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protein C deficiency

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https://www.readbyqxmd.com/read/28822907/leaf-carbohydrates-influence-transcriptional-and-post-transcriptional-regulation-of-nocturnal-carboxylation-and-starch-degradation-in-the-facultative-cam-plant-mesembryanthemum-crystallinum
#1
Tahar Taybi, John C Cushman, Anne M Borland
Nocturnal degradation of transitory starch is a limiting factor for the optimal function of crassulacean acid metabolism and must be coordinated with phosphoenolypyruvate carboxylase (PEPC)-mediated CO2 uptake to optimise carbon gain over the diel cycle. The aim of this study was to test the hypothesis that nocturnal carboxylation is coordinated with starch degradation in CAM via a mechanism whereby the products of these pathways regulate diel transcript abundance and enzyme activities for both processes. To test this hypothesis, a starch and CAM-deficient mutant of Mesembryanthemum crystallinum was compared with wild type plants under well-watered and saline (CAM-inducing) conditions...
August 5, 2017: Journal of Plant Physiology
https://www.readbyqxmd.com/read/28822083/alfalfa-derived-hsp70-administered-intranasally-improves-insulin-sensitivity-in-mice
#2
Michael Tytell, Ashley T Davis, Jareca Giles, Lauren C Snider, Ruoyu Xiao, Stephen G Dozier, Tennille D Presley, Kylie Kavanagh
Heat shock protein (HSP) 70 is an abundant cytosolic chaperone protein that is deficient in insulin-sensitive tissues in diabetes and unhealthy aging, and is considered a longevity target. It is also protective in neurological disease models. Using HSP70 purified from alfalfa and administered as an intranasal solution, we tested in whether the administration of Hsp70 to diet-induced diabetic mice would improve insulin sensitivity. Both the 10 and 40 μg given three times per week for 26 days significantly improved the response to insulin...
August 18, 2017: Cell Stress & Chaperones
https://www.readbyqxmd.com/read/28821630/il-17a-deficiency-mitigates-bleomycin-induced-complement-activation-during-lung-fibrosis
#3
Ellyse Cipolla, Amanda J Fisher, Hongmei Gu, Elizabeth A Mickler, Manisha Agarwal, Carol A Wilke, Kevin K Kim, Bethany B Moore, Ragini Vittal
Interleukin 17A (IL-17A) and complement (C') activation have each been implicated in the pathogenesis of idiopathic pulmonary fibrosis (IPF). We have reported that IL-17A induces epithelial injury via TGF-β in murine bronchiolitis obliterans; that TGF-β and the C' cascade present signaling interactions in mediating epithelial injury; and that the blockade of C' receptors mitigates lung fibrosis. In the present study, we investigated the role of IL-17A in regulating C' in lung fibrosis. Microarray analyses of mRNA isolated from primary normal human small airway epithelial cells indicated that IL-17A (100 ng/ml; 24 h; n = 5 donor lungs) induces C' components (C' factor B, C3, and GPCR kinase isoform 5), cytokines (IL8, -6, and -1B), and cytokine ligands (CXCL1, -2, -3, -5, -6, and -16)...
August 17, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28821247/a-cost-effective-approach-to-produce-15-n-labelled-amino-acids-employing-chlamydomonas-reinhardtii-cc503
#4
Jesús Nicolás Carcelén, Juan Manuel Marchante-Gayón, Pablo Rodríguez González, Luis Valledor, María Jesús Cañal, José Ignacio García Alonso
BACKGROUND: The use of enriched stable isotopes is of outstanding importance in chemical metrology as it allows the application of isotope dilution mass spectrometry (IDMS). Primary methods based on IDMS ensure the quality of the analytical measurements and traceability of the results to the international system of units. However, the synthesis of isotopically labelled molecules from enriched stable isotopes is an expensive and a difficult task. Either chemical and biochemical methods to produce labelled molecules have been proposed, but so far, few cost-effective methods have been described...
August 18, 2017: Microbial Cell Factories
https://www.readbyqxmd.com/read/28819452/co-activation-of-pkc-%C3%AE-by-crif1-modulates-oxidative-stress-in-bone-marrow-multipotent-mesenchymal-stromal-cells-after-irradiation-by-phosphorylating-nrf2-ser40
#5
Lili Chen, Qian Ran, Yang Xiang, Lixin Xiang, Li Chen, Fengjie Li, Jiang Wu, Chun Wu, Zhongjun Li
The high mortality associated with pancytopenia and multi-organ failure resulting from hematopoietic disorders of acute radiation syndrome (h-ARS) creates an urgent need for developing more effective treatment strategies. Here, we showed that bone marrow multipotent mesenchymal stromal cells (BMMSCs) effectively regulate oxidative stress following radiative injury, which might be on account of irradiation-induced elevation of protein levels of CR6-interacting factor 1(CRIF1) and nuclear factor E2-related factor 2(NRF2)...
