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Phosphofructokinase deficiency

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https://www.readbyqxmd.com/read/30076962/glucose-free-high-protein-diet-improves-hepatomegaly-and-exercise-intolerance-in-glycogen-storage-disease-type-iii-mice
#1
Serena Pagliarani, Sabrina Lucchiari, Gianna Ulzi, Michela Ripolone, Raffaella Violano, Francesco Fortunato, Andreina Bordoni, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Giacomo P Comi
Glycogen disease type III (GSDIII), a rare incurable autosomal recessive disorder due to glycogen debranching enzyme deficiency, presents with liver, heart and skeletal muscle impairment, hepatomegaly and ketotic hypoglycemia. Muscle weakness usually worsens to fixed myopathy and cardiac involvement may present in about half of the patients during disease. Management relies on careful follow-up of symptoms and diet. No common agreement was reached on sugar restriction and treatment in adulthood. We administered two dietary regimens differing in their protein and carbohydrate content, high-protein (HPD) and high-protein/glucose-free (GFD), to our mouse model of GSDIII, starting at one month of age...
August 1, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29485030/in-vitro-characterization-and-identification-of-potential-substrates-of-a-low-molecular-weight-protein-tyrosine-phosphatase-in-streptococcus-pneumoniae
#2
Zuleeza Ahmad, Renato Morona, Alistair J Standish
Streptococcus pneumoniae is a major human pathogen responsible for significant mortality and morbidity worldwide. Within the annotated genome of the pneumococcus lies a previously uncharacterized protein tyrosine phosphatase which shows homology to low molecular weight protein tyrosine phosphatases (LMWPTPs). LMWPTPs modulate many processes critical for the pathogenicity of a number of bacteria including capsular polysaccharide biosynthesis, stress response and persistence in host macrophages. Here, we demonstrate that Spd1837 is indeed a LMWPTP, by purifying the protein, and characterizing its phosphatase activity...
April 2018: Microbiology
https://www.readbyqxmd.com/read/29210997/tempol-supplementation-restores-diaphragm-force-and-metabolic-enzyme-activities-in-mdx-mice
#3
David P Burns, Izza Ali, Clement Rieux, James Healy, Greg Jasionek, Ken D O'Halloran
Duchenne muscular dystrophy (DMD) is characterized by striated muscle weakness, cardiomyopathy, and respiratory failure. Since oxidative stress is recognized as a secondary pathology in DMD, the efficacy of antioxidant intervention, using the superoxide scavenger tempol, was examined on functional and biochemical status of dystrophin-deficient diaphragm muscle. Diaphragm muscle function was assessed, ex vivo, in adult male wild-type and dystrophin-deficient mdx mice, with and without a 14-day antioxidant intervention...
December 6, 2017: Antioxidants (Basel, Switzerland)
https://www.readbyqxmd.com/read/29166669/frequency-of-five-disease-causing-genetic-mutations-in-a-large-mixed-breed-dog-population-2011-2012
#4
Sharon Zierath, Angela M Hughes, Neale Fretwell, Mark Dibley, Kari J Ekenstedt
BACKGROUND: A large and growing number of inherited genetic disease mutations are now known in the dog. Frequencies of these mutations are typically examined within the breed of discovery, possibly in related breeds, but nearly always in purebred dogs. No report to date has examined the frequencies of specific genetic disease mutations in a large population of mixed-breed dogs. Further, veterinarians and dog owners typically dismiss inherited/genetic diseases as possibilities for health problems in mixed-breed dogs, assuming hybrid vigor will guarantee that single-gene disease mutations are not a cause for concern...
2017: PloS One
https://www.readbyqxmd.com/read/28706006/integration-of-flux-measurements-to-resolve-changes-in-anabolic-and-catabolic-metabolism-in-cardiac-myocytes
#5
Andrew A Gibb, Pawel K Lorkiewicz, Yu-Ting Zheng, Xiang Zhang, Aruni Bhatnagar, Steven P Jones, Bradford G Hill
Although ancillary pathways of glucose metabolism are critical for synthesizing cellular building blocks and modulating stress responses, how they are regulated remains unclear. In the present study, we used radiometric glycolysis assays, [13 C6 ]-glucose isotope tracing, and extracellular flux analysis to understand how phosphofructokinase (PFK)-mediated changes in glycolysis regulate glucose carbon partitioning into catabolic and anabolic pathways. Expression of kinase-deficient or phosphatase-deficient 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase in rat neonatal cardiomyocytes co-ordinately regulated glycolytic rate and lactate production...
