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Disease on EC 5.4.2.2 - phosphoglucomutase (alpha-D-glucose-1,6-bisphosphate-dependent)

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Abortion, Spontaneous
Genetic polymorphisms and human reproduction: a study of phosphoglucomutase in spontaneous abortion.
Phosphoglucomutase genetic polymorphism and human fertility.
Phosphoglucomutase genetic polymorphism of newborns.
Adenocarcinoma of Lung
Identification of key differentially expressed mRNAs and microRNAs in non-small cell lung cancer using bioinformatics analysis.
Agammaglobulinemia
Common Variable Immunodeficiency and Other Immunodeficiency Syndromes in Bronchiectasis.
Anemia
[Erythrocyte enzymes; activity of glycolytic enzymes of erythrocytes in anemia: phosphoglucomutase, phosphohexoisomerase, diphosphofructaldolase, lactic acid dehydrogenase.]
Anemia, Hemolytic
[Enzymatic activity of glycolysis in the erythrocytes in the course of an experimental hemolytic anemia: phosphoglucomutase, aldolase and enolase activity.]
Asthma
Genetic-biochemical criteria for individual sensitivity in development of occupational bronchopulmonary diseases.
Ataxia Telangiectasia
Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran.
Autoimmune Lymphoproliferative Syndrome
Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation.
Breast Neoplasms
miR-1224-3p Promotes Breast Cancer Cell Proliferation and Migration through PGM5-Mediated Aerobic Glycolysis.
Bronchiectasis
Common Variable Immunodeficiency and Other Immunodeficiency Syndromes in Bronchiectasis.
Bronchitis, Chronic
Genetic-biochemical criteria for individual sensitivity in development of occupational bronchopulmonary diseases.
Carcinogenesis
[Glycogen and enzymes involved in its biosynthesis in rat liver during liver carcinogenesis caused by diethylnitrosamine]
Carcinoma, Hepatocellular
Phosphoglucomutase 1 inhibits hepatocellular carcinoma progression by regulating glucose trafficking.
[Characteristics of hexosephosphate transformation regulation in Zajdela hepatoma and the liver of tumor-bearing rats]
Cardiomyopathy, Dilated
Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy.
News on Clinical Details and Treatment in PGM1-CDG.
Chagas Disease
The identification by isoenzyme patterns of two distinct strain-groups of Trypanosoma cruzi, circulating independently in a rural area of Brazil.
Chordoma
The nature of cytoplasmic vacuoles in chordoma cells. A correlative enzyme and electron microscopic histochemical study.
Choriocarcinoma
Enzymes of normal and malignant trophoblast: phosphoglucose isomerase, phosphoglucomutase, hexokinase, lactate dehydrogenase, and alkaline phosphatase.
Coccidiosis
[Histochemistry of nucleoside phosphatases and phosphoglucomutase in the small intestine during coccidiosis in piglets]
Common Variable Immunodeficiency
Common Variable Immunodeficiency and Other Immunodeficiency Syndromes in Bronchiectasis.
Congenital Disorders of Glycosylation
News on Clinical Details and Treatment in PGM1-CDG.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.
A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality.
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.
Limitations of galactose therapy in phosphoglucomutase 1 deficiency.
News on Clinical Details and Treatment in PGM1-CDG.
PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure.
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
Cystic Fibrosis
Duffy blood group system, phosphoglucomutase and glutamate-pyruvate transminase in homo- and heterozygous cases of mucoviscidosis.
Cysts
[Distribution of zymodemes of Entamoeba histolytica from different areas of China]
Dermatitis
Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation.
Diabetes Mellitus, Experimental
[UDPG pyrophosphorylase and phosphoglucomutase activity in the liver of rats with alloxan diabetes]
Diabetes Mellitus, Type 1
Genetic and non genetic factors in the outcome of diabetic pregnancy.
Down Syndrome
Types of enzymatic overdosing in trisomy 21: erythrocytic superoxide dismutase-AJ and phosphoglucomutase.
Dysentery, Amebic
[Distribution of zymodemes of Entamoeba histolytica from different areas of China]
Dyslipidemias
Diabetogenic effects of Parthinium hysterophorous induced allergic rhinitis.
Eczema
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
Endometrial Neoplasms
Isoenzymes of hexokinase, 6-phosphogluconate dehydrogenase, phosphoglucomutase and lactate dehydrogenase in uterine cancer.
