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SLC37A4

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https://www.readbyqxmd.com/read/27066451/esophageal-stricture-secondary-to-candidiasis-in-a-child-with-glycogen-storage-disease-1b
#1
Kyung Jae Lee, Shin Jie Choi, Woo Sun Kim, Sung-Sup Park, Jin Soo Moon, Jae Sung Ko
Esophageal candidiasis is commonly seen in immunocompromised patients; however, candida esophagitis induced stricture is a very rare complication. We report the first case of esophageal stricture secondary to candidiasis in a glycogen storage disease (GSD) 1b child. The patient was diagnosed with GSD type 1b by liver biopsy. No mutation was found in the G6PC gene, but SLC37A4 gene sequencing revealed a compound heterozygous mutation (p.R28H and p.W107X, which was a novel mutation). The patient's absolute neutrophil count was continuously under 1,000/µL when he was over 6 years of age...
March 2016: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/26886260/single-gene-prognostic-biomarkers-in-ovarian-cancer-a-meta-analysis
#2
Scooter Willis, Victor M Villalobos, Olivier Gevaert, Mark Abramovitz, Casey Williams, Branimir I Sikic, Brian Leyland-Jones
PURPOSE: To discover novel prognostic biomarkers in ovarian serous carcinomas. METHODS: A meta-analysis of all single genes probes in the TCGA and HAS ovarian cohorts was performed to identify possible biomarkers using Cox regression as a continuous variable for overall survival. Genes were ranked by p-value using Stouffer's method and selected for statistical significance with a false discovery rate (FDR) <.05 using the Benjamini-Hochberg method. RESULTS: Twelve genes with high mRNA expression were prognostic of poor outcome with an FDR <...
2016: PloS One
https://www.readbyqxmd.com/read/26528718/metabolic-coupling-determines-the-activity-comparison-of-11%C3%AE-hydroxysteroid-dehydrogenase-1-and-its-coupling-between-liver-parenchymal-cells-and-testicular-leydig-cells
#3
COMPARATIVE STUDY
Xingwang Li, Guoxin Hu, Xiaoheng Li, Yi-Yan Wang, Yuan-Yuan Hu, Hongyu Zhou, Syed A Latif, David J Morris, Yanhui Chu, Zhiqiang Zheng, Ren-Shan Ge
BACKGROUND: 11β-hydroxysteroid dehydrogenase 1 (11β-HSD1) interconverts active 11β-hydroxyl glucocorticoids and inactive 11keto forms. However, its directionality is determined by availability of NADP+/NADPH. In liver cells, 11β-HSD1 behaves as a primary reductase, while in Leydig cells it acts as a primary oxidase. However, the exact mechanism is not clear. The direction of 11β-HSD1 has been proposed to be regulated by hexose-6-phosphate dehydrogenase (H6PDH), which catalyzes glucose-6-phosphate (G6P) to generate NADPH that drives 11β-HSD1 towards reduction...
2015: PloS One
https://www.readbyqxmd.com/read/26264689/dietary-carbohydrate-and-control-of-hepatic-gene-expression-mechanistic-links-from-atp-and-phosphate-ester-homeostasis-to-the-carbohydrate-response-element-binding-protein
#4
Loranne Agius
Type 2 diabetes and non-alcoholic fatty liver disease (NAFLD) are associated with elevated hepatic glucose production and fatty acid synthesis (de novo lipogenesis (DNL)). High carbohydrate diets also increase hepatic glucose production and lipogenesis. The carbohydrate-response element-binding protein (ChREBP, encoded by MLXIPL) is a transcription factor with a major role in the hepatic response to excess dietary carbohydrate. Because its target genes include pyruvate kinase (PKLR) and enzymes of lipogenesis, it is regarded as a key regulator for conversion of dietary carbohydrate to lipid for energy storage...
August 12, 2015: Proceedings of the Nutrition Society
https://www.readbyqxmd.com/read/25971127/-history-case-of-multiple-hepatic-adenomas-in-adolescent-with-severe-course-of-glycogen-storage-disease-type-lb
#5
A N Surkov, L S Namazova-Baranova, A S Potapov, K V Savost'yanov, A A Pushkov, A G Nikitin, S I Polyakova, M V Ryazanov, O V Kustova, V I Barskii, M Yu Stepanyan
We represented a case history of multiple hepatic adenomas in an adolescent with severe clinical course of glycogen storage disease type lb (compound heterozygous mutations c.1042_1043delCT and c.817G>A in the SLC37A4). The patient was prescribed a raw cornstarch and hepatoprotectors therapy, but he and his parents had low compliance to treatment. At the age of 13,5 years ultrasound investigation and computed tomography revealed multiple adenomas. Due to the severe condition of the patient it was impossible to perform focal hepatic biopsy...
