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Glucose transporter deficiency

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https://www.readbyqxmd.com/read/28528383/pretreatment-of-hardwood-and-miscanthus-with-trametes-versicolor-for-bioenergy-conversion-and-densification-strategies
#1
Ryan M Kalinoski, Hector D Flores, Sunil Thapa, Erin R Tuegel, Michael A Bilek, Evelin Y Reyes-Mendez, Michael J West, Tim J Dumonceaux, Thomas Canam
The pretreatment of plant biomass negatively impacts the economics of many bioenergy and bioproduct processes due to the thermochemical requirements for deconstruction of lignocelluluose. An effective strategy to reduce these severity requirements is to pretreat the biomass with white-rot fungi, such as Trametes versicolor, which have the innate ability to deconstruct lignocellulose with a suite of specialized enzymes. In the present study, the effects of 12 weeks of pretreatment with a wild-type strain (52J) and a cellobiose dehydrogenase-deficient strain (m4D) of T...
May 20, 2017: Applied Biochemistry and Biotechnology
https://www.readbyqxmd.com/read/28498467/antibody-to-human-%C3%AE-fetoprotein-inhibits-cell-growth-of-human-hepatocellular-carcinoma-cells-by-resuscitating-the-pten-molecule-in-vitro-experiments
#2
Kiyoshi Ohkawa, Tadashi Asakura, Yutaka Tsukada, Tomokazu Matsuura
It has been proposed that α-fetoprotein (AFP) is a new member of the intracellular signaling molecule family of the phosphoinositide 3-kinase (PI3K)/AKT signaling pathway via interaction with the phosphatase and tensin homolog (PTEN). In this study, the effects of anti-human AFP antibody on the functions of PTEN were examined using an AFP-producing human hepatoma cell line. The antibody caused significant inhibition of cell growth, compared to a normal IgG control, with the accumulation of intracellular immune complexes followed by significant reduction of cytosolic functional AFP...
May 3, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28471544/neonatal-hypothyroidism-affects-testicular-glucose-homeostasis-through-increased-oxidative-stress-in-prepubertal-mice-effects-on-glut3-glut8-and-cx43
#3
D Sarkar, S K Singh
Thyroid hormones (THs) play an important role in maintaining the link between metabolism and reproduction and the altered THs status is associated with induction of oxidative stress in various organs like brain, heart, liver and testis. Further, reactive oxygen species play a pivotal role in regulation of glucose homeostasis in several organs, and glucose utilization by Leydig cells is essential for testosterone biosynthesis and thus is largely dependent on glucose transporter 8 (GLUT8). Glucose uptake by Sertoli cells is mediated through glucose transporter 3 (GLUT3) under the influence of THs to meet energy requirement of developing germ cells...
May 4, 2017: Andrology
https://www.readbyqxmd.com/read/28459125/the-face-of-glut1-ds-patients-a-3d-craniofacial-morphometric-analysis
#4
Valentina Pucciarelli, Simona Bertoli, Marina Codari, Ramona De Amicis, Valentina De Giorgis, Alberto Battezzati, Pierangelo Veggiotti, Chiarella Sforza
Introduction - Glut1 deficiency syndrome (Glut1-DS) is a neurological and metabolic disorder caused by impaired transport of glucose across the blood brain barrier (BBB). Mutations on the SCL2A1 gene encoding the glucose transporter protein in the BBB cause the syndrome, which encompasses epilepsy, movement disorders and mental delay. Such variability of symptoms presents an obstacle to early diagnosis. The patients seem to share some craniofacial features, and identification and quantification of these could help in prompt diagnosis and clinical management...
April 29, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28443597/a-different-slc2a1-gene-mutation-in-glut-1-deficiency-syndrome-c-734a-c
#5
Rüya Çolak, Senem Alkan Özdemir, Ezgi Yangın Ergon, Mehtap Kağnıcı, Şebnem Çalkavur
BACKGROUND: Neonatal seizures can be the first symptom of the inborn errors of metabolism. Glucose transporter type 1 deficiency syndrome (GLUT1DS) is the result of impaired glucose transport into the brain. GLUT1DS patient presents with infantile seizures with resistant to traditional seizure medications, developmental delay, acquired microcephaly, spasticity and ataxia. CASE REPORT: Here, we report a rare case of Glucose transporter type 1 deficiency syndrome caused by a different pathogenic variant in a 10-day-old neonate who presented with intractable seizures and respiratory arrest...
