Branching enzymeKinaseCause glycogen storageMetabolismSynthesisGeneticsAccumulation of glycogenAutosomal recessive disorderBreaks down glycogenPhosphorylaseCongenitalActivity and glycogenEnzymesStimulates glycogenDeficiencyLiverHumansGenetic mutationsTaruiAbstractTypeHepaticBreakdownPhenotypeAshkenazi JewishCleavePFKMHypertrophicPhosphofructokinaseFamilialDephosphorylationProteinMuscleAllelesPrevalentDisordersTransgenicMoleculeTissuesInfantileClinicalEnzymaticMechanismResiduesGBE1InsulinConstitutiveHomeostasis
Branching enzyme7
- Anderson disease, also known as glycogen storage disease type IV (MIM 232500), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme. (nih.gov)
- 1,4-alpha-glucan-branching enzyme, also known as brancher enzyme or glycogen-branching enzyme is an enzyme that in humans is encoded by the GBE1 gene. (wikipedia.org)
- Glycogen branching enzyme is an enzyme that adds branches to the growing glycogen molecule during the synthesis of glycogen, a storage form of glucose. (wikipedia.org)
- Since glycogen is a readily mobilized storage form of glucose, the extended glycogen polymer is branched by glycogen branching enzyme to provide glycogen breakdown enzymes, such as glycogen phosphorylase, with many terminal residues for rapid degradation. (wikipedia.org)
- The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. (wikipedia.org)
- Glycogen branching enzyme belongs to the α-amylase family of enzymes, which include α-amylases, pullulanas/isoamylase, cyclodextrin glucanotransferase (CGT), and branching enzyme. (wikipedia.org)
- Shown by x-ray crystallography, glycogen branching enzyme has four marginally asymmetric units each that are organized into three domains: an amino-terminal domain, involved in determining the length of the chain transfer, a carboxyl-terminal domain, involved in substrate preference and catalytic capacity, and a central (α/β) barrel catalytic domain. (wikipedia.org)
Kinase12
- Glycogen synthase kinase 3 (GSK3) is a serine/threonine kinase that has been implicated in pathological conditions such as diabetes and Alzheimer's disease. (rcsb.org)
- Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. (springer.com)
- Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes. (springer.com)
- A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency. (nih.gov)
- Glycogen synthase kinase-3 (GSK-3) a magic enzyme: it's role in diabetes mellitus and glucose homeostasis, interactions with fluroquionlones. (scielo.br)
- This disease is mainly regulated by various enzymes and hormones among which Glycogen synthase kinase-3 (GSK-3) is a principle enzyme and insulin is the key hormone regulating it. (scielo.br)
- Phosphorylated Glycogen Synthase Kinase 3 Beta P Gsk3β, supplied by Cell Signaling Technology Inc, used in various techniques. (bioz.com)
- Plant Glycogen Synthase Kinase 3/ SHAGGY-like kinases (GSKs) have been implicated in numerous biological processes ranging from embryonic, flower, stomata development to stress and wound responses. (biomedcentral.com)
- Glycogen synthase kinase 3 (GSK-3) / SHAGGY kinase (SGG) are multifunctional non receptor serine/threonine kinases. (biomedcentral.com)
- In a previous report, we identified the role of glycogen synthase kinase-3β (GSK-3β) in NF-κB activation by regulating IKKγ/NEMO. (mdpi.com)
- However, there was immunohistochemical reactivity for phosphorylated AMP-dependent kinase (p-AMPK Thr172) and glycogen synthase kinase 3 (GSK3) phosphorylation (p-GSK3 Ser12), and nuclear expression of cyclin D1. (dundee.ac.uk)
- Objective: Glycogen storage disease type IX (GSD-IX) is a rare primary glucose metabolism abnormality caused by phosphorylase kinase deficiency and a series of pathogenic gene mutations. (bvsalud.org)
Cause glycogen storage1
- Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. (nih.gov)
Metabolism11
- Overview of disorders of glycogen metabolism. (springer.com)
- Glycogen storage disease type III (GSD-III) is an inborn error of glycogen metabolism caused by a deficiency of the glycogen debranching enzyme, amylo-1,6-glucosidase,4-α-glucanotransferase (AGL). (degruyter.com)
- Glycogen storage diseases (GSDs) are a group of inborn errors of metabolism, typically caused by enzyme defects, resulting in a buildup of glycogen in the liver, muscles, and other organs. (arupconsult.com)
