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Glycogen storage

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https://www.readbyqxmd.com/read/28723673/energy-metabolism-in-glioblastoma-stem-cells-ppar%C3%AE-a-metabolic-adaptor-to-intratumoral-microenvironment
#1
Alessia Fidoamore, Loredana Cristiano, Chiara Laezza, Renato Galzio, Elisabetta Benedetti, Benedetta Cinque, Andrea Antonosante, Michele d'Angelo, Vanessa Castelli, Maria Grazia Cifone, Rodolfo Ippoliti, Antonio Giordano, Annamaria Cimini
Glioblastoma (GB), the most-common cancer in the adult brain, despite surgery and radio/ chemotherapy, is to date almost incurable. Many hypoxic tumors, including GB, show metabolic reprogramming to sustain uncontrolled proliferation, hypoxic conditions and angiogenesis. Peroxisome Proliferator-activated Receptors (PPAR), particularly the α isotype, have been involved in the control of energetic metabolism. Herein, we characterized patient-derived GB neurospheres focusing on their energetic metabolism and PPARα expression...
July 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28713790/preliminary-study-on-physicochemical-and-biochemical-stress-markers-at-poultry-slaughterhouse
#2
Serena Santonicola, Maria Francesca Peruzy, Mariagrazia Girasole, Nicoletta Murru, Maria Luisa Cortesi, Raffaelina Mercogliano
Pre-slaughter stress can result in variations in the glycogen storage and metabolic changes of muscle, responsible for quality poultry meat. Aim of this study was to investigate, as pre-slaughter stress markers and quality meat, physicochemical (pH), biochemical (muscle glycogen content), and chemical (super oxides free radicals) parameters. The carcass quality, as incidence of individual carcass defects, was also evaluated. Twenty broilers were processed with two different electrical stunning: high (250 Hz; 640 mA; 60V) (Lot C or control) and low (150 Hz; 360 mA; 60 V) (Lot A) frequency and intensity, using sinusoidal alternating current...
April 13, 2017: Italian Journal of Food Safety
https://www.readbyqxmd.com/read/28713408/transcriptome-analyses-shed-new-insights-into-primary-metabolism-and-regulation-of-blumeria-graminis-f-sp-tritici-during-conidiation
#3
Fan-Song Zeng, Fabrizio Menardo, Min-Feng Xue, Xue-Jiang Zhang, Shuang-Jun Gong, Li-Jun Yang, Wen-Qi Shi, Da-Zhao Yu
Conidia of the obligate biotrophic fungal pathogen Blumeria graminis f. sp. tritici (Bgt) play a vital role in its survival and rapid dispersal. However, little is known about the genetic basis for its asexual reproduction. To uncover the primary metabolic and regulatory events during conidiation, we sequenced the transcriptome of Bgt epiphytic structures at 3 (vegetative hyphae growth), 4 (foot cells initiation), and 5 (conidiophore erection) days post-inoculation (dpi). RNA-seq analyses identified 556 and 404 (combined 685) differentially expressed genes (DEGs) at 4 and 5 dpi compared with their expression levels at 3 dpi, respectively...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28694071/first-clinical-and-genetic-description-of-a-family-diagnosed-with-late-onset-pompe-disease-from-costa-rica
#4
Gabriel Torrealba-Acosta, María Consuelo Rodríguez-Roblero, Sixto Bogantes-Ledezma, Kenneth Carazo-Céspedes, Claude Desnuelle
Glycogen storage disease type II, also known as Pompe disease, is an autosomal recessive disorder caused by deficiency of enzymatic activity of acid alpha-glucosidase. The wide phenotypical variation of this disease relates to the amount of residual enzymatic activity depending on the combination of mutations on each allele. We confirmed Pompe disease in a patient that presented with progressive weakness, recurrent episodes of respiratory failure associated with pneumonia, a predominantly demyelinating mixed sensorimotor polyneuropathy and paraspinal complex repetitive discharges...
June 20, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28688261/effect-of-long-term-chilled-up-to-5weeks-then-frozen-up-to-12months-storage-at-two-different-sub-zero-holding-temperatures-on-beef-1-meat-quality-and-microbial-loads
#5
Benjamin W B Holman, Cassius E O Coombs, Stephen Morris, Matthew J Kerr, David L Hopkins
Beef loins (LL) stored under different chilled-then-frozen storage combinations (up to 5 and 52weeks, respectively) and two frozen holding temperatures were evaluated for microbial load and meat quality parameters. We found holding temperature effects to be negligible, which suggest -12°C could deliver comparable quality LL to -18°C across these same storage periods. Meat quality parameters varied significantly, but when compared to existing consumer thresholds these may not be perceptible, colour being the exception which proved unacceptable, earlier into retail display when either chilled and subsequent frozen storage periods were increased...
