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Glucose transporter deficiency

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https://www.readbyqxmd.com/read/29669261/chrebp-deficiency-leads-to-diarrhea-predominant-irritable-bowel-syndrome
#1
Ah-Reum Oh, Seonyong Sohn, Junghoon Lee, Jong-Min Park, Ki Taek Nam, Ki-Baik Hahm, Young-Bum Kim, Ho-Jae Lee, Ji-Young Cha
OBJECTIVE: Fructose malabsorption is a common digestive disorder in which absorption of fructose in the small intestine is impaired. An abnormality of the main intestinal fructose transporter proteins has been proposed as a cause for fructose malabsorption. However the underlying molecular mechanism for this remains unclear. In this study, we investigated whether carbohydrate response element-binding protein (ChREBP) plays a role in intestinal fructose absorption through the regulation of genes involved in fructose transport and metabolism and ion transport...
April 15, 2018: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29663270/molecular-biology-and-gene-therapy-for-glycogen-storage-disease-type-ib
#2
Janice Y Chou, Jun-Ho Cho, Goo-Young Kim, Brian C Mansfield
Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the ubiquitously expressed glucose-6-phosphate (G6P) transporter (G6PT or SLC37A4). The primary function of G6PT is to translocate G6P from the cytoplasm into the lumen of the endoplasmic reticulum (ER). Inside the ER, G6P is hydrolyzed to glucose and phosphate by either the liver/kidney/intestine-restricted glucose-6-phosphatase-α (G6Pase-α) or the ubiquitously expressed G6Pase-β. A deficiency in G6Pase-α causes GSD type Ia (GSD-Ia) and a deficiency in G6Pase-β causes GSD-I-related syndrome (GSD-Irs)...
April 16, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29662201/differential-glucose-requirement-in-skin-homeostasis-and-injury-identifies-a-therapeutic-target-for-psoriasis
#3
Zhuzhen Zhang, Zhenzhen Zi, Eunice E Lee, Jiawei Zhao, Diana C Contreras, Andrew P South, E Dale Abel, Benjamin F Chong, Travis Vandergriff, Gregory A Hosler, Philipp E Scherer, Marcel Mettlen, Jeffrey C Rathmell, Ralph J DeBerardinis, Richard C Wang
Proliferating cells, compared with quiescent cells, are more dependent on glucose for their growth. Although glucose transport in keratinocytes is mediated largely by the Glut1 facilitative transporter, we found that keratinocyte-specific ablation of Glut1 did not compromise mouse skin development and homeostasis. Ex vivo metabolic profiling revealed altered sphingolipid, hexose, amino acid, and nucleotide metabolism in Glut1-deficient keratinocytes, thus suggesting metabolic adaptation. However, cultured Glut1-deficient keratinocytes displayed metabolic and oxidative stress and impaired proliferation...
April 16, 2018: Nature Medicine
https://www.readbyqxmd.com/read/29659960/obese-mice-losing-weight-due-to-trans-10-cis-12-conjugated-linoleic-acid-supplementation-or-food-restriction-harbor-distinct-gut-microbiota
#4
Laura J den Hartigh, Zhan Gao, Leela Goodspeed, Shari Wang, Arun K Das, Charles F Burant, Alan Chait, Martin J Blaser
Background: trans-10,cis-12 Conjugated linoleic acid (t10,c12-CLA) is a dietary supplement that promotes weight loss by increasing fat oxidation and energy expenditure. We previously reported that in the absence of t10,c12-CLA, mice forced to lose equivalent body weight by food restriction (FR) do not exhibit increases in fat oxidation or energy expenditure but have improved glucose metabolism, consistent with FR as a metabolically healthy weight-loss method. Objective: Because diet is a primary determinant of gut bacterial populations, we hypothesized that the disparate metabolic effects accompanying weight loss from t10,c12-CLA or FR could be related to altered intestinal microbiota...
April 1, 2018: Journal of Nutrition
https://www.readbyqxmd.com/read/29659562/organic-cation-transporter-1-oct1-modulates-multiple-cardiometabolic-traits-through-effects-on-hepatic-thiamine-content
#5
Xiaomin Liang, Sook Wah Yee, Huan-Chieh Chien, Eugene C Chen, Qi Luo, Ling Zou, Meiling Piao, Arias Mifune, Ligong Chen, Meredith E Calvert, Sarah King, Frode Norheim, Janna Abad, Ronald M Krauss, Kathleen M Giacomini
A constellation of metabolic disorders, including obesity, dysregulated lipids, and elevations in blood glucose levels, has been associated with cardiovascular disease and diabetes. Analysis of data from recently published genome-wide association studies (GWAS) demonstrated that reduced-function polymorphisms in the organic cation transporter, OCT1 (SLC22A1), are significantly associated with higher total cholesterol, low-density lipoprotein (LDL) cholesterol, and triglyceride (TG) levels and an increased risk for type 2 diabetes mellitus, yet the mechanism linking OCT1 to these metabolic traits remains puzzling...