- PURPOSE: Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. (koreamed.org)
- This mutation results in an increase in glycogen synthesis in the muscle tissue of affected horses and a disruption in normal energy metabolism. (dengie.com)
- BACKGROUND: Glycogen storage disease type VI (GSD VI) is a rare disease in which liver glycogen metabolism is impaired by mutations in the glycogen phosphorylase L (PYGL). (bvsalud.org)
- Glycogen synthesis in neurons must be tightly controlled due to neuronal sensitivity to perturbations in glycogen metabolism. (uky.edu)
- Structure-guided mutagenesis combined with biophysical and biochemical analyses reveal the basis for normal function of laforin in glycogen metabolism. (uky.edu)
- These data provide fundamental insights connecting glycogen metabolism to neurodegenerative disease. (uky.edu)
- There are a myriad of mutations identified in genes encoding cardiac transcription factors, ion channels, gap junctions, energy metabolism regulators, lamins and other structural proteins. (medscape.com)
- Хвороби накопичення глікогену Glycogen storage diseases are carbohydrate metabolism disorders. (msdmanuals.com)
Synthesis8
- More specifically, during glycogen synthesis, a glucose 1-phosphate molecule reacts with uridine triphosphate (UTP) to become UDP-glucose, an activated form of glucose. (wikipedia.org)
- Importantly, glycogen synthase can only catalyze the synthesis of α-1,4-glycosidic linkages. (wikipedia.org)
- Protein targeting to glycogen (PTG) is a scaffolding protein that targets protein phosphatase 1α (PP1α) to glycogen, and links it to enzymes involved in glycogen synthesis and degradation. (jci.org)
- These mice have reduced glycogen stores in adipose tissue, liver, heart, and skeletal muscle, corresponding with decreased glycogen synthase activity and glycogen synthesis rate. (jci.org)
- These data suggest that PTG plays a critical role in glycogen synthesis and is necessary to maintain the appropriate metabolic balance for the partitioning of fuel substrates between glycogen and lipid. (jci.org)
- In recent years, glycogen, the storage form of glucose, has been shown to cause rapid aging upon forced synthesis in healthy neurons. (biologists.com)
- Glycogen accumulation is a consequence of impaired degradation or excess synthesis. (medscape.com)
- There are many numbered and named types, all of which are caused by deficiencies of enzymes involved in glycogen synthesis or. (msdmanuals.com)
Genetics1
- In addition, annotations are classified as classical genetics or high-throughput (e.g., large scale survey, systematic mutation set). (yeastgenome.org)
Accumulation of glycogen1
Autosomal recessive disorder2
- Glycogen storage disease (GSD) VII (Tarui disease) is an autosomal recessive disorder caused by a deficiency of phosphofructokinase (PFK), the enzyme that catalyzes the rate-limiting step in glycolysis. (medscape.com)
- Glycogen storage disease type Ia (GSDIa) is a severe autosomal recessive disorder caused by deficiency of the enzyme D-glucose-6-phosphatase (G6Pase). (qxmd.com)
Breaks down glycogen2
- Phosphofructokinase is involved in the sequence of events that breaks down glycogen to provide energy to muscle cells. (medlineplus.gov)
- It is caused by mutations in a gene that makes an enzyme that breaks down glycogen, or stored sugar, in cells. (newstribune.com)
Phosphorylase6
- Together with phosphorylase , glycogen debranching enzymes function in glycogen breakdown and glucose mobilization. (wikidoc.org)
- When phosphorylase has digested a glycogen branch down to four glucose residues, it will not remove further residues. (wikidoc.org)
- Glycogen debranching enzymes assist phosphorylase, the primary enzyme involved in glycogen breakdown , mobilize glycogen stores. (wikidoc.org)
- Phosphorylase can only cleave α-1,4- glycosidic bond between adjacent glucose molecules in glycogen but branches exist as α-1,6 linkages. (wikidoc.org)
- because 1 in 10 residues is branched, cleavage by phosphorylase alone would not be sufficient in mobilizing glycogen stores. (wikidoc.org)
- Thus the debranching enzymes, transferase and α-1,6- glucosidase converts the branched glycogen structure into a linear one, paving the way for further cleavage by phosphorylase. (wikidoc.org)