June 30, 2017: Meat Science
https://www.readbyqxmd.com/read/28685844/genetic-characterization-of-gsd-i-in-serbian-population-revealed-unexpectedly-high-incidence-of-gsd-ib-and-three-novel-slc37a4-variants
#6
Anita Skakic, Maja Djordjevic, Adrijan Sarajlija, Kristel Klaassen, Natasa Tosic, Bozica Kecman, Milena Ugrin, Vesna Spasovski, Sonja Pavlovic, Maja Stojiljkovic
Glycogen storage disease (GSD) type I is inborn metabolic disease characterized by accumulation of glycogen in multiple organs. We analyzed 38 patients with clinical suspicion of GSD I using Sanger and next-generation sequencing (NGS). We identified 28 GSD Ib and five Ia patients. In five patients, GSD III, VI, IX, cholesteryl-ester storage disease and Shwachman-Diamond syndrome diagnoses were set using NGS. Incidences for GSD Ia and GSD Ib were estimated at 1:172746 and 1:60461 live-births respectively. Two variants were identified in G6PC gene: c...
July 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28684172/efficient-prevention-of-neurodegenerative-diseases-by-depletion-of-starvation-response-factor-ataxin-2
#7
REVIEW
Georg Auburger, Nesli-Ece Sen, David Meierhofer, Ayşe-Nazlı Başak, Aaron D Gitler
Ataxin-2 (ATXN2) homologs exist in all eukaryotic organisms and may have contributed to their origin. Apart from a role in endocytosis, they are known for global effects on mRNA repair and ribosomal translation. Cell size, protein synthesis, and fat and glycogen storage are repressed by ATXN2 via mTORC1 signaling. However, specific liver mitochondrial matrix enzymes and the mitochondrial repair factor PINK1 require ATXN2 abundance. During periods of starvation, ATXN2 is transcriptionally induced and localized to cytosolic stress granules, where nuclear factors dock to compensate RNA pathology...
July 3, 2017: Trends in Neurosciences
https://www.readbyqxmd.com/read/28683284/is-type-2-diabetes-a-glycogen-storage-disease-of-pancreatic-%C3%AE-cells
#8
REVIEW
Frances M Ashcroft, Maria Rohm, Anne Clark, Melissa F Brereton
Elevated plasma glucose leads to pancreatic β cell dysfunction and death in type 2 diabetes. Glycogen accumulation, due to impaired metabolism, contributes to this "glucotoxicity" via dysregulated biochemical pathways promoting β cell dysfunction. Here, we review emerging data, and re-examine published findings, on the role of glycogen in β cells in normoglycemia and in diabetes.
July 5, 2017: Cell Metabolism
https://www.readbyqxmd.com/read/28659124/cataract-and-optic-disk-drusen-in-a-patient-with-glycogenosis-and-di-george-syndrome-clinical-and-molecular-report
#9
D Allegrini, S Penco, A Pece, A Autelitano, G Montesano, S Paci, C Montanari, A Maver, B Peterlin, G Damante, L Rossetti
BACKGROUND: We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD). CASE PRESENTATION: A 26-year-old white woman, born at term by natural delivery presented with a post-natal diagnosis of GSD Ia. Genetic testing by array-comparative genomic hybridization (CGH) for DGS was required because of her low levels of serum calcium. The patient has been followed from birth, attending the day-hospital every six months at the San Paolo Hospital, Milan, outpatient clinic for metabolic diseases and previously at another eye center...
