damage-measured-using-the-cytokinesis-block-micronucleus-assay-in-lymphocytes
#20
REVIEW
Michael Fenech, Armen Nersesyan, Siegfried Knasmueller
Formaldehyde (FAL) is classified as a Class I carcinogen by the WHO International Agency for Research on Cancer. Therefore, there is a need to validate appropriate methods for detecting its genotoxic effects in vivo in humans. One of the most commonly used methods to measure the genotoxic effects of exposure to environmental chemicals is the lymphocyte cytokinesis-block micronucleus (L-CBMN assay). We performed a systematic review and statistical analysis of the results from all of the published studies in which the L-CBMN assay was used to measure the genotoxic effects of human exposure to FAL...
October 2016: Mutation Research
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