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Glucose transporter deficiency

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https://www.readbyqxmd.com/read/29430161/predicting-seizure-by-modeling-synaptic-plasticity-based-on-eeg-signals-a-case-study-of-inherited-epilepsy
#1
Honghui Zhang, Jianzhong Su, Qingyun Wang, Yueming Liu, Levi Good, Juan Pascual
This paper explores the internal dynamical mechanisms of epileptic seizures through quantitative modeling based on full brain electroencephalogram (EEG) signals. Our goal is to provide seizure prediction and facilitate treatment for epileptic patients. Motivated by an earlier mathematical model with incorporated synaptic plasticity, we studied the nonlinear dynamics of inherited seizures through a differential equation model. First, driven by a set of clinical inherited electroencephalogram data recorded from a patient with diagnosed Glucose Transporter Deficiency, we developed a dynamic seizure model on a system of ordinary differential equations...
March 2018: Communications in Nonlinear Science & Numerical Simulation
https://www.readbyqxmd.com/read/29410350/novel-phytopeptide-osmotin-mimics-preventive-effects-of-adiponectin-on-vascular-inflammation-and-atherosclerosis
#2
Yui Takahashi, Rena Watanabe, Yuki Sato, Nana Ozawa, Miho Kojima, Kaho Watanabe-Kominato, Remina Shirai, Kengo Sato, Tsutomu Hirano, Takuya Watanabe
INTRODUCTION: The novel phytohormone, osmotin, has been reported to act like mammalian adiponectin through PHO36/AdipoR1 in various in vitro and in vivo models. However, there have been no reports regarding the precise effects of osmotin on atherosclerosis. METHODS: We assessed the atheroprotective effects of osmotin on inflammatory molecules in human umbilical vein endothelial cells (HUVECs), human leukemic monocyte (THP-1) adhesion, inflammatory responses, and foam cell formation in THP-1-derived macrophages, and the migration, proliferation, and extracellular matrix expression in human aortic smooth muscle cells (HASMCs)...
February 1, 2018: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29386308/effects-of-oral-paricalcitol-and-calcitriol-treatment-on-peritoneal-membrane-characteristics-of-peritoneal-dialysis-patients-a-pilot-study
#3
Karima Farhat, Andrea W Stavenuiter, Marc Vervloet, Pieter M Ter Wee, Robert H Beelen, Frans J van Ittersum
BACKGROUND: Long-term peritoneal dialysis (PD) is frequently complicated by technique failure preceded by peritoneal remodeling. Vitamin D has potent immunomodulatory characteristics: anti-inflammatory, anti-angiogenic, anti-fibrotic properties, and influences on the macrophage phenotype. Little is known about the relation between pleiotropic effects attributed to vitamin D3 and the peritoneal membrane and what is the most appropriate vitamin D sterol in prevention of peritoneal remodeling in PD patients...
January 31, 2018: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
https://www.readbyqxmd.com/read/29370345/sucrose-supply-from-leaves-is-required-for-aerenchymatous-phellem-formation-in-hypocotyl-of-soybean-under-waterlogged-conditions
#4
Hirokazu Takahashi, Qi Xiaohua, Satoshi Shimamura, Asako Yanagawa, Susumu Hiraga, Mikio Nakazono
Background and Aims: Soil waterlogging often causes oxygen deficiency in the root systems of plants and severely inhibits plant growth. Formation of aerenchyma - interconnected spaces that facilitate the movement of gases between and within the aerial and submerged parts of plants - is an adaptive trait for coping with waterlogged conditions. Soybean (Glycine max) forms porous secondary tissues known as aerenchymatous phellem (AP), which are derived from the outermost cell layer of phellogen...
January 23, 2018: Annals of Botany
https://www.readbyqxmd.com/read/29353241/inhibition-of-endothelial-notch-signaling-impairs-fatty-acid-transport-and-leads-to-metabolic-and-vascular-remodeling-of-the-adult-heart
#5
Markus Jabs, Adam J Rose, Lorenz H Lehmann, Jacqueline Taylor, Iris Moll, Tjeerd P Sijmonsma, Stefanie E Herberich, Sven W Sauer, Gernot Poschet, Giuseppina Federico, Carolin Mogler, Eva-Maria Weis, Hellmut G Augustin, Minhong Yan, Norbert Gretz, Roland M Schmid, Ralf H Adams, Hermann-Joseph Gröne, Rüdiger Hell, Jürgen G Okun, Johannes Backs, Peter P Nawroth, Stephan Herzig, Andreas Fischer
Background -Nutrients are transported through endothelial cells before being metabolized in muscle cells. However, little is known about the regulation of endothelial transport processes. Notch signaling is a critical regulator of metabolism and angiogenesis during development. Here, we studied how genetic and pharmacological manipulation of endothelial Notch signaling in adult mice affects endothelial fatty acid transport, cardiac angiogenesis, and heart function. Methods -Endothelial-specific Notch inhibition was achieved by conditional genetic inactivation of Rbp-jκ in adult mice to analyze fatty acid metabolism and heart function...