August 7, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28073995/a-pericentric-inversion-of-chromosome-x-disrupting-f8-and-resulting-in-haemophilia-a
#6
Yu Xin, Jingyi Zhou, Qiulan Ding, Changming Chen, Xi Wu, Xuefeng Wang, Hongli Wang, Xiaofeng Jiang
AIMS: The frequency of X chromosome pericentric inversion is much less than that of autosome chromosome. We hereby characterise a pericentric inversion of X chromosome associated with severe factor VIII (FVIII) deficiency in a sporadic haemophilia A (HA) pedigree. METHODS: PCR primer walking and genome walking strategies were adopted to identify the exact breakpoints of the inversion. Copy number variations (CNVs) of the F8 and the whole chromosomes were detected by AccuCopy and Affymetrix CytoScan High Definition (HD) assays, respectively...
August 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27866851/inhibition-of-the-glycolytic-activator-pfkfb3-in-endothelium-induces-tumor-vessel-normalization-impairs-metastasis-and-improves-chemotherapy
#7
COMMENT
Anna Rita Cantelmo, Lena-Christin Conradi, Aleksandra Brajic, Jermaine Goveia, Joanna Kalucka, Andreas Pircher, Pallavi Chaturvedi, Johanna Hol, Bernard Thienpont, Laure-Anne Teuwen, Sandra Schoors, Bram Boeckx, Joris Vriens, Anna Kuchnio, Koen Veys, Bert Cruys, Lise Finotto, Lucas Treps, Tor Espen Stav-Noraas, Francesco Bifari, Peter Stapor, Ilaria Decimo, Kim Kampen, Katrien De Bock, Guttorm Haraldsen, Luc Schoonjans, Ton Rabelink, Guy Eelen, Bart Ghesquière, Jalees Rehman, Diether Lambrechts, Asrar B Malik, Mieke Dewerchin, Peter Carmeliet
Abnormal tumor vessels promote metastasis and impair chemotherapy. Hence, tumor vessel normalization (TVN) is emerging as an anti-cancer treatment. Here, we show that tumor endothelial cells (ECs) have a hyper-glycolytic metabolism, shunting intermediates to nucleotide synthesis. EC haplo-deficiency or blockade of the glycolytic activator PFKFB3 did not affect tumor growth, but reduced cancer cell invasion, intravasation, and metastasis by normalizing tumor vessels, which improved vessel maturation and perfusion...
December 12, 2016: Cancer Cell
https://www.readbyqxmd.com/read/27601466/identification-of-the-plant-ribokinase-and-discovery-of-a-role-for-arabidopsis-ribokinase-in-nucleoside-metabolism
#8
John W Riggs, Nathan C Rockwell, Philip C Cavales, Judy Callis
Ribose can be used for energy or as a component of several important biomolecules, but for it to be used in either capacity it must first be phosphorylated by ribokinase (RBSK). RBSK proteins are part of the phosphofructokinase-B (pfkB) family of carbohydrate kinases. Sequence comparisons of pfkB proteins from the model plant Arabidopsis thaliana with the human and Escherichia coli RBSK identified a single candidate RBSK, At1g17160 (AtRBSK). AtRBSK is more similar to predicted RBSKs from other plant species and known mammalian and prokaryotic RBSK than to all other PfkB proteins in Arabidopsis AtRBSK contains a predicted chloroplast transit peptide, and we confirmed plastid localization using AtRBSK fused to YFP...
October 21, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27303362/unique-exercise-lactate-profile-in-muscle-phosphofructokinase-deficiency-tarui-disease-difference-compared-with-mcardle-disease
#9
Päivi Piirilä, Minna E Similä, Johanna Palmio, Tomi Wuorimaa, Emil Ylikallio, Satu Sandell, Petri Haapalahti, Lasse Uotila, Henna Tyynismaa, Bjarne Udd, Mari Auranen
INTRODUCTION: Glycogen storage disease V (GSDV, McArdle disease) and GSDVII (Tarui disease) are the most common of the rare disorders of glycogen metabolism. Both are associated with low lactate levels on exercise. Our aim was to find out whether lactate response associated with exercise testing could distinguish between these disorders. METHODS: Two siblings with Tarui disease, two patients with McArdle disease and eight healthy controls were tested on spiroergometric exercise tests with follow-up of venous lactate and ammonia...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27280431/differential-glucose-metabolism-in-mice-and-humans-affected-by-mcardle-disease
#10
COMPARATIVE STUDY
Thomas O Krag, Tomàs Pinós, Tue L Nielsen, Jordi Duran, Mar García-Rocha, Antoni L Andreu, John Vissing
McArdle disease (muscle glycogenosis type V) is a disease caused by myophosphorylase deficiency leading to "blocked" glycogen breakdown. A significant but varying glycogen accumulation in especially distal hind limb muscles of mice affected by McArdle disease has recently been demonstrated. In this study, we investigated how myophosphorylase deficiency affects glucose metabolism in hind limb muscle of 20-wk-old McArdle mice and vastus lateralis muscles from patients with McArdle disease. Western blot analysis and activity assay demonstrated that glycogen synthase was inhibited in glycolytic muscle from McArdle mice...