Endometriosis
[Genetic aspects of endometriosis: features of the distribution of polymorphic gene frequencies]
Ependymoma
[Histochemical demonstration of glial enzyme activity. II. Reagent and neoplastic glia]
Essential Hypertension
[Genetic markers and susceptibility to hypertension]
Fetal Macrosomia
Genetic and non genetic factors in the outcome of diabetic pregnancy.
On the association between maternal phosphoglucomutase 1 (PGM1) and fetal macrosomia in diabetic pregnancy.
Galactosemias
Minimizing false positive diagnoses in newborn screening for galactosemia.
[Biochemical mechanisms of the development of hereditary galactosemia in W/SSM strain rats]
[Hereditary galactosemia in rats: biochemical mechanisms of the disease]
[Hypergalactosemia in newborns as uncovered by the Austrian screening program in 12 years (author's transl)]
Genetic Diseases, Inborn
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Glycogen Storage Disease
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.
Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.
Infantile muscle glycogen storage disease: phosphoglucomutase deficiency with decreased muscle and serum carnitine levels.
Limitations of galactose therapy in phosphoglucomutase 1 deficiency.
Muscle glycogenosis due to phosphoglucomutase 1 deficiency.
PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure.
Hematologic Diseases
[Observations on the behavior of erythrocytic phosphoglucomutase activity in patients with neoplasms and malignant blood diseases.]
Hepatitis
Serum enzymes (transaminases, phosphoglucomutase, fumarase) in viral hepatitis during prednisone. (delta 1-cortisone) therapy.
Serum phosphoglucomutase activity in human virus hepatitis.
[Activation of phosphoglucomutase in blood of hepatitis patients.]
[Phosphoglucomutase activity of blood in human viral hepatitis and in other icterogenic liver diseases.]
[Phosphoglucomutase and hexokinase activities of various organs (liver, brain, kidney, myocardium) in the course of experimental MHV-3 hepatitis virus.]
[Recent research on the enzymatic activity of the liver and blood in experimental MHV-3 virus hepatitis: adenylpyrophosphatase, succinic dehydrogenase, rhodanese and phosphoglucomutase.]
Hepatitis, Viral, Human
[Phosphoglucomutase activity of blood in human viral hepatitis and in other icterogenic liver diseases.]
Hepatomegaly
Associations between polymorphic variety and disease susceptibility in two New Guinea populations.
Hypersensitivity
Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation.
Identification of allergens responsible for canine cutaneous adverse food reactions to lamb, beef and cow's milk.
Hyperthyroidism
[Intraerythrocytic enzyme activities in euthyroid subjects and hyperthyroid patients before treatment and following stabilization of metabolism using radioiodine therapy]
Hypothyroidism
News on Clinical Details and Treatment in PGM1-CDG.
Infections
A defect in carbohydrate metabolism ameliorates symptom severity in virus-infected Arabidopsis thaliana.
Capsule Production and Glucose Metabolism Dictate Fitness during Serratia marcescens Bacteremia.
Changes in the contents of metabolites and enzyme activities in rice plants responding to Rhizoctonia solani Kuhn infection: activation of glycolysis and connection to phenylpropanoid pathway.
Recombinant phosphoglucomutase and CAMP factor as potential subunit vaccine antigens induced high protection against Streptococcus iniae infection in flounder (Paralichthys olivaceus).
Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
[Effects of Brucella phosphoglucomutase on inducing infection of trophoblastic cells].
[Metabolic aspects of hepatic tissue in infection of the mouse from EDP virus. I. Phosphoglucomutase, aldolase and enolase activity.]
Infertility, Male
Plastidic phosphoglucomutase and ADP-glucose pyrophosphorylase mutants impair starch synthesis in rice pollen grains and cause male sterility.
Intestinal Volvulus
Phosphoglucomutase and trehalase isoenzymes of Venezuelan simulium vectors of Onchocerca volvulus.
Job Syndrome
Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation.
Hyper-IgE syndromes: reviewing PGM3 deficiency.
Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.
Leishmaniasis, Cutaneous
Development of Assays Using Hexokinase and Phosphoglucomutase Gene Sequences That Distinguish Strains of Leishmania tropica from Different Zymodemes and Microsatellite Clusters and Their Application to Palestinian Foci of Cutaneous Leishmaniasis.