2014: Vestnik Rossiĭskoĭ Akademii Meditsinskikh Nauk
https://www.readbyqxmd.com/read/25804016/glycogen-storage-disease-type-1b-an-early-onset-severe-phenotype-associated-with-a-novel-mutation-ivs4-in-the-glucose-6-phosphate-translocase-slc37a4-gene-in-a-turkish-patient
#6
M M Oguz, E Aykan, G Yilmaz, C Aytekin, K Karaer, E A Açoğlu
Glycogen storage disease type I (GSD-I) is a group of autosomal recessive disorders that include types Ia and Ib. GSD-Ib is caused by a deficiency in the glucose-6-phosphate transporter (G6PT) caused by a mutation in the SLC37A4 gene coding for G6PT. Glycogen storage disease is characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver and chronic neutropenia. Herein we describe a 4-month-old Turkish patient with early onset and severe typical clinical features of GSD-1b in which a novel mutation in the SLC37A4 gene was detected...
2014: Genetic Counseling
https://www.readbyqxmd.com/read/25447883/modulation-of-periovulatory-endocrine-profiles-in-beef-cows-consequences-for-endometrial-glucose-transporters-and-uterine-fluid-glucose-levels
#7
M R França, F S Mesquita, E Lopes, G Pugliesi, V Van Hoeck, M R Chiaratti, C B Membrive, P C Papa, M Binelli
In beef cattle, proestrus estradiol and subsequent progesterone (P4) concentrations can regulate the endometrial characteristics and thereby determine maternal receptivity toward the embryo. However, the underlying mechanisms linking periovulatory endocrine profiles to receptivity, which is crucial to obtain pregnancy, need to be elucidated. We hypothesized that the size of the preovulatory follicle (POF) and subsequent circulating P4 concentrations, during early diestrus, modulate endometrial levels of glucose transporter transcripts and proteins, and subsequently affect the luminal glucose availability in the uterus...
January 2015: Domestic Animal Endocrinology
https://www.readbyqxmd.com/read/25288127/type-i-glycogen-storage-diseases-disorders-of-the-glucose-6-phosphatase-glucose-6-phosphate-transporter-complexes
#8
REVIEW
Janice Y Chou, Hyun Sik Jun, Brian C Mansfield
Disorders of the glucose-6-phosphatase (G6Pase)/glucose-6-phosphate transporter (G6PT) complexes consist of three subtypes: glycogen storage disease type Ia (GSD-Ia), deficient in the liver/kidney/intestine-restricted G6Pase-α (or G6PC); GSD-Ib, deficient in a ubiquitously expressed G6PT (or SLC37A4); and G6Pase-β deficiency or severe congenital neutropenia syndrome type 4 (SCN4), deficient in the ubiquitously expressed G6Pase-β (or G6PC3). G6Pase-α and G6Pase-β are glucose-6-phosphate (G6P) hydrolases with active sites lying inside the endoplasmic reticulum (ER) lumen and as such are dependent upon the G6PT to translocate G6P from the cytoplasm into the lumen...
May 2015: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/24745989/the-slc37-family-of-sugar-phosphate-phosphate-exchangers
#9
REVIEW
Janice Y Chou, Brian C Mansfield
The SLC37 family members are endoplasmic reticulum (ER)-associated sugar-phosphate/phosphate (P(i)) exchangers. Three of the four members, SLC37A1, SLC37A2, and SLC37A4, function as Pi-linked glucose-6-phosphate (G6P) antiporters catalyzing G6P:P(i) and P(i):P(i) exchanges. The activity of SLC37A3 is unknown. SLC37A4, better known as the G6P transporter (G6PT), has been extensively characterized, functionally and structurally, and is the best characterized family member. G6PT contains 10 transmembrane helices with both N and C termini facing the cytoplasm...
2014: Current Topics in Membranes
https://www.readbyqxmd.com/read/24646511/involvement-of-endocrine-system-in-a-patient-affected-by-glycogen-storage-disease-1b-speculation-on-the-role-of-autoimmunity
#10
Daniela Melis, Roberto Della Casa, Francesca Balivo, Giorgia Minopoli, Alessandro Rossi, Mariacarolina Salerno, Generoso Andria, Giancarlo Parenti
Glycogen storage disease type 1b (GSD1b) is an inherited metabolic defect of glycogenolysis and gluconeogenesis due to mutations of the SLC37A4 gene and to defective transport of glucose-6-phosphate. The clinical presentation of GSD1b is characterized by hepatomegaly, failure to thrive, fasting hypoglycemia, and dyslipidemia. Patients affected by GSD1b also show neutropenia and/or neutrophil dysfunction that cause increased susceptibility to recurrent bacterial infections. GSD1b patients are also at risk for inflammatory bowel disease...