June 28, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28658866/unusual-presentation-of-atypical-infantile-pompe-disease-in-the-newborn-period-with-left-ventricular-hypertrophy
#10
Sanjay Kumar, Amit Kumar
Pompe disease, also known as glycogen storage disease Type II, is a lysosomal storage disorder caused by α-glucosidase deficiency. In general, the clinical spectrum varies with respect to the age of onset, residual enzyme activity and organ involvement. Infantile onset disease has two subtypes: classical and non-classical (atypical). This case report describes the case of a newborn who presented with generalized hypotonia and elevated serum enzyme levels of aspartate aminotransferase 93 IU/L, lactate dehydrogenase 888 IU/L and creatine kinase 670 μg/L...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28657663/next-generation-deep-sequencing-corrects-diagnostic-pitfalls-of-traditional-molecular-approach-in-a-patient-with-prenatal-onset-of-pompe-disease
#11
Anne Chun-Hui Tsai, Yu-Wen Hung, Cary Harding, David M Koeller, Jing Wang, Lee-Jun C Wong
Pompe disease is a rare inherited metabolic disorder of glycogen metabolism caused by mutations in the GAA gene, encoding the acid α-1,4 glucosidase. Successful diagnosis of Pompe disease is achieved by clinical and biochemical evaluation followed by confirmation with DNA testing. Here, we report a male infant with a prenatal onset of cardiac symptoms and enzyme testing consistent with Pompe disease, but DNA testing by Sanger sequencing revealed no pathogenic variants. Due to the strong indication from clinical, enzymatic, and histological studies (despite the absence of molecular confirmation by traditional Sanger sequencing), enzyme replacement therapy (ERT) for Pompe disease was initiated...
June 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28655209/phylogenetic-diversification-and-developmental-implications-of-poly-r-3-hydroxyalkanoate-gene-cluster-assembly-in-prokaryotes
#12
Gurusamy Kutralam-Muniasamy, Juan Corona-Hernandez, Ravi-Kumar Narayanasamy, Rodolfo Marsch, Fermín Pérez-Guevara
Many polyhydroxyalkanoates (PHAs) system genes, such as phaC, phaA, phaB, phaR, phaP, and phaZ, are often found to be organized in the form of operon-like clusters. In this study, a genome survey was performed to identify such clustered PHA systems among 256 prokaryotic organisms. These data were then used to generate a comprehensive 16S rRNA species tree depicting the phylogenetic distribution of the observed clusters with diverse gene arrangements. In addition, the gene occurrences and physical linkages between PHA system genes were quantitatively estimated...
June 26, 2017: FEMS Microbiology Letters
https://www.readbyqxmd.com/read/28654182/the-d-lactate-dehydrogenase-modld1-is-essential-for-growth-and-infection-related-development-in-magnaporthe-oryzae
#13
Tengsheng Zhou, Li Qin, Xiaohan Zhu, Wenyun Shen, Jitao Zou, Zonghua Wang, Yangdou Wei
Rice blast disease caused by Magnaporthe oryzae is initiated by the attachment of conidia to plant surfaces. Germ tubes emerging from conidia develop melanized appressoria to physically penetrate the host surface. Previous studies revealed that appressorium development requires the breakdown of storage lipids and glycogen that occur in peroxisomes and the cytosol respectively, culminating in production of pyruvate. However, the downstream product(s) entering the mitochondria for further oxidation is unclear...
May 18, 2017: Environmental Microbiology
https://www.readbyqxmd.com/read/28653367/significance-of-l-carnitine-for-human-health
#14
REVIEW
María M Adeva-Andany, Isabel Calvo-Castro, Carlos Fernández-Fernández, Cristóbal Donapetry-García, Ana María Pedre-Piñeiro
Carnitine acyltransferases catalyze the reversible transfer of acyl groups from acyl-coenzyme A esters to l-carnitine, forming acyl-carnitine esters that may be transported across cell membranes. l-Carnitine is a wáter-soluble compound that humans may obtain both by food ingestion and endogenous synthesis from trimethyl-lysine. Most l-carnitine is intracellular, being present predominantly in liver, skeletal muscle, heart and kidney. The organic cation transporter-2 facilitates l-carnitine uptake inside cells...
June 26, 2017: IUBMB Life
https://www.readbyqxmd.com/read/28630259/triacylglycerol-mimetics-regulate-membrane-interactions-of-glycogen-branching-enzyme-implications-for-therapy
#15
Rafael Alvarez, Jesús Casas, David J López, Maitane Ibarguren, Ariadna Suari-Rivera, Silvia Terés, Francisca Guardiola-Serrano, Alexander Lossos, Xavier Busquets, Or Kakhlon, Pablo V Escribá
Adult Polyglucosan Body Disease (APBD) is a neurological disorder characterized by adult-onset neurogenic bladder, spasticity, weakness, and sensory loss. The disease is caused by aberrant glycogen branching enzyme (GBE1-Y329S) yielding less branched, globular and soluble glycogen which tends to aggregate. We explore here whether, despite being a soluble enzyme, GBE1 activity is regulated by protein-membrane interactions. Since soluble proteins can contact a wide variety of cell membranes, we investigated the interactions of purified wild-type and Y329S GBE1 proteins with different types of model membranes (liposomes)...