August 1, 2016: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/27226568/regulation-of-vacuolar-h-atpase-v-atpase-reassembly-by-glycolysis-flow-in-6-phosphofructo-1-kinase-pfk-1-deficient-yeast-cells
#11
Chun-Yuan Chan, Dennis Dominguez, Karlett J Parra
Yeast 6-phosphofructo-1-kinase (PFK-1) has two subunits, Pfk1p and Pfk2p. Deletion of Pfk2p alters glucose-dependent V-ATPase reassembly and vacuolar acidification (Chan, C. Y., and Parra, K. J. (2014) Yeast phosphofructokinase-1 subunit Pfk2p is necessary for pH homeostasis and glucose-dependent vacuolar ATPase reassembly. J. Biol. Chem. 289, 19448-19457). This study capitalized on the mechanisms suppressing vacuolar H(+)-ATPase (V-ATPase) in pfk2Δ to gain new knowledge of the mechanisms underlying glucose-dependent V-ATPase regulation...
July 22, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27151219/type-2-diabetes-dysregulates-glucose-metabolism-in-cardiac-progenitor-cells
#12
Joshua K Salabei, Pawel K Lorkiewicz, Parul Mehra, Andrew A Gibb, Petra Haberzettl, Kyung U Hong, Xiaoli Wei, Xiang Zhang, Qianhong Li, Marcin Wysoczynski, Roberto Bolli, Aruni Bhatnagar, Bradford G Hill
Type 2 diabetes is associated with increased mortality and progression to heart failure. Recent studies suggest that diabetes also impairs reparative responses after cell therapy. In this study, we examined potential mechanisms by which diabetes affects cardiac progenitor cells (CPCs). CPCs isolated from the diabetic heart showed diminished proliferation, a propensity for cell death, and a pro-adipogenic phenotype. The diabetic CPCs were insulin-resistant, and they showed higher energetic reliance on glycolysis, which was associated with up-regulation of the pro-glycolytic enzyme 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 (PFKFB3)...
June 24, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27142047/severe-cardiomyopathy-as-the-isolated-presenting-feature-in-an-adult-with-late-onset-pompe-disease-a-case-report
#13
Mari Mori, Lauren A Bailey, Januario Estrada, Catherine W Rehder, Jennifer S Li, Joseph G Rogers, Deeksha S Bali, Anne F Buckley, Priya S Kishnani
Many inborn errors of metabolism can cause cardiomyopathy. Cardiomyopathy associated with glycogen storage includes PRKAG2-associated glycogen storage disease (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructokinase deficiency (Tarui disease or GSD VII).We present a 35-year-old female who presented with cardiomyopathy after a pregnancy complicated by primary hyperparathyroidism. She had enjoyed excellent health until her first pregnancy at age 33. One week postpartum, she developed dyspnea and an echocardiogram revealed left ventricular ejection fraction (LVEF) of 35%...
2017: JIMD Reports
https://www.readbyqxmd.com/read/27004047/ethanolic-extract-of-commiphora-mukul-gum-resin-attenuates-streptozotocin-induced-alterations-in-carbohydrate-and-lipid-metabolism-in-rats
#14
B Ramesh, R Karuna, S Sreenivasa Reddy, G Sudhakara, D Saralakumari
The purpose of this study was to investigate the effects of Commiphora mukul gum resin ethanolic extract (CMEEt) administration against altered activities of key enzymes of carbohydrate metabolism, lipid metabolism and changes in glycogen content (liver and muscle) and lipids (liver and heart) in streptozotocin (STZ) induced insulin deficient diabetic Wistar albino rats. Diabetes was induced by intraperitoneal injection of STZ (55 mg/kg body wt) to male Wistar rats. The animals were divided into four groups: Control (C), control-treated (C+CM), diabetic (D) and diabetic-treated group (D+CM)...
2013: EXCLI Journal
https://www.readbyqxmd.com/read/26509553/catabolite-responsive-element-deficiency-of-xyl-operon-resulting-in-carbon-catabolite-derepression-in-lactobacillus-fermentum-1001
#15
C Zhang, T Guo, Y Xin, X Gao, J Kong
AIMS: To explore the molecular mechanism of the carbon catabolite derepression in Lactobacillus fermentum 1001 when this strain consumed xylose and glucose simultaneously. METHODS AND RESULTS: The transcriptional level of ccpAf was measured by real-time qPCR, revealing that ccpAf transcribed mRNA normally in Lact. fermentum 1001. The ccpAf gene could complement the ccpA-deficiency of a Lactococcus lactis mutant. Moreover, when the phosphofructokinase from Lactobacillus delbrueckii subsp...