April 16, 2018: PLoS Biology
https://www.readbyqxmd.com/read/29649689/high-fat-diet-alters-pas-kinase-regulation-by-fasting-and-feeding-in-liver
#6
Ana Pérez-García, Pilar Dongil, Verónica Hurtado-Carneiro, Enrique Blázquez, Carmen Sanz, Elvira Álvarez
The prevalence of overweight and obesity in the population, along with their associated complications, is a major factor contributing to increased morbidity and mortality in developed countries. The liver is a vital organ for maintaining metabolic homeostasis, especially in the adjustment periods in fasting and feeding. Per-Arnt-Sim (PAS) kinase (PASK) controls glucose homeostasis and energy metabolism in response to nutritional status. PASK-deficient mice with a high-fat diet (HFD) resist the development of obesity and hepatic steatosis, with improved insulin sensitivity...
March 12, 2018: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/29624790/gene-therapy-for-glut1-deficient-mouse-using-an-adeno-associated-virus-vector-with-the-human-intrinsic-glut1-promoter
#7
Sachie Nakamura, Shin-Ichi Muramatsu, Naomi Takino, Mika Ito, Eriko F Jimbo, Kuniko Shimazaki, Tatsushi Onaka, Sumio Ohtsuki, Tetsuya Terasaki, Takanori Yamagata, Hitoshi Osaka
BACKGROUND: We generated an adeno-associated virus (AAV) vector in which the human SLC2A1 gene, encoding glucose transporter type 1 (GLUT1), was expressed under the human endogenous GLUT1 promoter (AAV-GLUT1). We examined whether AAV-GLUT1 administration could lead to functional improvement in GLUT1-deficient mice. METHODS: We extrapolated human endogenous GLUT1 promoter sequences from rat minimal Glut1 promoter sequences. We generated a tyrosine-mutant AAV9/3 vector in which human SLC2A1-myc-DDK was expressed under the human GLUT1 promoter (AAV-GLUT1)...
April 6, 2018: Journal of Gene Medicine
https://www.readbyqxmd.com/read/29623822/mass-spectrometric-analysis-of-proteins-of-l6-skeletal-muscle-cells-under-different-glucose-conditions-and-vitamin-d-supplementation
#8
Priyadarshini, Nancy Taneja
Protein expression during the exposure of the cells to different glucose concentrations may alter and can give vital information about the pathogenesis of T2D. Vitamin D deficiency is associated with various diseases and its supplementation can improve the diseased state. L6 skeletal muscle cells were exposed to different glucose (G) concentrations (0mM, 8mM, 16mM and 25mM) supplemented with vitamin D (VD) for 48 hours. Three distinct bands observed in SDS-PAGE in samples obtained from cells which were exposed to 8mM (G), 8mM (G) + VD and 16mM (G)...
April 6, 2018: Protein and Peptide Letters
https://www.readbyqxmd.com/read/29619544/effect-of-glycation-on-human-serum-albumin-zinc-interaction-a-biophysical-study
#9
Sarah Iqbal, Faizan Abul Qais, Md Maroof Alam, Imrana Naseem
Zinc deficiency is common in diabetes. However, the cause of this phenomenon is largely unknown. 80% of the absorbed zinc is transported through the blood in association with human serum albumin (HSA). Under persistent hyperglycemia, HSA frequently undergoes non-enzymatic glycation which can affect its structure and metal-binding function. Hence, in this study, we have examined the interaction of zinc with native and glycated HSA. The protein samples were incubated either in the presence or in the absence of physiologically elevated glucose concentration for 21 days...
April 4, 2018: Journal of Biological Inorganic Chemistry: JBIC
https://www.readbyqxmd.com/read/29617673/mitochondrial-complex-i-inhibitors-expose-a-vulnerability-for-selective-killing-of-pten-null-cells
#10
Adam Naguib, Grinu Mathew, Colleen R Reczek, Kaitlin Watrud, Alexandra Ambrico, Tali Herzka, Irene Casanova Salas, Matthew F Lee, Nour El-Amine, Wu Zheng, M Emilia Di Francesco, Joseph R Marszalek, Darryl J Pappin, Navdeep S Chandel, Lloyd C Trotman
A hallmark of advanced prostate cancer (PC) is the concomitant loss of PTEN and p53 function. To selectively eliminate such cells, we screened cytotoxic compounds on Pten-/- ;Trp53-/- fibroblasts and their Pten-WT reference. Highly selective killing of Pten-null cells can be achieved by deguelin, a natural insecticide. Deguelin eliminates Pten-deficient cells through inhibition of mitochondrial complex I (CI). Five hundred-fold higher drug doses are needed to obtain the same killing of Pten-WT cells, even though deguelin blocks their electron transport chain equally well...
