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https://www.readbyqxmd.com/read/28622300/the-als-linked-e102q-mutation-in-sigma-receptor-1-leads-to-er-stress-mediated-defects-in-protein-homeostasis-and-dysregulation-of-rna-binding-proteins
#1
Alice Dreser, Jan Tilmann Vollrath, Antonio Sechi, Sonja Johann, Andreas Roos, Alfred Yamoah, Istvan Katona, Saeed Bohlega, Dominik Wiemuth, Yuemin Tian, Axel Schmidt, Jörg Vervoorts, Marc Dohmen, Cordian Beyer, Jasper Anink, Eleonora Aronica, Dirk Troost, Joachim Weis, Anand Goswami
Amyotrophic lateral sclerosis (ALS) is characterized by the selective degeneration of motor neurons (MNs) and their target muscles. Misfolded proteins which often form intracellular aggregates are a pathological hallmark of ALS. Disruption of the functional interplay between protein degradation (ubiquitin proteasome system and autophagy) and RNA-binding protein homeostasis has recently been suggested as an integrated model that merges several ALS-associated proteins into a common pathophysiological pathway...
June 16, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28621357/computational-investigation-of-the-human-sod1-mutant-cys146arg-that-directs-familial-amyotrophic-lateral-sclerosis
#2
E Srinivasan, R Rajasekaran
The genetic substitution mutation of Cys146Arg in the SOD1 protein is predominantly found in the Japanese population suffering from familial amyotrophic lateral sclerosis (FALS). A complete study of the biophysical aspects of this particular missense mutation through conformational analysis and producing free energy landscapes could provide an insight into the pathogenic mechanism of ALS disease. In this study, we utilized general molecular dynamics simulations along with computational predictions to assess the structural characterization of the protein as well as the conformational preferences of monomeric wild type and mutant SOD1...
June 16, 2017: Molecular BioSystems
https://www.readbyqxmd.com/read/28607591/pet-of-her2-expression-with-a-novel-18-fal-labeled-affibody
#3
Yuping Xu, Zhicheng Bai, Qianhuan Huang, Yunyun Pan, Donghui Pan, Lizhen Wang, Junjie Yan, Xinyu Wang, Runlin Yang, Min Yang
Background: Human epidermal growth factor receptor type 2 (HER2) is abundant in a wide variety of tumors and associated with the poor prognosis. Radiolabeled affibodies are potential candidates for detecting HER2-positive lesions. However, laborious multiple-step synthetic procedure and high abdomen background may hinder the widespread use. Herein, cysteinylated ZHER2:342 modified with a new hydrophilic linker (denoted as MZHER2:342) was designed and labeled using (18)FAl-NOTA strategies. The biologic efficacy of the novel tracer and its feasibilities for in vivo monitoring HER2 levels were also investigated in xenograft models with different HER2 expressions...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28596251/hypothalamic-atrophy-is-related-to-body-mass-index-and-age-at-onset-in-amyotrophic-lateral-sclerosis
#4
Martin Gorges, Pauline Vercruysse, Hans-Peter Müller, Hans-Jürgen Huppertz, Angela Rosenbohm, Gabriele Nagel, Patrick Weydt, Åsa Petersén, Albert C Ludolph, Jan Kassubek, Luc Dupuis
OBJECTIVE: Our objective was to study the hypothalamic volume in a cohort of patients with amyotrophic lateral sclerosis (ALS) including symptomatic and presymptomatic ALS mutation carriers. METHODS: High-resolution three-dimensional T1-weighted MRI datasets from 251 patients with sporadic ALS, 19 symptomatic and 32 presymptomatic ALS mutation carriers and 112 healthy controls (HC) were retrospectivally registered for manual delineation of the hypothalamus. The volume of the hypothalamus, in total or subdivided, was normalised to the intracranial volume and adjusted to age...
June 8, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28579752/comparison-of-visual-acuity-refractive-outcomes-and-satisfaction-between-lasik-performed-with-a-microkeratome-and-a-femto-laser
#5
Sharif Hashmani, Nauman Hashmani, Hina Rajani, Priyanka Ramesh, Junaid Ahmed Soomro, Syed Rashid Hussain Shah, Jaish Kumar, Sayed Mustafa Mahmood Shah
PURPOSE: To compare refractive outcomes, visual acuities, and satisfaction of patients between those treated with laser-assisted in situ keratomileusis (LASIK) using a Hansatome microkeratome (HM) and femto-assisted laser (FAL). METHODS: This was a retrospective analysis of 1,366 eyes in 687 patients who underwent LASIK with an HM (n=1,137) and an FAL (n=229) at the two centers of Hashmanis Hospital, Karachi, Pakistan. Refractive outcomes, including sphere, cylinder, and spherical equivalent in diopters (D), and visual acuities were assessed both preoperatively and at 1 month follow-up...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28558143/parsing-disease-relevant-protein-modifications-from-epiphenomena-perspective-on-the-structural-basis-of-sod1-mediated-als
#6
N D Schmitt, J N Agar
Conformational change and modification of proteins are involved in many cellular functions. However, they can also have adverse effects that are implicated in numerous diseases. How structural change promotes disease is generally not well understood. This perspective illustrates how mass spectrometry (MS), followed by toxicological and epidemiological validation, can discover disease-relevant structural changes and therapeutic strategies. We (with our collaborators) set out to characterize the structural and toxic consequences of disease-associated mutations and post-translational modifications (PTMs) of the cytosolic antioxidant protein Cu/Zn-Superoxide dismutase (SOD1)...
May 30, 2017: Journal of Mass Spectrometry: JMS
https://www.readbyqxmd.com/read/28527045/amyotrophic-lateral-sclerosis-like-superoxide-dismutase-1-proteinopathy-is-associated-with-neuronal-loss-in-parkinson-s-disease-brain
#7
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...
July 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28485128/alcoholysis-a-promising-technology-for-conversion-of-lignocellulose-and-platform-chemicals
#8
REVIEW
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 the alcoholysis process, which has remarkable advantages, such as the avoidance of treating waste water, suppression of humins or chars, and enhancement of reaction rate and product yield. 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-cerebrospinal-fluid-cu-zn-superoxide-dismutase-in-amyotrophic-lateral-sclerosis-patients-with-sod1-mutations
#9
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
OBJECTIVE: 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 leukocytes 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 familial amyotrophic lateral sclerosis (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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#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...
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
#18
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
#19
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
#20
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
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