April 13, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/28442777/serotonin-transporter-deficiency-drives-estrogen-dependent-obesity-and-glucose-intolerance
#6
Weibin Zha, Horace T B Ho, Tao Hu, Mary F Hebert, Joanne Wang
Depression and use of antidepressant medications are both associated with increased risk of obesity, potentially attributed to a reduced serotonin transporter (SERT) function. However, how SERT deficiency promotes obesity is unknown. Here, we demonstrated that SERT (-/-) mice display abnormal fat accumulation in both white and brown adipose tissues, glucose intolerance and insulin resistance while exhibiting suppressed aromatase (Cyp19a1) expression and reduced circulating 17β-estradiol levels. 17β-estradiol replacement in SERT (-/-) mice reversed the obesity and glucose intolerance, supporting a role for estrogen in SERT deficiency-associated obesity and glucose intolerance...
April 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28439667/myricetin-induced-brown-adipose-tissue-activation-prevents-obesity-and-insulin-resistance-in-db-db-mice
#7
Tao Hu, Xiaoxue Yuan, Gang Wei, Haoshu Luo, Hyuek Jong Lee, Wanzhu Jin
PURPOSE: Myricetin, a dietary flavonoid, is effective in the treatment of obesity and insulin resistance by increasing glucose transport and lipogenesis in adipocyte and diminishing systemic inflammation in obesity. However, it has not been revealed yet whether myricetin is associated with brown adipose tissue (BAT) activation that tightly mediates systemic energy metabolism. Therefore, this study assessed whether myricetin activated brown adipose tissue in db/db mouse. METHODS: Myricetin (400 mg/kg) in distilled water was fed daily by oral gavage to leptin receptor-deficient db/db male mice at 4 weeks of age for 14 weeks...
April 24, 2017: European Journal of Nutrition
https://www.readbyqxmd.com/read/28437535/clinical-aspects-of-glucose-transporter-type-1-deficiency-information-from-a-global-registry
#8
Jian Hao, Dorothy I Kelly, Jianzhong Su, Juan M Pascual
Importance: Case reports regularly document unique or unusual aspects of glucose transporter type 1 deficiency (G1D). In contrast, population studies from which to draw global inferences are lacking. Twenty-five years after the earliest case reports, this deficiency still particularly affects treatment and prognostic counseling. Objective: To examine the most common features of G1D. Design, Setting, and Participants: In this study, data were collected electronically from 181 patients with G1D through a web-based, worldwide patient registry from December 1, 2013, through December 1, 2016...
April 24, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28433974/hypoactive-hypoalert-behaviour-and-thalamic-hypometabolism-due-to-intracranial-hypotension
#9
Seamus Kearney, Peter Flynn, Simon Hughes, Wendy Spence, Mark Owen McCarron
A 47-year-old man presented with a 9-year history of a hypoalert hypoactive behaviour syndrome, caused by the deep brain swelling variant of spontaneous intracranial hypotension. Along with apathy with retained cognition, he had stable ataxia, impaired upgaze and episodes of central apnoea. MRI brain showed a sagging brainstem, pointed ventricles and reduced angle between the vein of Galen and the straight sinus, but no meningeal enhancement or subdural collections. A dopamine transporter scan showed preganglionic dopamine receptor deficiency; a fluorodeoxy glucose positron emission tomography scan showed bilateral hypothalamic hypometabolism...
April 22, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28431964/microvillus-specific-protein-tyrosine-phosphatase-sap-1-plays-a-role-in-regulating-the-intestinal-paracellular-transport-of-macromolecules
#10
Shingo Mori, Noriyasu Kamei, Yoji Murata, Kozo Takayama, Takashi Matozaki, Mariko Takeda-Morishita
The stomach cancer associated protein tyrosine phosphatase 1 (SAP-1) is a receptor-type protein tyrosine phosphatase that is specifically expressed on the apical membrane of the intestinal epithelium. SAP-1 is known to maintain the balance of phosphorylation of proteins together with protein kinases, however, its biological function and impact on pharmacokinetics in the intestine remain unclear. The present study, therefore, aimed to clarify the relationship between SAP-1 and the intestinal absorption behaviors of typical transporter substrates and macromolecules...
April 18, 2017: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28428045/sco2-deficient-mice-develop-increased-adiposity-and-insulin-resistance
#11
Shauna Hill, Sathyaseelan S Deepa, Kavithalakshmi Sataranatarajan, Pavithra Premkumar, Daniel Pulliam, Yuhong Liu, Vanessa Y Soto, Kathleen E Fischer, Holly Van Remmen
Cytochrome c oxidase (COX) is an essential transmembrane protein complex (Complex IV) in the mitochondrial respiratory electron chain. Mutations in genes responsible for the assembly of COX are associated with Leigh syndrome, cardiomyopathy, spinal muscular atrophy and other fatal metabolic disorders in humans. Previous studies have shown that mice lacking the COX assembly protein Surf1 (Surf1(-/-) mice) paradoxically show a number of beneficial metabolic phenotypes including increased insulin sensitivity, upregulation of mitochondrial biogenesis, induction of stress response pathways and increased lifespan...
April 18, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28419980/evaluation-of-glut1-variation-in-non-acquired-focal-epilepsy
#12
Alexander Peeraer, John A Damiano, Susannah T Bellows, Ingrid E Scheffer, Samuel F Berkovic, Saul A Mullen, Michael S Hildebrand
Brain glucose transport is dependent on glucose transporter 1 (GLUT1), encoded by the solute carrier family 2 member 1 (SLC2A1) gene. Mutations in SLC2A1 cause GLUT1 deficiency which is characterized by a broad spectrum of neurological phenotypes including generalized epilepsy, motor disorders, developmental delay and microcephaly. Recent case reports suggest SLC2A1 mutations can contribute to non-acquired focal epilepsy (NAFE) but interrogation of a large patient cohort has not been reported. We studied 200 patients with NAFE (126 with temporal lobe epilepsy) comprising 104 females and 96 males with a mean age of onset of 18 years...
April 10, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28407523/glut1-deficiency-syndrome-report-of-a-four-generation-norwegian-family-with-a-mild-phenotype
#13
Anette Ramm-Pettersen, Karl O Nakken, Kathrine C Haavardsholm, Kaja Kristine Selmer
INTRODUCTION: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare metabolic encephalopathy with a wide variation of clinical phenotypes. Familial variants are often milder than de novo cases, and may therefore remain undiagnosed. The aim of this study was to characterize the clinical course of GLUT1-DS in a four-generation Norwegian family where the oldest generations had never received any treatment. METHOD: Through interviews and clinical investigations, we characterized a family of 26 members, where 11 members had symptoms strongly suggesting GLUT1-DS...
May 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28395380/streptozotocin-treated-high-fat-fed-mice-a-new-type-2-diabetes-model-used-to-study-canagliflozin-induced-alterations-in-lipids-and-lipoproteins
#14
Tian Yu, Mitchell J Sungelo, Ira J Goldberg, Hong Wang, Robert H Eckel
The pharmacological effects of type 2 diabetes (T2DM) medications on lipoprotein metabolism are difficult to assess in preclinical models because those created failure to replicate the human condition in which insulin deficiency is superimposed on obesity-related insulin resistance. To create a better model, we fed mice with high fat (HF) diet and treated the animals with low dose streptozotocin (STZ) to mimic T2DM. We used this model to evaluate the effects of canagliflozin (CANA), a drug that reduces plasma glucose by inhibiting the sodium-glucose transporter 2 (SGLT2), which mediates ~90% of renal glucose reabsorption] on lipid and lipoprotein metabolism...
May 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/28378819/upstream-slc2a1-translation-initiation-causes-glut1-deficiency-syndrome
#15
Michèl A Willemsen, Lisenka Elm Vissers, Marcel M Verbeek, Bregje W van Bon, Sinje Geuer, Christian Gilissen, Joerg Klepper, Michael P Kwint, Wilhelmina G Leen, Maartje Pennings, Ron A Wevers, Joris A Veltman, Erik-Jan Kamsteeg
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder with a complex phenotypic spectrum but simple biomarkers in cerebrospinal fluid. The disorder is caused by impaired glucose transport into the brain resulting from variants in SCL2A1. In 10% of GLUT1DS patients, a genetic diagnosis can not be made. Using whole-genome sequencing, we identified a de novo 5'-UTR variant in SLC2A1, generating a novel translation initiation codon, severely compromising SLC2A1 function. This finding expands our understanding of the disease mechanisms underlying GLUT1DS and encourages further in-depth analysis of SLC2A1 non-coding regions in patients without variants in the coding region...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28361745/short-term-impact-of-a-classical-ketogenic-diet-on-gut-microbiota-in-glut1-deficiency-syndrome-a-3-month-prospective-observational-study
#16
Anna Tagliabue, Cinzia Ferraris, Francesca Uggeri, Claudia Trentani, Simona Bertoli, Valentina de Giorgis, Pierangelo Veggiotti, Marina Elli
BACKGROUND&AIMS: The classical ketogenic diet (KD) is a high-fat, very low-carbohydrate normocaloric diet used for drug-resistant epilepsy and Glucose Transporter 1 Deficiency Syndrome (GLUT1 DS). In animal models, high fat diet induces large alterations in microbiota producing deleterious effects on gut health. We carried out a pilot study on patients treated with KD comparing their microbiota composition before and after three months on the diet. METHODS: Six patients affected by GLUT1 DS were asked to collect fecal samples before and after three months on the diet...