2014: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/24401800/impaired-bone-metabolism-in-glycogen-storage-disease-type-1-is-associated-with-poor-metabolic-control-in-type-1a-and-with-granulocyte-colony-stimulating-factor-therapy-in-type-1b
#11
MULTICENTER STUDY
D Melis, R Pivonello, M Cozzolino, R Della Casa, F Balivo, A Del Puente, C Dionisi-Vici, G Cotugno, C Zuppaldi, M Rigoldi, R Parini, A Colao, G Andria, G Parenti
BACKGROUND: Glycogen storage disease type 1 (GSD1) is a rare and genetically heterogeneous metabolic defect of gluconeogenesis due to mutations of either the G6PC gene (GSD1a) or the SLC37A4 gene (GSD1b). Osteopenia is a known complication of GSD1. OBJECTIVES: The aim of this study was to investigate the effects of poor metabolic control and/or use of GSD1-specific treatments on bone mineral density (BMD) and metabolism in GSD1 patients. METHODS: In a multicenter, cross-sectional case-control study, we studied 38 GSD1 (29 GSD1a and 9 GSD1b) patients...
2014: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/24385852/determining-mutations-in-g6pc-and-slc37a4-genes-in-a-sample-of-brazilian-patients-with-glycogen-storage-disease-types-ia-and-ib
#12
Marcelo Paschoalete Carlin, Daniel Zanetti Scherrer, Adriana Maria Alves De Tommaso, Carmen Silvia Bertuzzo, Carlos Eduardo Steiner
Glycogen storage disease (GSD) comprises a group of autosomal recessive disorders characterized by deficiency of the enzymes that regulate the synthesis or degradation of glycogen. Types Ia and Ib are the most prevalent; while the former is caused by deficiency of glucose-6-phosphatase (G6Pase), the latter is associated with impaired glucose-6-phosphate transporter, where the catalytic unit of G6Pase is located. Over 85 mutations have been reported since the cloning of G6PC and SLC37A4 genes. In this study, twelve unrelated patients with clinical symptoms suggestive of GSDIa and Ib were investigated by using genetic sequencing of G6PC and SLC37A4 genes, being three confirmed as having GSD Ia, and two with GSD Ib...
December 2013: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/23965881/-gene-mutations-and-clinical-manifestations-in-children-with-glycogen-storage-disease-type-ib
#13
Cui-Li Liang, Li Liu, Hui-Ying Sheng, Min-Yan Jiang, Xi Yin, Hui-Fen Mei, Jing Cheng, Wen Zhang, Li-Ping Fan
OBJECTIVE: Glycogen storage disease type Ib (GSDIb) is caused by a deficiency of glucose-6-phosphate translocase (G6PT) activity due to SLC37A4 gene mutations. Most GSDIb patients have recurrent infections and inflammatory bowel disease, with poor prognosis. Detection of SLC37A4 gene mutations is of great significance for the diagnosis, subtyping and outcome prediction of GSD patients. This study aims to analyze SLC37A4 gene mutations in Chinese GSDIb patients and to investigate the relationship between its genotypes and clinical manifestations...
August 2013: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/23743798/liver-glucose-6-phosphatase-proteins-in-suckling-and-weaned-grey-seal-pups-structural-similarities-to-other-mammals-and-relationship-to-nutrition-insulin-signalling-and-metabolite-levels
#14
K A Bennett, M Hammill, S Currie
Phocid seals have been proposed as models for diabetes because they exhibit limited insulin response to glucose, high blood glucose and increasing insulin resistance when fasting. Liver glucose-6-phosphatase (G6Pase) catalyses the final step in glucose production and is central to glucose regulation in other animals. G6Pase comprises a translocase (SLC37A4) and a catalytic subunit (G6PC). G6PC and SLC37A4 expression and activity are normally regulated by nutritional state and glucostatic hormones, particularly insulin, and are elevated in diabetes...
December 2013: Journal of Comparative Physiology. B, Biochemical, Systemic, and Environmental Physiology
https://www.readbyqxmd.com/read/23506893/the-slc37-family-of-phosphate-linked-sugar-phosphate-antiporters
#15
REVIEW
Janice Y Chou, Hyun Sik Jun, Brian C Mansfield
The SLC37 family consists of four sugar-phosphate exchangers, A1, A2, A3, and A4, which are anchored in the endoplasmic reticulum (ER) membrane. The best characterized family member is SLC37A4, better known as the glucose-6-phosphate (G6P) transporter (G6PT). SLC37A1, SLC37A2, and G6PT function as phosphate (Pi)-linked G6P antiporters catalyzing G6P:Pi and Pi:Pi exchanges. The activity of SLC37A3 is unknown. G6PT translocates G6P from the cytoplasm into the lumen of the ER where it couples with either glucose-6-phosphatase-α (G6Pase-α) or G6Pase-β to hydrolyze intraluminal G6P to glucose and Pi...