Congenital1
- Role of CSF3R mutations in the pathomechanism of congenital neutropenia and secondary acute myeloid leukemia. (cdc.gov)
Activity and glycogen3
- Methods: DNA was sequenced and GAA activity and glycogen content were measured in leukocytes, fibroblasts and muscle. (eur.nl)
- GAA activity and glycogen content in fibroblasts and muscle tissue in healthy controls, adult patients with Pompe disease and classic-infantile patients were compared with those of the three index patients. (eur.nl)
- In all three cases the GAA activity and the glycogen content in fibroblasts were within the same range as in classic-infantile Pompe disease, but the activity and glycogen content in muscle were both within the adult range. (eur.nl)
Enzymes5
- These enzymes normally catalyze reactions that ultimately convert glycogen compounds to glucose. (medscape.com)
- Glycogen binding enzymes in other organisms have also been crystallized and structurally determined, demonstrating both similarity and variation to GBE found in Escherichia coli. (wikipedia.org)
- Together with phosphorylases , debranching enzymes mobilize glucose reserves from glycogen deposits in the muscles and liver. (wikidoc.org)
- Proteins that catalyze both functions are referred to as glycogen debranching enzymes (GDEs). (wikidoc.org)
- When glucosyltransferase and glucosidase are catalyzed by distinct enzymes, "glycogen debranching enzyme" usually refers to the glucosidase enzyme . (wikidoc.org)
Stimulates glycogen1
- In the gene for the enzyme called glycogen synthase (the enzyme that stimulates glycogen production), a single mutation resulted in an overactive enzyme. (dengie.com)
Deficiency5
- Enzyme deficiency results in glycogen accumulation in tissues, especially liver and skeletal muscle cells. (medscape.com)
- Glycogen synthase deficiency (Glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations. (springer.com)
- Indicated in combination with cipaglucosidase alfa, a hydrolytic lysosomal glycogen-specific enzyme, for adults with late-onset Pompe disease (lysosomal acid alpha-glucosidase [GAA] deficiency) weighing ≥40 kg who are not improving on their current enzyme replacement therapy (ERT). (medscape.com)
- Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. (medscape.com)
- Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency. (medscape.com)
Liver4
- Glycogen is a complex multibranched polysaccharide that acts as energy storage in the human body and is formed mainly in the liver and skeletal muscles. (medscape.com)
- Glycogen breakdown is highly regulated in the body, especially in the liver , by various hormones including insulin and glucagon , to maintain a homeostatic balance of blood-glucose levels. (wikidoc.org)
- It serves as a glucose sensor of the insulin-producing pancreatic cells, controls the conversion of glucose to glycogen in the liver, and regulates hepatic glucose production. (generalpatent.com)
- Liver biopsy pathological examination results indicated glycogen storage disease. (bvsalud.org)
Humans1
- Several different genetic mutations have been identified in HCM in humans and no doubt further mutations probably also exist in cats. (vin.com)
Genetic mutations1
- Genetic mutations affect the CFTR gene, which is essential for the regulation of salt and water movements across cell membranes. (nihr.ac.uk)
Tarui3
- Mutations in PFKM gene have been related with glycogen storage disease type VII, also identified as Tarui disease. (prospecbio.com)
- Tarui disease (ie, glycogen-storage disease type VII) has since been described in approximately 100 patients worldwide. (medscape.com)
- Tarui disease is the least common glycogen-storage disease. (medscape.com)
Abstract1
- abstract = "AimsRenal tumours have recently been described in association with mutations in the gene encoding the B subunit of succinate dehydrogenase, a mitochondrial Krebs cycle and electron transport chain enzyme (SDHB-associated renal cell carcinomas). (dundee.ac.uk)
Type14
- Glycogen storage disease type IV has a broad clinical spectrum ranging from a perinatal lethal form to a nonprogressive later-onset disease in adults. (nih.gov)
