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https://www.readbyqxmd.com/read/28204553/the-rna-polymerase-associated-factor-1-complex-is-required-for-plant-touch-responses
#1
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
#2
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
#3
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...
February 3, 2017: Neurology
https://www.readbyqxmd.com/read/28123103/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
#4
Samantha Powers, Samantha Kwok, Emily Lovejoy, Tom Lavin, Roger 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 ∼90% of cases with the remaining 10% familial (FALS) caused by mutations in ∼27 genes. The vast heterogeneity seen in age and location of disease onset, rate of progression, and duration of disease have 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 non-proteinogenic amino acid produced by cyanobacteria, dinoflaggelates, and diatoms...
January 25, 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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/27867347/susceptibility-of-mutant-sod1-to-form-a-destabilized-monomer-predicts-cellular-aggregation-and-toxicity-but-not-in-vitro-aggregation-propensity
#11
Luke McAlary, J Andrew Aquilina, Justin J Yerbury
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the rapid and progressive degeneration of upper and lower motor neurons in the spinal cord, brain stem and motor cortex. The first gene linked to ALS was the gene encoding the free radical scavenging enzyme superoxide dismutase-1 (SOD1) that currently has over 180, mostly missense, ALS-associated mutations identified. SOD1-associated fALS patients show remarkably broad mean survival times (<1 year to ~17 years death post-diagnosis) that are mutation dependent...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27773815/ciaps-promote-the-proteasomal-degradation-of-mutant-sod1-linked-to-familial-amyotrophic-lateral-sclerosis
#12
Jin Sun Choi, Kidae Kim, Do Hee Lee, Sayeon Cho, Jae Du Ha, Byoung Chul Park, Sunhong Kim, Sung Goo Park, Jeong-Hoon Kim
Although the ubiquitin-proteasome system is believed to play an important role in the pathogenesis of familial amyotrophic lateral sclerosis (FALS), caused by mutations in Cu/Zn-superoxide dismutase 1 (SOD1), the mechanism of how mutant SOD1 protein is regulated in cells is still poorly understood. Here we have demonstrated that cellular inhibitor of apoptosis proteins (cIAPs) are specifically associated with FALS-linked mutant SOD1 (mSOD1) and that this interaction promotes the ubiquitin-dependent proteasomal degradation of mutant SOD1...
October 20, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27729781/the-influence-of-frailty-syndrome-on-acceptance-of-illness-in-elderly-patients-with-chronic-obstructive-pulmonary-disease
#13
Izabella Uchmanowicz, Beata Jankowska-Polanska, Mariusz Chabowski, Bartosz Uchmanowicz, Andrzej M Fal
COPD is one of the most debilitating diseases. Frailty syndrome and advanced age may decrease the acceptance of illness, quality of life, and worsen health conditions in these patients, as well as lead to an increase in health care expenses. The aim of the study was to assess how the level of frailty affects the acceptance of illness in elderly patients with COPD. We also aimed to evaluate the associations between sociodemographic and clinical factors and the level of acceptance of illness, anxiety, and frailty in this group of patients...
2016: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/27717933/antiviral-activity-of-the-virus-blocking-factor-vbf-derived-i-a-from-pelargonium-extract-and-sambucus-juice-against-different-human-pathogenic-cold-viruses-in-vitro
#14
Andrzej M Fal, Frank Conrad, Karina Schönknecht, Hartwig Sievers, Anna Pawińska
THE AIM: The in-vitro antiviral activity of the "Virus Blocking Factor" (VBF), a combination of Pelargonium extract and Sambucus juice with addition of Betaglucan 1,3 / 1,6, Zincum gluconium, Acidum ascorbicum, was studied against human pathogenic viruses: Influenza A H1N1 (FluA H1N1), Rhinovirus B subtype 14 (HRV14), Respiratory Syncytial Virus (RSV), Parainfluenzavirus subtype 3 (Para 3), and Adenovirus C subtype 5 (Adeno 5). METHOD: Antiviral activity was assessed using plaque-reduction assays after adding the test substance post infection of the MDCK, HeLa and HEp-2 cells with the viruses...
2016: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/27704280/distinct-conformers-of-transmissible-misfolded-sod1-distinguish-human-sod1-fals-from-other-forms-of-familial-and-sporadic-als
#15
Jacob I Ayers, Jeffrey Diamond, Adriana Sari, Susan Fromholt, Ahmad Galaleldeen, Lyle W Ostrow, Jonathan D Glass, P John Hart, David R Borchelt
Evidence of misfolded wild-type superoxide dismutase 1 (SOD1) has been detected in spinal cords of sporadic ALS (sALS) patients, suggesting an etiological relationship to SOD1-associated familial ALS (fALS). Given that there are currently a number of promising therapies under development that target SOD1, it is of critical importance to better understand the role of misfolded SOD1 in sALS. We previously demonstrated the permissiveness of the G85R-SOD1:YFP mouse model for MND induction following injection with tissue homogenates from paralyzed transgenic mice expressing SOD1 mutations...