January 20, 2018: Circulation
https://www.readbyqxmd.com/read/29331868/zinc-supplementation-alleviates-the-progression-of-diabetic-nephropathy-by-inhibiting-the-overexpression-of-oxidative-stress-mediated-molecular-markers-in-streptozotocin-induced-experimental-rats
#6
Susmita Barman, Seetur R Pradeep, Krishnapura Srinivasan
Zinc deficiency during diabetes projects a role for zinc nutrition in the management of diabetic nephropathy. The current study explored whether zinc supplementation protects against diabetic nephropathy through modulation of kidney oxidative stress and stress-induced expression related to the inflammatory process in streptozotocin-induced diabetic rats. Groups of hyperglycemic rats were exposed to dietary interventions for 6 weeks with zinc supplementation (5 times and 10 times the normal level). Supplemental-zinc-fed diabetic groups showed a significant reversal of increased kidney weight and creatinine clearance...
December 11, 2017: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/29317531/melanocortin-overexpression-limits-diet-induced-inflammation-and-atherosclerosis-in-ldlr-mice
#7
Salla Nuutinen, Liisa Ailanen, Eriika Savontaus, Petteri Rinne
Atherosclerosis is a chronic inflammatory disease of the arteries. The disease is initiated by endothelial dysfunction that allows the transport of leukocytes and low-density lipoprotein into the vessel wall forming atherosclerotic plaques. The melanocortin system is an endogenous peptide system that regulates, for example, energy homeostasis and cardiovascular function. Melanocortin treatment with endogenous or synthetic melanocortin peptides reduces body weight, protects the endothelium and alleviates vascular inflammation, but the long-term effects of melanocortin system activation on atheroprogression remain largely unknown...
January 9, 2018: Journal of Endocrinology
https://www.readbyqxmd.com/read/29307699/questionnaire-survey-on-the-current-status-of-ketogenic-diet-therapy-in-patients-with-glucose-transporter-1-deficiency-syndrome-glut1ds-in-japan
#8
Hirokazu Oguni, Yasushi Ito, Yui Otani, Satoru Nagata
OBJECTIVES: We conducted a questionnaire survey on the efficacy and side effects of ketogenic diet (KD) therapy in patients with glucose transporter 1 deficiency syndrome (GLUT1DS) as well as issues associated with long-term KD therapy from the viewpoint of patients' families. SUBJECTS AND METHODS: The subjects were 34 patients whose ages at the time of the survey ranged between 2 and 50 years (median, 11 years). The ages at the diagnosis ranged between 3 months and 48 years and 5 months (median, 4 years and 10 months), and KD therapy was started within 5 months in all patients...
December 26, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29303961/individualizing-treatment-approaches-for-epileptic-patients-with-glucose-transporter-type1-glut-1-deficiency
#9
REVIEW
Armond Daci, Adnan Bozalija, Fisnik Jashari, Shaip Krasniqi
Monogenic and polygenic mutations are important contributors in patients suffering from epilepsy, including metabolic epilepsies which are inborn errors of metabolism with a good respond to specific dietetic treatments. Heterozygous variation in solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1) and mutations of the GLUT1/SLC2A2 gene results in the failure of glucose transport, which is related with a glucose type-1 transporter (GLUT1) deficiency syndrome (GLUT1DS). GLUT1 deficiency syndrome is a treatable disorder of glucose transport into the brain caused by a variety of mutations in the SLC2A1 gene which are the cause of different neurological disorders also with different types of epilepsy and related clinical phenotypes...
January 5, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29285794/glial-lipid-droplets-and-neurodegeneration-in-a-drosophila-model-of-complex-i-deficiency
#10
Marie-Jeanne Cabirol-Pol, Bilal Khalil, Thomas Rival, Catherine Faivre-Sarrailh, Marie Thérèse Besson
Mitochondrial defects associated with respiratory chain complex I deficiency lead to heterogeneous fatal syndromes. While the role of NDUFS8, an essential subunit of the core assembly of the complex I, is established in mitochondrial diseases, the mechanisms underlying neuropathology are poorly understood. We developed a Drosophila model of NDUFS8 deficiency by knocking down the expression of its fly homologue in neurons or in glial cells. Downregulating ND23 in neurons resulted in shortened lifespan, and decreased locomotion...