2017: Theranostics
https://www.readbyqxmd.com/read/28819108/spag6-mutant-mice-have-defects-in-development-and-function-of-spiral-ganglion-neurons-apoptosis-and-higher-sensitivity-to-paclitaxel
#6
Xiaofei Li, Lei Xu, Gaoying Sun, Xianmin Wu, Xiaohui Bai, Jianfeng Li, Jerome F Strauss, Zhibing Zhang, Haibo Wang
Mammalian Sperm Associated Antigen 6 (SPAG6) is the orthologue of Chlamydomonas PF16, a protein localized in the axoneme central apparatus. Recent studies showed that Spag6 has a role in brain neuronal proliferation and differentiation. The mammalian spiral ganglion neurons (SGNs) are specialzed bipolar neurons in the inner ear. However, the role of SPAG6 in SGN has not been elucidated. Therefore, We hypothesized that a Spag6 knockout would affect the development and function of SGNs. We utilized Spag6-deficient mice and SGN explants to define the role of SPAG6...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28819017/adrenocortical-carcinoma-and-succinate-dehydrogenase-gene-mutations
#7
Tobias Else, Antonio Marcondes Lerario, Jessica Everett, Lori Haymon, Deborah Wham, Michael Mullane, Tremika LeShan Wilson, Irene Rainville, Huma Rana, Andrew J Worth, Nathaniel W Snyder, Ian A Blair, Rana McKay, Kerry Kilbridge, Gary D Hammer, Justine Barletta, Anand Vaiyda
OBJECTIVE: Germline loss-of-function mutations in succinate dehydrogenase (SDHx) genes results in rare tumor syndromes that include pheochromocytoma, paraganglioma, and others. Here we report a case series of patients with adrenocortical carcinoma (ACC) that harbor SDHx germline mutations. PATIENTS AND RESULTS: We report four unrelated patients with ACC and SDHx mutations. All cases presented with Cushing syndrome and large adrenal masses that were confirmed to be ACC on pathology...
August 17, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28818555/pyridoxine-5-phosphate-oxidase-pnpo-deficiency-clinical-and-biochemical-alterations-associated-with-the-c-347g-a-p-%C3%A2-arg116gln-mutation
#8
Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, Manuela Tolve, Alessandro Paiardini, Carla Carducci, Davide Mei, Martino Montomoli, Angela Tramonti, Renzo Guerrini, Roberto Contestabile, Vincenzo Leuzzi
BACKGROUND: Pyridoxal-5(')-phosphate oxidase (PNPO) deficiency presents as a severe neonatal encephalopathy responsive to pyridoxal-5(')-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected genetic variants on PNPO gene whose pathogenic role and clinical expression remain to be established. OBJECTIVE: This paper aims to characterize the functional effects of the c.347G>A (p.Arg116Gln) mutation in the PNPO gene in order to define its pathogenicity and describe the clinical features of new patients with epilepsy carrying this mutation...
August 12, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28817702/global-gene-expression-analysis-of-the-response-of-physic-nut-jatropha-curcas-l-to-medium-and-long-term-nitrogen-deficiency
#9
Qi Kuang, Sheng Zhang, Pingzhi Wu, Yaping Chen, Meiru Li, Huawu Jiang, Guojiang Wu
Jatropha curcas L. is an important biofuel plant with excellent tolerance of barren environments. However, studies on the regulatory mechanisms that operate in this plant in response to nitrogen (N) shortage are scarce. In this study, genome-wide transcriptional profiles of the roots and leaves of 8-week old physic nut seedlings were analyzed after 2 and 16 days of N starvation. Enrichment results showed that genes associated with N metabolism, processing and regulation of RNA, and transport predominated among those showing alterations in expression...
2017: PloS One
https://www.readbyqxmd.com/read/28816422/dolichol-kinase-deficiency-dolk-cdg-two-new-cases-and-expansion-of-phenotype
#10
Eric T Rush, Craig V Baker, William B Rizzo
Congenital disorders of glycosylation (CDGs) are a group of genetic diseases caused by mutations in genes that are necessary for the addition of oligosaccharides to acceptor proteins or lipids. An early step in this process requires dolichol kinase (DK) to catalyze the formation of dolichyl phosphate, which acts as a membrane anchor for initial attachment of sugar residues that are subsequently built up to oligosaccharides and transferred to acceptor proteins and lipids for further processing. Biallelic mutations in DOLK, the gene for DK, result in human in a CDG with variable symptoms, ranging from nonsyndromic dilated cardiomypopathy to severe multiorgan involvement...