December 2016: Acta Neuropathologica
https://www.readbyqxmd.com/read/27695694/glycation-in-demetalated-superoxide-dismutase-1-prevents-amyloid-aggregation-and-produces-cytotoxic-ages-adducts
#16
Ivana Sirangelo, Filomena M Vella, Gaetano Irace, Giuseppe Manco, Clara Iannuzzi
Superoxide dismutase 1 (SOD1) has been implicated with familial amyotrophic lateral sclerosis (fALS) through accumulation of protein amyloid aggregates in motor neurons of patients. Amyloid aggregates and protein inclusions are a common pathological feature of many neurological disorders in which protein aggregation seems to be directly related to neurotoxicity. Although, extensive studies performed on the aggregation process of several amyloidogenic proteins in vitro allowed the identification of many physiological factors involved, the molecular mechanisms underlying the formation of amyloid aggregates in vivo and in pathological conditions are still poorly understood...
2016: Frontiers in Molecular Biosciences
https://www.readbyqxmd.com/read/27679581/skeletal-muscle-satellite-cells-mitochondria-and-micrornas-their-involvement-in-the-pathogenesis-of-als
#17
REVIEW
Stavroula Tsitkanou, Paul A Della Gatta, Aaron P Russell
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND), is a fatal motor neuron disorder. It results in progressive degeneration and death of upper and lower motor neurons, protein aggregation, severe muscle atrophy and respiratory insufficiency. Median survival with ALS is between 2 and 5 years from the onset of symptoms. ALS manifests as either familial ALS (FALS) (~10% of cases) or sporadic ALS (SALS), (~90% of cases). Mutations in the copper/zinc (CuZn) superoxide dismutase (SOD1) gene account for ~20% of FALS cases and the mutant SOD1 mouse model has been used extensively to help understand the ALS pathology...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27652380/the-impact-of-sex-and-age-on-the-prevalence-of-clinically-relevant-sensitization-and-asymptomatic-sensitization-in-the-general-population
#18
Anna Dor-Wojnarowska, Jerzy Liebhart, Jadwiga Miecielica, Marek Rabski, Andrzej Fal, Bolesław Samoliński, Marita Nittner-Marszalska
The objective of our study was to evaluate the impact of sex and age on the prevalence of sensitization to inhalant allergens. The study was performed as a part of Polish Epidemiology of Allergic Diseases study, and data concerning citizens of Wroclaw were analyzed. The participants were divided into three age groups (6-7, 13-14, and 20-44 years) with a subdivision according to sex. We randomly selected 1409 individuals, 439 people complied; the complete set of tests was performed on 421 of them. We found that 37...
September 20, 2016: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/27649813/homoleptic-phosphaalkyne-complexes-of-silver-i
#19
Eva-Maria Rummel, Piero Mastrorilli, Stefano Todisco, Mario Latronico, Gábor Balázs, Alexander V Virovets, Manfred Scheer
By employing silver salts with a weakly coordinating anion Ag[A] ([A]=[FAl{OC12 F15 }3 ], [Al{OC(CF3 )3 }4 ]), two phosphaalkynes could be coordinated side-on to a bare silver(I) center to form the unprecedented homoleptic complexes [Ag(η(2) -P≡CtBu)2 ][FAl{OC12 F15 }3 ] (1) and [Ag(η(2) -P≡CtBu)2 ][Al{OC(CF3 )3 }4 ] (2). DFT calculations show that the perpendicular arrangement in 1 is the minimum energy structure of the coordination of the two phosphaalkynes to a silver atom, whereas for 2 a unique square-planar coordination mode of the phosphaalkynes at Ag(+) was found...
October 10, 2016: Angewandte Chemie
https://www.readbyqxmd.com/read/27634045/familial-amyotrophic-lateral-sclerosis-linked-mutations-in-profilin-1-exacerbate-tdp-43-induced-degeneration-in-the-retina-of-drosophila-melanogaster-through-an-increase-in-the-cytoplasmic-localization-of-tdp-43
#20
Koji Matsukawa, Tadafumi Hashimoto, Taisei Matsumoto, Ryoko Ihara, Takahiro Chihara, Masayuki Miura, Tomoko Wakabayashi, Takeshi Iwatsubo
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive and selective loss of motor neurons. Causative genes for familial ALS (fALS), e.g. TARDBP or FUS/TLS, have been found, among which mutations within the profilin 1 (PFN1) gene have recently been identified in ALS18. To elucidate the mechanism whereby PFN1 mutations lead to neuronal death, we generated transgenic Drosophila melanogaster overexpressing human PFN1 in the retinal photoreceptor neurons. Overexpression of wild-type or fALS mutant PFN1 caused no degenerative phenotypes in the retina...
November 4, 2016: Journal of Biological Chemistry
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