April 3, 2018: Cell Reports
https://www.readbyqxmd.com/read/29614440/effect-of-phosphate-nutrition-on-growth-physiology-and-phosphate-transporter-expression-of-cucumber-seedlings
#11
Zakira Naureen, Arjun Sham, Hibatullah Al Ashram, Syed A Gilani, Salma Al Gheilani, Fazal Mabood, Javid Hussain, Ahmed Al Harrasi, Synan F AbuQamar
Although abundantly present in soils, inorganic phosphate (Pi) acquisition by plants is highly dependent on the transmembrane phosphate transporter (PT) gene family. Cucumber (Cucumis sativus) requires a large amount of phosphorus (P). The purpose of this study was to isolate the CsPT2-1 from cucumber roots, and to determine the influence of Pi nutrition on cucumber growth, metabolism and transcript levels of CsPT2-1 in tissues. Full length CsPT2-1 was cloned and phylogenetically identified. In two greenhouse experiments, P-deficient seedlings provided with low or high P concentrations were sampled at 10 and 21 days post treatment, respectively...
March 26, 2018: Plant Physiology and Biochemistry: PPB
https://www.readbyqxmd.com/read/29605633/peroxiredoxin-2-mediates-insulin-sensitivity-of-skeletal-muscles-through-regulation-of-protein-tyrosine-phosphatase-oxidation
#12
Jung-Hak Kim, Sun-Ji Park, Unbin Chae, Joongbae Seong, Hyun-Shik Lee, Sang-Rae Lee, Seunghoon Lee, Dong-Seok Lee
Insulin signaling is essential for regulating glucose homeostasis. Numerous studies have demonstrated that reactive oxygen species (ROS) affect insulin signaling, and low ROS levels can act as a signal to regulate cellular function. Peroxiredoxins (Prxs) are highly abundant and widely expressed antioxidant enzymes. However, it is unclear whether antioxidant enzymes, such as Prx2, mediate insulin signaling. The aim of our study was to investigate the influence of Prx2 deficiency on insulin signaling. Our western blot results showed that Prx2 deficiency enhanced insulin signaling and increased oxidation of protein tyrosine phosphatase 1B (PTP1B) and phosphatase and tensin homologue (PTEN) in mouse embryonic fibroblasts (MEFs) treated with insulin...
March 29, 2018: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/29603749/the-gene-pbtmt4-from-pear-pyrus-bretschneideri-mediates-vacuolar-sugar-transport-and-strongly-affects-sugar-accumulation-in-fruit
#13
Rui Cheng, Yinsheng Cheng, Jiahong Lü, Jianqiu Chen, Yingzhen Wang, Shaoling Zhang, Huping Zhang
Tonoplast monosaccharide transporters (TMT) play important roles in vacuolar sugar accumulation in plants. In this study, six TMT genes (PbTMT1-6) were identified in the Pyrus bretschneideri genome database, and their expression profiles were correlated with soluble sugar contents during thepear (P. bretschneideri cv. Ya Li) fruit development process. Subsequently, PbTMT4 was identified as a strong contributor tofructose, glucose, and sucrose accumulation in fructescence of pears. Heterologous expression of PbTMT4, in the hexose transporter-deficient yeast strain EBY...
March 30, 2018: Physiologia Plantarum
https://www.readbyqxmd.com/read/29587416/knocking-down-insulin-receptor-in-pancreatic-beta-cell-lines-with-lentiviral-small-hairpin-rna-reduces-glucose-stimulated-insulin-secretion-via-decreasing-the-gene-expression-of-insulin-glut2-and-pdx1
#14
Jie Wang, Wenyi Gu, Chen Chen
Type 2 diabetes (T2D) is a metabolic disorder characterized by beta cell dysfunction and insulin resistance in fat, muscle and liver cells. Recent studies have shown that the development of insulin resistance in pancreatic beta cell lines may contribute to beta cell dysfunction in T2D. However, there still is a lack of detailed investigations regarding the mechanisms by which insulin deficiency may contribute in diabetes. In this study, we firstly established a stable insulin receptor knockdown cell line in pancreatic beta cells INS-1 (InsRβKD cells) using anti InsRβ small hairpin RNA (InsRβ-shRNA) encoded by lentiviral vectors...
March 26, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29576889/recent-development-and-gene-therapy-for-glycogen-storage-disease-type-ia
#15
Janice Y Chou, Goo-Young Kim, Jun-Ho Cho
Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC) that is expressed primarily in the liver, kidney, and intestine. G6Pase-α catalyzes the hydrolysis of glucose-6-phosphate (G6P) to glucose and phosphate in the terminal step of gluconeogenesis and glycogenolysis, and is a key enzyme for endogenous glucose production. The active site of G6Pase-α is inside the endoplasmic reticulum (ER) lumen. For catalysis, the substrate G6P must be translocated from the cytoplasm into the ER lumen by a G6P transporter (G6PT)...