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815566/maturation-promoting-factor-destabilization-mediates-human-chorionic-gonadotropin-induced-meiotic-resumption-in-rat-oocytes
#11
Meenakshi Tiwari, Shail K Chaube
Human chorionic gonadotropin (hCG) mimics the action of luteinizing hormone (LH) and triggers meiotic maturation and ovulation in mammals. The mechanism by which hCG triggers meiotic resumption in mammalian oocytes remains poorly understood. We aimed to find out the impact of hCG surge on morphological changes, adenosine 3',5'-cyclic monophosphate (cAMP), guanosine 3',5'-cyclic monophosphate (cGMP), cell division cycle 25B (Cdc25B), Wee1, early mitotic inhibitor 2 (Emi2), anaphase-promoting complex/cyclosome (APC/C), meiotic arrest deficient protein 2 (MAD2), phosphorylation status of cyclin-dependent kinase 1 (Cdk1), its activity and cyclin B1 expression levels during meiotic resumption from diplotene as well as metaphase-II (M-II) arrest in cumulus oocyte complexes (COCs)...
August 16, 2017: Development, Growth & Differentiation
https://www.readbyqxmd.com/read/28814533/dietary-selenium-deficiency-or-excess-reduces-sperm-quality-and-testicular-mrna-abundance-of-nuclear-glutathione-peroxidase-4-in-rats
#12
Ji-Chang Zhou, Shijie Zheng, Junluan Mo, Xiongshun Liang, Yuanfei Xu, Huimin Zhang, Chunmei Gong, Xiao-Li Liu, Xin Gen Lei
Background: Glutathione peroxidase (GPX) 4 and selenoprotein P (SELENOP) are abundant, and several variants are expressed in the testis.Objective: We determined the effects of dietary selenium deficiency or excess on sperm quality and expressions of GPX4 and SELENOP variants in rat testis and liver.Methods: After weaning, male Sprague-Dawley rats were fed a Se-deficient basal diet (BD) for 5 wk until they were 9 wk old [mean ± SEM body weight (BW) = 256 ± 5 g]. They were then fed the BD diet alone (deficient) or with 0...
August 16, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28813513/validation-of-commercial-mas-receptor-antibodies-for-utilization-in-western-blotting-immunofluorescence-and-immunohistochemistry-studies
#13
Valeria Burghi, Natalia Cristina Fernández, Yamila Belén Gándola, Verónica Gabriela Piazza, Diego Tomás Quiroga, Érica Guilhen Mario, Janaína Felix Braga, Michael Bader, Robson Augusto Souza Santos, Fernando Pablo Dominici, Marina Cecilia Muñoz
Mas receptor (MasR) is a G protein-coupled receptor proposed as a candidate for mediating the angiotensin (Ang)-converting enzyme 2-Ang (1-7) protective axis of renin-angiotensin system. Because the role of this receptor is not definitively clarified, determination of MasR tissue distribution and expression levels constitutes a critical knowledge to fully understanding its function. Commercially available antibodies have been widely employed for MasR protein localization and quantification, but they have not been adequately validated...
2017: PloS One
https://www.readbyqxmd.com/read/28812215/proteomic-alterations-associated-with-biomechanical-dysfunction-are-early-processes-in-the-emilin1-deficient-mouse-model-of-aortic-valve-disease
#14
P M Angel, D A Narmoneva, M K Sewell-Loftin, C Munjal, L Dupuis, B J Landis, A Jegga, C B Kern, W D Merryman, H S Baldwin, G M Bressan, Robert B Hinton
Aortic valve (AV) disease involves stiffening of the AV cusp with progression characterized by inflammation, fibrosis, and calcification. Here, we examine the relationship between biomechanical valve function and proteomic changes before and after the development of AV pathology in the Emilin1-/- mouse model of latent AV disease. Biomechanical studies were performed to quantify tissue stiffness at the macro (micropipette) and micro (atomic force microscopy (AFM)) levels. Micropipette studies showed that the Emilin1-/- AV annulus and cusp regions demonstrated increased stiffness only after the onset of AV disease...
August 15, 2017: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/28811500/human-microcephaly-protein-rttn-interacts-with-stil-and-is-required-to-build-full-length-centrioles
#15
Hsin-Yi Chen, Chien-Ting Wu, Chieh-Ju C Tang, Yi-Nan Lin, Won-Jing Wang, Tang K Tang
Mutations in many centriolar protein-encoding genes cause primary microcephaly. Using super-resolution and electron microscopy, we find that the human microcephaly protein, RTTN, is recruited to the proximal end of the procentriole at early S phase, and is located at the inner luminal walls of centrioles. Further studies demonstrate that RTTN directly interacts with STIL and acts downstream of STIL-mediated centriole assembly. CRISPR/Cas9-mediated RTTN gene knockout in p53-deficient cells induce amplification of primitive procentriole bodies that lack the distal-half centriolar proteins, POC5 and POC1B...