Isoenzyme characterization of Leishmania isolated from human cases with localized cutaneous leishmaniasis from the State of Campeche, Yucatan Peninsula, Mexico.
Leprosy
Genetic markers and leprosy in South African negroes: Part II. Erythrocyte enzyme polymorphisms.
Leukemia
Cytotoxic action of low dose Ara-C. Investigations in a marrow grafted patient with relapse.
Liver Abscess, Amebic
Evaluation of Entamoeba histolytica recombinant phosphoglucomutase protein for serodiagnosis of amoebic liver abscess.
Liver Cirrhosis
[Hypergalactosemia in newborns as uncovered by the Austrian screening program in 12 years (author's transl)]
Liver Diseases
[Phosphoglucomutase activity of blood in human viral hepatitis and in other icterogenic liver diseases.]
Loeys-Dietz Syndrome
Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation.
Malaria
Resistance to falciparum malaria among adults in central Sudan.
Metabolic Diseases
A missense variant remote from the active site impairs stability of human phosphoglucomutase 1.
Muscular Diseases
Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency.
Muscular Dystrophies
Phosphoglucomutase activity in hereditary muscular dystrophy in mice.
Muscular Dystrophy, Duchenne
Erythrocyte enzyme allotypes in the X-linked recessive disorders, Duchenne muscular dystrophy and haemophilia-A hemizygotes and heterozygotes.
Myocardial Infarction
Phosphoglucomutase activity as a novel biomarker in patients with acute myocardial infarction.
[Transaminase and phosphoglucomutase activity of the blood of the coronary venous sinus after experimental myocardial infarct.]
Neoplasm Metastasis
PGM5 is a promising biomarker and may predict the prognosis of colorectal cancer patients.
[Geycogen content and the enzymatic system of its biosynthesis in normal and tumorous human tissues]
Neoplasms
A statistical model for predicting response of breast cancer patients to cytotoxic chemotherapy.
Characterization of a human follicular thyroid carcinoma cell line (UCLA RO 82 W-1).
Fibroblasts Mobilize Tumor Cell Glycogen to Promote Proliferation and Metastasis.
Human neoplastic and normal cells in tissue culture. I. Cell lines derived from malignant melanomas and normal melanocytes.
Isoenzymes of hexokinase, 6-phosphogluconate dehydrogenase, phosphoglucomutase and lactate dehydrogenase in uterine cancer.
Kinetic modeling of glucose central metabolism in hepatocytes and hepatoma cells.
PGM5 is a promising biomarker and may predict the prognosis of colorectal cancer patients.
[A study on serum phosphohexose-isomerase and serum phosphoglucomutase in the living body experimentally induced with cancer, with special reference to the normal value and its locational differences of the cancers.]
[A study on serum phosphohexose-isomerase and serum phosphoglucomutase in the living body experimentally induced with cancer, with special reference to the relationship with operation.]
[CLINICAL STUDIES ON SERUM GLYCOLYTIC ENZYMES IN CANCER PATIENTS; ON PHOSPHOHEXOSE ISOMERASE, PHOSPHOGLUCOMUTASE AND LACTIC DEHYDROGENASE ACTIVITIES.]
[Geycogen content and the enzymatic system of its biosynthesis in normal and tumorous human tissues]
[Histochemical demonstration of glial enzyme activity. II. Reagent and neoplastic glia]
[Observations on the behavior of erythrocytic phosphoglucomutase activity in patients with neoplasms and malignant blood diseases.]
Nephrosis
[Glycolytic activity in experimental nephrosis induced by anti-kidney serum. I. Aldolase; phosphoglucomutase.]
Neutropenia
Neonatal-onset T(-)B(-)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3.
Onchocerciasis
Phosphoglucomutase and trehalase isoenzymes of Venezuelan simulium vectors of Onchocerca volvulus.
Population relationships of Simulium yahense and Simulium sanctipauli in the Firestone Rubber Plantation at Harbel, Liberia.
Osteosarcoma
Syntenic conservation of HSP70 genes in cattle and humans.
phosphoglucomutase (alpha-d-glucose-1,6-bisphosphate-dependent) deficiency
Acquired erythroenzymopathies in blood disorders: study of 200 cases.
Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency.