January 2016: Journal of Applied Microbiology
https://www.readbyqxmd.com/read/26499076/o-linked-n-acetylglucosaminylation-of-sp1-interferes-with-sp1-activation-of-glycolytic-genes
#16
Kihong Lim, Bo Hyun Yoon, Chang Hoon Ha
Glycolysis, the primary pathway metabolizing glucose for energy production, is connected to the hexosamine biosynthetic pathway (HBP) which produces UDP-N-acetylglucosamine (UDP-GlcNAc), a GlcNAc donor for O-linked GlcNAc modification (O-GlcNAc), as well as for traditional elongated glycosylation. Thus, glycolysis and O-GlcNAc are intimately associated. The present study reports the transcriptional activation of glycolytic genes by the transcription factor Sp1 and the O-GlcNAc-mediated suppression of Sp1-dependent activation of glycolytic genes...
December 4, 2015: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/26452676/hif-p4h-2-deficiency-protects-against-skeletal-muscle-ischemia-reperfusion-injury
#17
Sara Karsikas, Mikko Myllymäki, Minna Heikkilä, Raija Sormunen, Kari I Kivirikko, Johanna Myllyharju, Raisa Serpi, Peppi Koivunen
We show here that mice hypomorphic for hypoxia-inducible factor prolyl 4-hydroxylase-2 (HIF-P4H-2) (Hif-p4h-2 (gt/gt)), the main regulator of the stability of the HIFα subunits, have normoxic stabilization of HIF-1α and HIF-2α in their skeletal muscles. The size of the capillaries, but not their number, was increased in the skeletal muscles of the Hif-p4h-2 (gt/gt) mice, whereas the amount of glycogen was reduced. The expression levels of genes for glycolytic enzymes, glycogen branching enzyme 1 and monocarboxylate transporter 4, were increased in the Hif-p4h-2 (gt/gt) skeletal muscles, whereas no significant increases were detected in the levels of any vasculature-influencing factor studied...
March 2016: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/26108272/infantile-form-of-muscle-phosphofructokinase-deficiency-in-a-premature-neonate
#18
REVIEW
Pei-Ling Wu, Yung-Ning Yang, Shu-Leei Tey, Chun-Hwa Yang, San-Nan Yang, Chien-Seng Lin
Muscle phosphofructokinase (PFK) deficiency is a rare autosomal recessive disease. We report the case of a preterm female infant who was diagnosed with the infantile form of phosphofructokinase deficiency due to a lack of PFK activity in her muscles, manifesting at a corrected age of 1 month as floppy infant syndrome, congenital joint contracture, cleft palate and duplication of the pelvicalyceal system. She died at a corrected age of 6 months due to respiratory failure. We further reviewed other infantile cases in the literature...
August 2015: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/26047930/influence-of-altered-nadh-metabolic-pathway-on-the-respiratory-deficient-mutant-of-rhizopus-oryzae-and-its-l-lactate-production
#19
Chang Shu, Chenchen Guo, Shuizhong Luo, Shaotong Jiang, Zhi Zheng
Respiratory-deficient mutants of Rhizopus oryzae (R. oryzae) AS 3.3461 were acquired by ultraviolet (UV) irradiation to investigate changes in intracellular NADH metabolic pathway and its influence on the fermentation characteristics of the strain. Compared with R. oryzae AS 3.3461, the intracellular ATP level of the respiratory-deficient strain UV-1 decreased by 52.7 % and the glucose utilization rate rose by 8.9 %; When incubated for 36 h, the activities of phosphofructokinase (PFK), hexokinase (HK), and pyruvate kinase (PK) in the mutant rose by 74...
August 2015: Applied Biochemistry and Biotechnology
https://www.readbyqxmd.com/read/25985179/structures-of-human-phosphofructokinase-1-and-atomic-basis-of-cancer-associated-mutations
#20
Bradley A Webb, Farhad Forouhar, Fu-En Szu, Jayaraman Seetharaman, Liang Tong, Diane L Barber
Phosphofructokinase-1 (PFK1), the 'gatekeeper' of glycolysis, catalyses the committed step of the glycolytic pathway by converting fructose-6-phosphate to fructose-1,6-bisphosphate. Allosteric activation and inhibition of PFK1 by over ten metabolites and in response to hormonal signalling fine-tune glycolytic flux to meet energy requirements. Mutations inhibiting PFK1 activity cause glycogen storage disease type VII, also known as Tarui disease, and mice deficient in muscle PFK1 have decreased fat stores. Additionally, PFK1 is proposed to have important roles in metabolic reprogramming in cancer...
July 2, 2015: Nature
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