August 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/28811476/lyn-and-fyn-function-as-molecular-switches-that-control-immunoreceptors-to-direct-homeostasis-or-inflammation
#16
Sanae Ben Mkaddem, Amaya Murua, Héloise Flament, Dimitri Titeca-Beauport, Carine Bounaix, Luca Danelli, Pierre Launay, Marc Benhamou, Ulrich Blank, Eric Daugas, Nicolas Charles, Renato C Monteiro
Immunoreceptors can transduce either inhibitory or activatory signals depending on ligand avidity and phosphorylation status, which is modulated by the protein kinases Lyn and Fyn. Here we show that Lyn and Fyn control immune receptor signaling status. SHP-1 tyrosine 536 phosphorylation by Lyn activates the phosphatase promoting inhibitory signaling through the immunoreceptor. By contrast, Fyn-dependent phosphorylation of SHP-1 serine 591 inactivates the phosphatase, enabling activatory immunoreceptor signaling...
August 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/28811250/deficiency-in-perilipin-5-reduces-mitochondrial-function-and-membrane-depolarization-in-mouse-hearts
#17
Linda Andersson, Christina Drevinge, Ismena Mardani, Knut T Dalen, Marcus Ståhlman, Martina Klevstig, Annika Lundqvist, Fred Haugen, Martin Adiels, Per Fogelstrand, Jorge Asin-Cayuela, Lillemor Mattsson Hultén, Max Levin, Ewa Ehrenborg, Yun K Lee, Alan R Kimmel, Jan Borén, Malin C Levin
Myocardial triglycerides stored in lipid droplets are important in regulating the intracellular delivery of fatty acids for energy generation in mitochondria, for membrane biosynthesis, and as agonists for intracellular signaling. Previously, we showed that deficiency in the lipid droplet protein perilipin 5 (Plin5) markedly reduces triglyceride storage in cardiomyocytes and increases the flux of fatty acids into phospholipids. Here, we investigated whether Plin5 deficiency in cardiomyocytes alters mitochondrial function...
August 12, 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28811196/inhibitions-of-pkc-and-camk-ii-synergistically-rescue-ischemia-induced-astrocytic-dysfunction
#18
Zhan Liu, Ying Huang, Lina Liu, Li Zhang
Ischemic neuronal death is presumably caused by glutamate-induced excitotoxicity, in which the increased glutamate release and impaired glutamate reuptake lead to glutamate accumulation. Mechanisms underlying the ischemic deficiency of astrocytic glutamate reuptake remain unclear, which we have studied by analyzing the effect of calmodulin-dependent protein kinase II (CaMK-II) and protein kinase C (PKC) inhibitions on astrocytic glutamate transporter during ischemia. Glutamate transporter current was recorded on the astrocytes in cortical slices...
August 12, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28810265/viral-retinopathy-in-experimental-models-of-zika-infection
#19
Zhenyang Zhao, Matthew Yang, Sasha R Azar, Lynn Soong, Scott C Weaver, Jiaren Sun, Yan Chen, Shannan L Rossi, Jiyang Cai
Purpose: Emerging evidence has shown that both congenital and adult Zika virus (ZIKV) infection can cause eye diseases. The goals of the current study were to explore mechanisms and pathophysiology of ZIKV-induced eye defects. Methods: Wild-type or A129 interferon type I receptor-deficient mice were infected by either FSS13025 or Mex1-7 strain of ZIKV. Retinal histopathology was measured at different time points after infection. The presence of viral RNA and protein in the retina was determined by in situ hybridization and immunofluorescence staining, respectively...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28808321/the-proteasome-deubiquitinase-inhibitor-b-ap15-enhances-dr5-activation-induced-apoptosis-through-stabilizing-dr5
#20
You-Take Oh, Liang Deng, Jiusheng Deng, Shi-Yong Sun
b-AP15 and its derivatives block proteasome deubiquitinase (DUB) activity and have been developed and tested in the clinic as potential cancer therapeutic agents. b-AP15 induces apoptosis in cancer cells, but the underlying mechanisms are largely undefined. The current study focuses on studying the modulatory effects of b-AP15 on death receptor 5 (DR5) levels and DR5 activation-induced apoptosis as well as on understanding the underlying mechanisms. Treatment with b-AP15 potently increased DR5 levels including cell surface DR5 in different cancer cell lines with limited or no effects on the levels of other related proteins including DR4, c-FLIP, FADD, and caspase-8...
August 14, 2017: Scientific Reports
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