February 2017: Clinical Nutrition ESPEN
https://www.readbyqxmd.com/read/28358037/type-1-diabetes-mellitus
#17
REVIEW
Anastasia Katsarou, Soffia Gudbjörnsdottir, Araz Rawshani, Dana Dabelea, Ezio Bonifacio, Barbara J Anderson, Laura M Jacobsen, Desmond A Schatz, Åke Lernmark
Type 1 diabetes mellitus (T1DM), also known as autoimmune diabetes, is a chronic disease characterized by insulin deficiency due to pancreatic β-cell loss and leads to hyperglycaemia. Although the age of symptomatic onset is usually during childhood or adolescence, symptoms can sometimes develop much later. Although the aetiology of T1DM is not completely understood, the pathogenesis of the disease is thought to involve T cell-mediated destruction of β-cells. Islet-targeting autoantibodies that target insulin, 65 kDa glutamic acid decarboxylase, insulinoma-associated protein 2 and zinc transporter 8 - all of which are proteins associated with secretory granules in β-cells - are biomarkers of T1DM-associated autoimmunity that are found months to years before symptom onset, and can be used to identify and study individuals who are at risk of developing T1DM...
March 30, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28343791/androgen-receptor-deficient-islet-%C3%AE-cells-exhibit-alteration-in-genetic-markers-of-insulin-secretion-and-inflammation-a-transcriptome-analysis-in-the-male-mouse
#18
Weiwei Xu, Tianhua Niu, Beibei Xu, Guadalupe Navarro, Matthew J Schipma, Franck Mauvais-Jarvis
AIMS: Testosterone action is mediated via the androgen receptor (AR). We have reported that male mice lacking AR selectively in β-cells (βARKO(-/y)) develop decreased glucose-stimulated insulin secretion (GSIS), producing glucose intolerance. We showed that testosterone action on AR in β-cells amplifies the insulinotropic action of GLP-1 on its receptor via a cAMP-dependent protein kinase-A pathway. METHODS: To investigate AR-dependent gene networks in β-cells, we performed a high throughput whole transcriptome sequencing (RNA-Seq) in islets from male βARKO(-/y) and control mice...
May 2017: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/28303352/redirecting-carbon-flux-through-pgi-deficient-and-heterologous-transhydrogenase-toward-efficient-succinate-production-in-corynebacterium-glutamicum
#19
Chen Wang, Zhihui Zhou, Heng Cai, Zhongjun Chen, Hongtao Xu
Corynebacterium glutamicum is particularly known for its potentiality in succinate production. We engineered C. glutamicum for the production of succinate. To enhance C3-C4 carboxylation efficiency, chromosomal integration of the pyruvate carboxylase gene pyc resulted in strain NC-4. To increase intracellular NADH pools, the pntAB gene from Escherichia coli, encoding for transhydrogenase, was chromosomally integrated into NC-4, leading to strain NC-5. Furthermore, we deleted pgi gene in strain NC-5 to redirect carbon flux to the pentose phosphate pathway (PPP)...
March 16, 2017: Journal of Industrial Microbiology & Biotechnology
https://www.readbyqxmd.com/read/28288640/overexpression-of-a-c4-dicarboxylate-transporter-is-the-key-for-rerouting-citric-acid-to-c4-dicarboxylic-acid-production-in-aspergillus-carbonarius
#20
Lei Yang, Eleni Christakou, Jesper Vang, Mette Lübeck, Peter Stephensen Lübeck
BACKGROUND: C4-dicarboxylic acids, including malic acid, fumaric acid and succinic acid, are valuable organic acids that can be produced and secreted by a number of microorganisms. Previous studies on organic acid production by Aspergillus carbonarius, which is capable of producing high amounts of citric acid from varieties carbon sources, have revealed its potential as a fungal cell factory. Earlier attempts to reroute citric acid production into C4-dicarboxylic acids have been with limited success...
March 14, 2017: Microbial Cell Factories
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