June 19, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28629821/glycogen-reduction-in-myotubes-of-late-onset-pompe-disease-patients-using-antisense-technology
#16
Elisa Goina, Paolo Peruzzo, Bruno Bembi, Andrea Dardis, Emanuele Buratti
Glycogen storage disease type II (GSDII) is a lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme, leading to the accumulation of glycogen within the lysosomes. The disease has been classified in infantile and late-onset forms. Most late-onset patients share a splicing mutation c.-32-13T > G in intron 1 of the GAA gene that prevents efficient recognition of exon 2 by the spliceosome. In this study, we have mapped the splicing silencers of GAA exon 2 and developed antisense morpholino oligonucleotides (AMOs) to inhibit those regions and rescue normal splicing in the presence of the c...
June 16, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28627510/glycogen-controls-caenorhabditis-elegans-lifespan-and-resistance-to-oxidative-stress
#17
Ivan Gusarov, Bibhusita Pani, Laurent Gautier, Olga Smolentseva, Svetlana Eremina, Ilya Shamovsky, Olga Katkova-Zhukotskaya, Alexander Mironov, Evgeny Nudler
A high-sugar diet has been associated with reduced lifespan in organisms ranging from worms to mammals. However, the mechanisms underlying the harmful effects of glucose are poorly understood. Here we establish a causative relationship between endogenous glucose storage in the form of glycogen, resistance to oxidative stress and organismal aging in Caenorhabditis elegans. We find that glycogen accumulated on high dietary glucose limits C. elegans longevity. Glucose released from glycogen and used for NADPH/glutathione reduction renders nematodes and human hepatocytes more resistant against oxidative stress...
June 19, 2017: Nature Communications
https://www.readbyqxmd.com/read/28627441/clinical-and-genetic-characteristics-of-17-chinese-patients-with-glycogen-storage-disease-type-ixa
#18
Jiangwei Zhang, Yuheng Yuan, Mingsheng Ma, Yan Liu, Weimin Zhang, Fengxia Yao, Zhengqing Qiu
Glycogen storage disease (GSD) type IXa is caused by PHKA2 mutation, which accounts for about 75% of all the GSD type IX cases. Here we first summarized the clinical data and analyzed the PHKA2 gene of 17 Chinese male patients suspected of having GSD type IXa. Clinical symptoms of our patients included hepatomegaly, growth retardation, and liver dysfunction. The clinical and biochemical manifestations improved and even disappeared with age. We detected 14 mutations in 17 patients, including 8 novel mutations; exons 2 and 4 were hot spots in this research...
June 13, 2017: Gene
https://www.readbyqxmd.com/read/28624465/muscle-pathology-in-vici-syndrome-a-case-study-with-a-novel-mutation-in-epg5-and-a-summary-of-the-literature
#19
Carola Hedberg-Oldfors, Niklas Darin, Anders Oldfors
Vici syndrome is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, cataracts, hypopigmentation, microcephaly, gross developmental delay and failure to thrive. It is caused by mutations in EPG5, which encodes a protein involved in the autophagy pathway. Although myopathy is part of the syndrome, few publications have described the muscle pathology. We present a detailed morphological analysis in a boy with Vici syndrome due to a novel homozygous one-base deletion in EPG5 (c...
May 8, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28619994/simultaneous-stimulation-of-glycolysis-and-gluconeogenesis-by-feeding-in-the-anterior-intestine-of-the-omnivorous-gift-tilapia-oreochromis-niloticus
#20
Yong-Jun Chen, Ti-Yin Zhang, Hai-Yan Chen, Shi-Mei Lin, Li Luo, De-Shou Wang
The present study was performed to investigate the roles of anterior intestine in the postprandial glucose homeostasis of the omnivorous Genetically Improved Farmed Tilapia (GIFT). Sub-adult fish (about 173 g) were sampled at 0, 1, 3, 8 and 24 h post feeding (HPF) after 36 h of food deprivation, and the time course of changes in intestinal glucose transport, glycolysis, glycogenesis and gluconeogenesis at the transcription and enzyme activity level, as well as plasma glucose contents, were analyzed. Compared with 0 HPF (fasting for 36 h), the mRNA levels of both ATP-dependent sodium/glucose cotransporter 1 and facilitated glucose transporter 2 increased during 1-3 HPF, decreased at 8 HPF and then leveled off...
June 15, 2017: Biology Open
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