- This case report also highlights the need for a more comprehensive search for large deletion mutations associated with glycogen storage disease type IV, especially if routine GBE1 gene sequencing results are equivocal. (nih.gov)
- Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. (medlineplus.gov)
- Interestingly, GSD type 0 also is described, which is due to defective glycogen synthase. (medscape.com)
- Mutations in this gene are associated with glycogen storage disease type IV (also known as Andersen's disease). (wikipedia.org)
- Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. (medscape.com)
- Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. (medscape.com)
- Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III" Clinical Chemistry and Laboratory Medicine , vol. 46, no. 9, 2008, pp. 1245-1249. (degruyter.com)
- [1] When glycogen breakdown is compromised by mutations in the glycogen debranching enzyme, metabolic diseases such as Glycogen storage disease type III can result. (wikidoc.org)
- PURPOSE: Menkes disease is an X-linked recessively inherited disorder caused by the mutation of the ATP7A gene encoding copper-transporting P-type ATPase. (koreamed.org)
- Glucose infusion paradoxically accelerates degradation of adenine nucleotide in working muscle of patients with glycogen storage disease type VII. (medscape.com)
- Glycogen storage disease type 1b is a metabolic disorder resulting in an inability to shuttle glucose-6-phosphate across the sarcoplasmic/endoplasmic reticulum (SR/ER) lumen. (endocrine-abstracts.org)
- Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. (cdc.gov)
- Mutations in the alpha-dystrobrevin gene are associated with Autosomal Dominant type of Noncompaction of the Left Ventricular Myocardium. (bvsalud.org)
Hepatic2
- Mutation of the SoLute Carrier 37a4 (slc37a4) or glucose-6-phosphate transporter (G6PT) gene responsible for the distribution of G-6-P across this membrane leads to, hypoglycemia, hepatic glycogen accumulation, hyperlipidemia, resulting in life-limiting outcomes including growth retardation and neutropeni. (endocrine-abstracts.org)
- Here, we reported first Turkish HTGTI patient with a novel mutation of GPD1, having hypertriglyceridemia, hepatomegaly, growth retardation and hepatic steatosis. (bvsalud.org)
Breakdown4
- A lack of glycogen breakdown interferes with the function of muscle cells. (medlineplus.gov)
- This gene provides instructions for making one piece (the PFKM subunit) of an enzyme called phosphofructokinase, which plays a role in the breakdown of glycogen . (medlineplus.gov)
- A debranching enzyme is a molecule that helps facilitate the breakdown of glycogen , which serves as a store of glucose in the body, through glucosyltransferase and glucosidase activity. (wikidoc.org)
- In an unaffected individual, active muscle is initially fueled by glucose derived from glycogen breakdown and then from blood-borne sources such as glucose and free fatty acids. (medscape.com)
Phenotype3
- The involvement of GlgE in glycogen biosynthesis was discovered twenty years ago when the phenotype of a temperature-sensitive Mycobacterium smegmatis mutation was rescued by the glgE gene. (jic.ac.uk)
- Conclusions - We have been able to reconcile apparently contradictory observations and shed light on the basis for the phenotype of the temperature-sensitive mutation. (jic.ac.uk)
- We investigated the genotype-phenotype correlation in three such adult patients and measured the GAA activity as well as the glycogen content in muscle and fibroblasts in order to better understand the clinical course. (eur.nl)
Ashkenazi Jewish2
- Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. (qxmd.com)
- While numerous mutations have been found in cosmopolitan European populations, Ashkenazi Jewish (AJ) patients appear to primarily carry the R83C mutation, but possibly also the Q347X mutation found generally in Caucasians. (qxmd.com)
Cleave1
- It binds to mannose-6-phosphate receptors and then is transported into lysosomes, then undergoes proteolytic cleavage that results in increased enzymatic activity and ability to cleave glycogen. (medscape.com)
PFKM3
- Mutations in the PFKM gene cause GSDVII. (medlineplus.gov)
- PFKM gene mutations result in the production of PFKM subunits that have little or no function. (medlineplus.gov)