December 29, 2017: Glia
https://www.readbyqxmd.com/read/29244233/inadequate-brain-glycogen-or-sleep-increases-spreading-depression-susceptibility
#11
Kivilcim Kilic, Hulya Karatas, Buket Donmez-Demir, Emine Eren-Kocak, Yasemin Gursoy-Ozdemir, Alp Can, Jean-Marie Petit, Pierre J Magistretti, Turgay Dalkara
OBJECTIVE: Glycogen in astrocyte endfeet contributes to maintenance of low extracellular glutamate and K+ concentrations around synapses. Sleep deprivation (SD), a common migraine trigger induces transcriptional changes in astrocytes reducing glycogen breakdown. We hypothesize that when glycogen utilization cannot match synaptic energy demand, extracellular K+ can rise to levels that activate neuronal pannexin-1 channels and downstream inflammatory pathway, which might be one of the mechanisms initiating migraine headaches...
December 15, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29216217/the-emerging-role-of-asc-in-dendritic-cell-metabolism-during-chlamydia-infection
#12
Danielle N McKeithen, Yusuf O Omosun, Khamia Ryans, Jing Mu, Zhonglin Xie, Tankya Simoneaux, Uriel Blas-Machado, Francis O Eko, Carolyn M Black, Joseph U Igietseme, Qing He
Chlamydia trachomatis is a bacterial agent that causes sexually transmitted infections worldwide. The regulatory functions of dendritic cells (DCs) play a major role in protective immunity against Chlamydia infections. Here, we investigated the role of ASC in DCs metabolism and the regulation of DCs activation and function during Chlamydia infection. Following Chlamydia stimulation, maturation and antigen presenting functions were impaired in ASC-/- DCs compared to wild type (WT) DCs, in addition, ASC deficiency induced a tolerant phenotype in Chlamydia stimulated DCs...
2017: PloS One
https://www.readbyqxmd.com/read/29205673/mechanisms-of-ampk-in-the-maintenance-of-atp-balance-during-energy-metabolism
#13
REVIEW
Rong Ke, Qicao Xu, Cong Li, Lingyu Luo, Deqiang Huang
AMP-activated protein kinase (AMPK) is a conserved sensor of cellular energy change and is activated by increased AMP/ATP and/or ADP/ATP ratios. AMPK maintains the energy balance by decreasing the ATP-consuming processes such as transcription of synthetic fat genes and rRNA, the translation of ribosomal proteins, synthesis of cholesterol and fatty acid, while the metabolic pathways such as glucose and fatty transport, fatty acid oxidation, autophagy, mitochondrial synthesis and oxidative metabolism are increased to preserve ATP during energy deficiency...
December 4, 2017: Cell Biology International
https://www.readbyqxmd.com/read/29199027/10-patients-10-years-long-term-follow-up-of-cardiovascular-risk-factors-in-glut1-deficiency-treated-with-ketogenic-diet-therapies-a%C3%A2-prospective-multicenter-case-series
#14
Nicole Heussinger, Adela Della Marina, Andreas Beyerlein, Baerbel Leiendecker, Sofia Hermann-Alves, Robert Dalla Pozza, Joerg Klepper
BACKGROUND AND AIMS: Glut1 Deficiency (Glut1D) is caused by impaired glucose transport into brain. The resulting epileptic encephalopathy and movement disorders can be treated effectively by high-fat carbohydrate-restricted ketogenic diet therapies (KDT) mimicking fasting and providing ketones as an alternative cerebral fuel. Recently 6-24 months follow-ups of epileptic patients reported elevated blood lipids and intima thickening of the carotid artery raising concerns about potential cardiovascular risks by KDT...
November 11, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/29144225/prevalence-of-genetic-disorders-and-glut1-deficiency-in-a-ketogenic-diet-clinic
#15
Stacy Hewson, Ledia Brunga, Matilde Fernandez Ojeda, Elizabeth Imhof, Jaina Patel, Maria Zak, Elizabeth J Donner, Jeff Kobayashi, Gajja S Salomons, Saadet Mercimek-Andrews
Between July of 2012 and December of 2014, 39 patients were enrolled prospectively to investigate the prevalence of glucose transporter 1 (GLUT1) deficiency in a ketogenic diet clinic. None of them had GLUT1 deficiency. All patients seen in the same clinic within the same period were reviewed retrospectively. A total of 18 of these 85 patients had a genetic diagnosis, including GLUT1 deficiency, pathogenic copy number variants, congenital disorder of glycosylation, neuronal ceroid lipofuscinosis type II, mitochondrial disorders, tuberous sclerosis, lissencephaly, and SCN1A-, SCN8A-, and STXBP1-associated epileptic encephalopathies...