September 2017: Liver Research
https://www.readbyqxmd.com/read/29563966/the-penicillium-chrysogenum-transporter-pc-arat-enables-high-affinity-glucose-insensitive-l-arabinose-transport-in-saccharomyces-cerevisiae
#16
Jasmine M Bracher, Maarten D Verhoeven, H Wouter Wisselink, Barbara Crimi, Jeroen G Nijland, Arnold J M Driessen, Paul Klaassen, Antonius J A van Maris, Jean-Marc G Daran, Jack T Pronk
Background: l-Arabinose occurs at economically relevant levels in lignocellulosic hydrolysates. Its low-affinity uptake via the Saccharomyces cerevisiae Gal2 galactose transporter is inhibited by d-glucose. Especially at low concentrations of l-arabinose, uptake is an important rate-controlling step in the complete conversion of these feedstocks by engineered pentose-metabolizing S. cerevisiae strains. Results: Chemostat-based transcriptome analysis yielded 16 putative sugar transporter genes in the filamentous fungus Penicillium chrysogenum whose transcript levels were at least threefold higher in l-arabinose-limited cultures than in d-glucose-limited and ethanol-limited cultures...
2018: Biotechnology for Biofuels
https://www.readbyqxmd.com/read/29530121/-glucose-transporter-1-deficiency-syndrome-features-of-movement-disorders-diagnosis-and-treatment
#17
Xin-Na Ji, Cui-Juan Xu, Zhi-Jie Gao, Shu-Hua Chen, Ke-Ming Xu, Qian Chen
OBJECTIVE: To investigate the clinical features, diagnosis and treatment of glucose transporter 1 deficiency syndrome (GLUT1-DS), as well as the diagnostic value of movement disorders. METHODS: The clinical data of four children with GLUT1-DS were collected, and their clinical features, treatment, and follow-up results were analyzed. RESULTS: There were two boys and two girls, with an age of onset of 2-15 months. Clinical manifestations included movement disorders, seizures, and developmental retardation...
March 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29527004/microrna-155-positively-regulates-glucose-metabolism-via-pik3r1-foxo3a-cmyc-axis-in-breast-cancer
#18
Sinae Kim, Eunji Lee, Jaeyun Jung, Jong Won Lee, Hee Jung Kim, Jisun Kim, Hyun Ju Yoo, Hee Jin Lee, Sun Young Chae, Sang Min Jeon, Byung Ho Son, Gyungyup Gong, Shyam K Sharan, Suhwan Chang
MicroRNA is an endogenous, small RNA controlling multiple target genes and playing roles in various biological processes including tumorigenesis. Here, we addressed the function of miR-155 using LC-MS/MS-based metabolic profiling of miR-155 deficient breast cancer cells. Our results revealed the loss of miR-155 hampers glucose uptake and glycolysis, via the down-regulation of glucose transporters and metabolic enzymes including HK2, PKM2, and LDHA. We showed this is due to the down-regulation of cMYC, controlled through phosphoinositide-3-kinase regulatory subunit alpha (PIK3R1)-PDK1/AKT-FOXO3a pathway...
March 12, 2018: Oncogene
https://www.readbyqxmd.com/read/29524103/the-benefits-of-a-neurogenetics-clinic-in-an-adult-academic-teaching-hospital
#19
Diana A Olszewska, Terri McVeigh, Emer M Fallon, Gregory M Pastores, Tim Lynch
Genetics is the backbone of Neurology, where a number of disorders have a genetic aetiology and are complex, requiring a dedicated Neurogenetics clinic. Genetics in the Republic of Ireland is under-resourced, with the lowest number of consultants per million of population in Europe. In November 2014, we established the monthly adult Neurogenetics clinic in Ireland, staffed by 2 consultants and 2 registrars from each speciality. We see patients with complex rare neurological conditions that may potentially have an underlying genetic basis, in the presence or absence of a family history...
March 9, 2018: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/29522772/impaired-brain-energy-gain-upon-a-glucose-load-in-obesity
#20
Ewelina K Wardzinski, Alina Kistenmacher, Uwe H Melchert, Kamila Jauch-Chara, Kerstin M Oltmanns
BACKGROUND: There is evidence that the brain's energy status is lowered in obesity despite of chronic hypercaloric nutrition. The underlying mechanisms are unknown. We hypothesized that the brain of obese people does not appropriately generate energy in response to a hypercaloric supply. METHODS: Glucose was intravenously infused in 17 normal weights and 13 obese participants until blood glucose concentrations reached the postprandial levels of 7 mmol/L and 10 mmol/L...
March 6, 2018: Metabolism: Clinical and Experimental
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