- This compensation may help explain why other tissues are not affected by PFKM gene mutations. (medlineplus.gov)
Hypertrophic1
- Glycogen storage diseases presenting as hypertrophic cardiomyopathy. (springer.com)
Phosphofructokinase2
- As a result, no functional phosphofructokinase is formed in skeletal muscles, and glycogen cannot be completely broken down. (medlineplus.gov)
- Mutations in muscle phosphofructokinase gene. (medscape.com)
Familial1
Dephosphorylation1
Protein1
- Genetic sequencing of P. falciparum ribosomal L4 protein ized trial in The Gambia, AZ MDA given in 3 doses (20 showed no mutations associated with AZT resistance. (cdc.gov)
Muscle8
- In skeletal muscle, the cells' main source of energy is stored as glycogen. (medlineplus.gov)
- Partially broken down glycogen then builds up in muscle cells. (medlineplus.gov)
- Late-onset Pompe disease (LOPD) is a rare genetic disorder produced by mutations in the GAA gene and is characterized by progressive muscle weakness. (nih.gov)
- horses that carry the mutation are prone to tying up and other muscle problems such as weakness. (rvc.ac.uk)
- Until now, no-one knew the precise mechanism by which the mutation caused increased enzyme activity in muscle. (rvc.ac.uk)
- This hyperactivity of mutant equine glycogen synthase explains the increased muscle glycogen and the accumulation of polysaccharide that leads to the clinical problems in affected horses. (rvc.ac.uk)
- G can have very low GAA activity in fibroblasts but express higher activity in muscle and store less glycogen in muscle than patients with classic-infantile Pompe disease. (eur.nl)
- [ 1 ] Increased muscle glycogen content and high levels of hexose monophosphates were noted. (medscape.com)
Alleles1
- Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
Prevalent2
- These results indicate that R83C is the only prevalent mutation for GSDIa in the Ashkenazi population. (qxmd.com)
- A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase. (rvc.ac.uk)
Disorders2
- Other specific causes that have been implicated include acromegaly, obesity, muscular dystrophy and glycogen storage disorders. (vin.com)
- Human genetic studies have identified mutations in the sodium channel SCN5A gene causing tachyarrhythmia disorders, as well as progressive cardiac conduction system diseases, or overlapping syndromes. (medscape.com)
Transgenic1
- In the present study, using transgenic fly lines for the human glycogen synthase, we investigated the sex-specific effects of glycogen on stress resistance, fitness, and survival. (biologists.com)
Molecule1
- Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. (wikipedia.org)
Tissues1
- Thus, tissues deficient in PFK cannot use free or glycogen-derived glucose as a fuel source. (medscape.com)
Infantile1
- OBJECTIVES: Transient infantile hypertriglyceridemia (HTGTI) is caused by mutations in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene. (bvsalud.org)
Clinical1
- The clinical characteristics, gene analysis, and functional verification of a mutation in a child with hepatomegaly are summarized here to clarify the pathogenic cause of the disease. (bvsalud.org)
Enzymatic1
- The hexose monophosphates, which accumulate because of the enzymatic block, activate glycogen synthetase. (medscape.com)
Mechanism1
- Analyses of LD patient mutations define the mechanism by which subsets of mutations disrupt laforin function. (uky.edu)
Residues1
- 4-α-D-glucanotransferase ( EC 2.4.1.25 ), or glucosyltransferase , transfers three glucose residues from the four-residue glycogen branch to a nearby branch. (wikidoc.org)
GBE11
- Both of these patients shared the same frameshift mutation (c.288delA, pGly97GlufsX46) in the GBE1 gene. (nih.gov)
Insulin1
Constitutive1
- RT-PCR of peripheral blood from children and his mother confirmed that the mutation had caused the skipping of exon 3 during the constitutive splicing of the PHKA2 gene. (bvsalud.org)
Homeostasis2
- Therefore, it is the need of the day to properly understand functions and mechanisms of GSK-3, especially its role in glucose homeostasis via effects on glycogen synthase. (scielo.br)
- Glycogen is the major mammalian glucose storage cache and is critical for energy homeostasis. (uky.edu)