November 16, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29134558/development-of-hyperkalemia-following-treatment-with-dapagliflozin-dapa-in-a-patient-with-type-2-diabetes-after-bilateral-adrenalectomy
#16
Daichi Miyaoka, Akihiro Tsuda, Noriyuki Hayashi, Norikazu Toi, Akiyo Yamasaki, Yuki Nagata, Shinya Nakatani, Masafumi Kurajoh, Shinsuke Yamada, Tomoaki Morioka, Yasuo Imanishi, Masanori Emoto, Masaaki Inaba
Dapagliflozin (DAPA), a sodium-glucose co-transporter 2 (SGLT2) inhibitor, is known to have a beneficial diuretic effect, in addition to a glucose-lowering effect. Although SGLT2 inhibitor has been reported, the increase of hyperkalemia in patients treated with renin-angiotensin-aldosterone system (RAAS) inhibitors, their mechanism of action is unclear. We report the first case of a type 2 diabetes (T2DM) patient with potential mineralocorticoid deficiency who developed hyperkalemia after administration of DAPA...
November 13, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/29133412/cell-autonomous-adiposity-through-increased-cell-surface-glut4-due-to-ankyrin-b-deficiency
#17
Damaris N Lorenzo, Vann Bennett
Obesity typically is linked to caloric imbalance as a result of overnutrition. Here we propose a cell-autonomous mechanism for adiposity as a result of persistent cell surface glucose transporter type 4 (GLUT4) in adipocytes resulting from impaired function of ankyrin-B (AnkB) in coupling GLUT4 to clathrin-mediated endocytosis. Adipose tissue-specific AnkB-KO mice develop obesity and progressive pancreatic islet dysfunction with age or high-fat diet (HFD). AnkB-deficient adipocytes exhibit increased lipid accumulation associated with increased glucose uptake and impaired endocytosis of GLUT4...
November 13, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29111970/complementation-of-a-metk-deficient-e-coli-strain-with-heterologous-adomet-synthetase-genes
#18
Gwenn G Parungao, Mojun Zhao, Qinzhe Wang, Stephen P Zano, Ronald E Viola, Robert M Blumenthal
S-adenosyl-l-methionine (AdoMet) is an essential metabolite, playing a wide variety of metabolic roles. The enzyme that produces AdoMet from l-methionine and ATP (methionine adenosyltransferase, MAT) is thus an attractive target for anti-cancer and antimicrobial agents. It would be very useful to have a system that allows rapid identification of species-specific inhibitors of this essential enzyme. A previously generated E. coli strain, lacking MAT (∆metK) but containing a heterologous AdoMet transporter, was successfully complemented with heterologous metK genes from several bacterial pathogens, as well as with MAT genes from a fungal pathogen and Homo sapiens...
November 7, 2017: Microbiology
https://www.readbyqxmd.com/read/29091932/essential-roles-of-aspartate-aminotransferase-1-and-vesicular-glutamate-transporters-in-%C3%AE-cell-glutamate-signaling-for-incretin-induced-insulin-secretion
#19
Naoya Murao, Norihide Yokoi, Kohei Honda, Guirong Han, Tomohide Hayami, Ghupurjan Gheni, Harumi Takahashi, Kohtaro Minami, Susumu Seino
Incretins (GLP-1 and GIP) potentiate insulin secretion through cAMP signaling in pancreatic β-cells in a glucose-dependent manner. We recently proposed a mechanistic model of incretin-induced insulin secretion (IIIS) that requires two critical processes: 1) generation of cytosolic glutamate through the malate-aspartate (MA) shuttle in glucose metabolism and 2) glutamate transport into insulin granules by cAMP signaling to promote insulin granule exocytosis. To directly prove the model, we have established and characterized CRISPR/Cas9-engineered clonal mouse β-cell lines deficient for the genes critical in these two processes: aspartate aminotransferase 1 (AST1, gene symbol Got1), a key enzyme in the MA shuttle, which generates cytosolic glutamate, and the vesicular glutamate transporters (VGLUT1, VGLUT2, and VGLUT3, gene symbol Slc17a7, Slc17a6, and Slc17a8, respectively), which participate in glutamate transport into secretory vesicles...
2017: PloS One
https://www.readbyqxmd.com/read/29077094/non-oncogenic-roles-of-tap73-from-multiciliogenesis-to-metabolism
#20
REVIEW
Alice Nemajerova, Ivano Amelio, Jakob Gebel, Volker Dötsch, Gerry Melino, Ute M Moll
The p53 family of transcription factors (p53, p63 and p73) covers a wide range of functions critical for development, homeostasis and health of mammals across their lifespan. Beside the well-established tumor suppressor role, recent evidence has highlighted novel non-oncogenic functions exerted by p73. In particular, p73 is required for multiciliated cell (MCC) differentiation; MCCs have critical roles in brain and airways to move fluids across epithelial surfaces and to transport germ cells in the reproductive tract...
October 27, 2017: Cell Death and Differentiation
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