April 2013: Molecular Aspects of Medicine
https://www.readbyqxmd.com/read/23267038/specific-reduction-of-g6pt-may-contribute-to-downregulation-of-hepatic-11%C3%AE-hsd1-in-diabetic-mice
#16
Hanze Du, Limei Liu, Ying Wang, Yuichi Nakagawa, Alexei Lyzlov, Kabirullah Lutfy, Theodore C Friedman, Xiaozhong Peng, Yanjun Liu
Pre-receptor activation of glucocorticoids via 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1 (HSD11B1)) has been identified as an important mediator of the metabolic syndrome. Hexose-6-phosphate dehydrogenase (H6PDH) mediates 11β-HSD1 amplifying tissue glucocorticoid production by driving intracellular NADPH exposure to 11β-HSD1 and requires glucose-6-phosphate transporter (G6PT (SLC37A4)) to maintain its activity. However, the potential effects of G6PT on tissue glucocorticoid production in type 2 diabetes and obesity have not yet been defined...
April 2013: Journal of Molecular Endocrinology
https://www.readbyqxmd.com/read/23251289/expression-of-intestinal-transporter-genes-in-beagle-dogs
#17
Soo-Min Cho, Sung-Won Park, Na-Hyun Kim, Jin-A Park, Hee Yi, Hee-Jung Cho, Ki-Hwan Park, Ingyun Hwang, Ho-Chul Shin
This study was performed to produce a transcriptional database of the intestinal transporters of beagle dogs. Total RNA was isolated from the duodenum and the expression of various mRNAs was measured using GeneChip(®) oligonucleotide arrays. A total of 124 transporter genes were detected. Genes for fatty acid, peptide, amino acid and glucose and multidrug resistance/multidrug resistance-associated protein (MDR/MRP) transport were expressed at relatively higher levels than the other transporter types. The dogs exhibited abundant mRNA expression of the fatty acid transporters (fatty acid binding proteins, FABPs) FABP1 and FABP2, the ATP-binding cassettes (ABCs) ABCB1A and ABCC2, the amino acid/peptide transporters SLC3A1 and SLC15A1, the glucose transporters SLC5A1, SLC2A2 and SLC2A5, the organic anion transporter SLC22A9 and the phosphate transporters SLC20A1 and SLC37A4...
January 2013: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/22899091/clinical-application-of-massively-parallel-sequencing-in-the-molecular-diagnosis-of-glycogen-storage-diseases-of-genetically-heterogeneous-origin
#18
Jing Wang, Hong Cui, Ni-Chung Lee, Wuh-Liang Hwu, Yin-Hsiu Chien, William J Craigen, Lee-Jun Wong, Victor Wei Zhang
PURPOSE: Glycogen storage diseases are a group of inborn errors of glycogen synthesis or catabolism. The outcome for untreated patients can be devastating. Given the genetic heterogeneity and the limited availability of enzyme study data, the definitive diagnosis of glycogen storage diseases is made on the basis of sequence analysis of selected potentially causative genes. METHODS: A massively parallel sequencing test was developed for simultaneous sequencing of 16 genes known to cause muscle and liver forms of glycogen storage diseases: GYS2, GYS1, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PHKB, PHKG2, PHKA1, PGAM2, and PGM1...
February 2013: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/21949678/slc37a1-and-slc37a2-are-phosphate-linked-glucose-6-phosphate-antiporters
#19
Chi-Jiunn Pan, Shih-Yin Chen, Hyun Sik Jun, Su Ru Lin, Brian C Mansfield, Janice Y Chou
Blood glucose homeostasis between meals depends upon production of glucose within the endoplasmic reticulum (ER) of the liver and kidney by hydrolysis of glucose-6-phosphate (G6P) into glucose and phosphate (P(i)). This reaction depends on coupling the G6P transporter (G6PT) with glucose-6-phosphatase-α (G6Pase-α). Only one G6PT, also known as SLC37A4, has been characterized, and it acts as a P(i)-linked G6P antiporter. The other three SLC37 family members, predicted to be sugar-phosphate:P(i) exchangers, have not been characterized functionally...
2011: PloS One
https://www.readbyqxmd.com/read/21629566/a-novel-mutation-in-slc37a4-gene-in-a-sri-lankan-boy-with-glycogen-storage-disease-type-ib-associated-with-very-early-onset-neutropenia
#20
Vajira Hw Dissanayake, Jayan D Jayasinghe, Viranga Thilakaratne, Rohan W Jayasekara
No abstract text is available yet for this article.
2011: Journal of Molecular and Genetic Medicine: An International Journal of Biomedical Research
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