Effects of alpha-phosphoglucomutase deficiency on cell wall properties and fitness in Streptococcus gordonii.
Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.
Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 Deficiency.
Infantile muscle glycogen storage disease: phosphoglucomutase deficiency with decreased muscle and serum carnitine levels.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Limitations of galactose therapy in phosphoglucomutase 1 deficiency.
Multiple phenotypes in phosphoglucomutase 1 deficiency.
Muscle glycogenosis due to phosphoglucomutase 1 deficiency.
Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function.
News on Clinical Details and Treatment in PGM1-CDG.
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Search for rare liver diseases: The case of glycosylation defects mimicking Wilson Disease ->.
What have we learned about glycogenosis in recent years?
[A case of adult onset phosphoglucomutase deficiency]
[A case of phosphoglucomutase deficiency with decreased muscle and serum carnitine]
[Biochemical analysis using biopsied muscle in 72 patients with metabolic myopathies]
[Electrophysiological evidence of impaired neuromuscular junction in a case of phosphoglucomutase 1 deficiency manifesting fluctuating muscle weakness].
[Erratum: [Advance Publication] Electrophysiological evidence of impaired neuromuscular junction in a case of phosphoglucomutase 1 deficiency manifesting fluctuating muscle weakness].
[Hypergalactosemia in newborns as uncovered by the Austrian screening program in 12 years (author's transl)]
[Phosphoglucomutase deficiency]
phosphoglycerate kinase deficiency
[Biochemical analysis using biopsied muscle in 72 patients with metabolic myopathies]
Precancerous Conditions
A signature of six genes highlights defects on cell growth and specific metabolic pathways in murine and human hepatocellular carcinoma.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Subtyping of erythrocyte phosphoglucomutase-1 as a genetic marker for bone-marrow engraftment and hematopoietic chimerism after allogeneic bone-marrow transplantation in a patient with acute lymphoblastic leukemia.
Primary Immunodeficiency Diseases
Multiplexed detection of DOCK8, PGM3 and STAT3 proteins for the diagnosis of Hyper-Immunoglobulin E syndrome using gold nanoparticles-based immunosensor array platform.
Prostatic Neoplasms
Down-regulation of phosphoglucomutase 3 mediates sulforaphane-induced cell death in LNCaP prostate cancer cells.
Proteinuria
Associations between polymorphic variety and disease susceptibility in two New Guinea populations.
Rhabdomyolysis
Search for rare liver diseases: The case of glycosylation defects mimicking Wilson Disease ->.
Sarcoma 180
5-Iodoribose 1-phosphate, an analog of ribose 1-phosphate. Enzymatic synthesis and kinetic studies with enzymes of purine, pyrimidine, and sugar phosphate metabolism.
Seizures
[Changes in cerebral glycogen content during strychnine convulsions. I. Behavior of phosphorylase and phosphoglucomutase with progressively increasing doses of the drug]
Severe Combined Immunodeficiency
Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation.
Neonatal-onset T(-)B(-)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3.
Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran.
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
Silicosis
Genetic-biochemical criteria for individual sensitivity in development of occupational bronchopulmonary diseases.
[Genetic aspects of silicosis: polymorphic gene distribution frequency]
Skin Diseases
Psoriasis vulgaris and genetic markers.
Starvation
Effect of starvation on fructose diphosphatase, glucose-6-phosphatase and phosphoglucomutase activities in organs of Pseudemys (Chrysemys) scripta elegans.
Stomach Neoplasms
[Serum phosphoglucomutase activity in stomach cancer patients]
Teratoma
Diverse origins of multiple ovarian teratomas in a single individual.
Tuberculosis
Association between phosphoglucomutase (PGM1) and group-specific component (Gc) subtypes and tuberculosis.
Heterologous expression and biochemical characterization of recombinant alpha phosphoglucomutase from Mycobacterium tuberculosis H37Rv.
Tuberous Sclerosis
Serum and tissue proteins in tuberous sclerosis. I. Serum and red-cell polymorphic systems.
Uterine Neoplasms
Isoenzymes of hexokinase, 6-phosphogluconate dehydrogenase, phosphoglucomutase and lactate dehydrogenase in uterine cancer.
Vitiligo
Distribution of serum proteins, red cell enzymes and haemoglobins in vitiligo.
Wasting Syndrome
Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation.
Wiskott-Aldrich Syndrome
Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation.