AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and Processes
GlucuronidaseElectrophoresis, Cellulose AcetateMucopolysaccharidosis IMucopolysaccharidosis VIIMucopolysaccharidosis VIMucopolysaccharidosis IIIMucopolysaccharidosis IIMucopolysaccharidosesMucopolysaccharidosis IVIduronidaseN-Acetylgalactosamine-4-SulfataseChondro-4-SulfataseIduronate SulfataseLysosomesChondroitinsulfatasesEnzyme Replacement TherapyGlycosaminoglycansSulfatasesMice, Inbred StrainsLiverAcetylglucosaminidaseStomatognathic SystemLysosomal Storage DiseasesEnzyme TherapyGenetic TherapyTestosteroneKidneyCat DiseasesGenesIduronic AcidDisease Models, AnimalGenetic Vectors
SyndromeLysosomal enzymeGlycosaminoglycansEnzyme deficienciesAutosomal recessiveScheieTypeGeneticGeneSubstrateDeficientMiceNewbornCanineDiseaseEnzymesMechanismsHumanActivityPatientsFormConditionsBloodLysosomal storageEnzymeSyndromeGUSBDiseaseCalled lysosomal storageGlycosidaseHurlerMutationsAccumulationDisorderMetabolicAbnormalitiesTypesTermPresent
Syndrome6
  • Beta-galactosidase enzyme is deficient in the following conditions: GM1 gangliosidosis, Morquio syndrome B, and galactosialidosis. (mayocliniclabs.com)
  • Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). (medscape.com)
  • The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness. (medscape.com)
  • Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients. (medscape.com)
  • High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome). (medscape.com)
  • He studies a disease in mice that mimics mucopolysaccharidosis type VII (MPS VII), also know as Sly syndrome in humans. (myvmc.com)
Lysosomal enzyme2
  • Most lysosomal enzyme deficiencies are catastrophic illnesses with no generally available treatments. (mcmaster.ca)
  • Mucopolysaccharidosis type II (MPS II) is an X-linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of the lysosomal enzyme iduronate-2-sulfatase and consequent widespread storage of glycosaminoglycans, leading to several clinical consequences, with progressive manifestations which most times includes cognitive decline. (bvsalud.org)
Glycosaminoglycans2
  • Human β-glucuronidase is a type of glucuronidase (a member of glycosidase Family 2) that catalyzes hydrolysis of β-D-glucuronic acid residues from the non-reducing end of mucopolysaccharides (also referred to as glycosaminoglycans) such as heparan sulfate. (wikipedia.org)
  • Affected dogs have insufficient activity of the Enzyme beta-glucuronidase, which is responsible for breaking down glycosaminoglycans (GAGs). (pawprintgenetics.com)
Enzyme deficiencies1
Autosomal recessive1
  • Mucopolysaccharidosis VII (shepherd type) is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. (pawprintgenetics.com)
Scheie2
Type9
  • β-Glucuronidase contains several notable structural formations, including a type of β-barrel known as a jelly roll barrel and a TIM barrel. (wikipedia.org)
  • Though the particular type of nucleophilic substitution employed by β-glucuronidase is unclear, evidence for the mechanisms of their homologues in the glycosidase family suggests that these reactions are qualitatively SN2 reactions. (wikipedia.org)
  • Mucopolysaccharidosis (MPS) VII (shepherd type) is an inherited Lysosomal Storage Disorder affecting dogs. (pawprintgenetics.com)
  • Genetic testing of the GUSB gene will reliably determine whether a dog is a genetic Carrier of mucopolysaccharidosis VII (shepherd type). (pawprintgenetics.com)
  • Molecular diagnostic tests for ascertainment of genotype at the mucopolysaccharidosis type VII locus in dogs. (pawprintgenetics.com)
  • We have used the beta-glucuronidase-deficient mouse model of mucopolysaccharidosis type VII (MPS VII) to develop an alternative approach to therapy. (mcmaster.ca)
  • Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy. (medscape.com)
  • Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic. (medscape.com)
  • Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. (medscape.com)
Genetic2
  • Molybdenum cofactor deficiency (MoCD) is a rare genetic disorder that results from one of several single gene defects in the biosynthetic pathway of molybdenum cofactor. (conduent.com)
  • The researchers found no tumours in a group of transgenic mice whose DNA was altered with the insertion of the human beta-glucuronidase gene using genetic engineering techniques rather than the viral vector. (myvmc.com)
Gene2
  • This extremely rare lysosomal storage disease affects only about 1 in 250,000 babies, who are born with two disabled copies of the beta-glucuronidase gene. (myvmc.com)
  • His research, funded by the National Institutes of Health, uses AAV to insert a corrective human gene for beta-glucuronidase into newborn MPS VII mice. (myvmc.com)
Substrate2
  • Using analysis of labeled β-glucuronidase peptides after hydrolysis of a substrate that enters a very stable intermediate stage, researchers have determined that Glu540 is the nucleophilic residue. (wikipedia.org)
  • Lysosomal storage diseases are generally classified by the accumulated substrate and include the sphingolipidoses, oligosaccharidoses, mucolipidoses, mucopolysaccharidoses (MPSs), lipoprotein storage disorders, lysosomal transport defects, neuronal ceroid lipofuscinoses and others. (medscape.com)
Deficient2
  • Beta-glucuronidase-deficient mucopolysaccharidosis in the dog. (pawprintgenetics.com)
  • Hyaluronidase, deficient in mucopolysaccharidosis IX, was encapsulated in NPs synthesized using 50:50, 60:40, or 75:25 lactide:glycolide copolymers. (ibecbarcelona.eu)
Mice3
  • Using this strategy, we injected beta-glucuronidase-secreting fibroblasts enclosed in alginate microcapsules into mutant MPS VII mice. (mcmaster.ca)
  • However, implanted mutant MPS VII mice developed antibodies against the murine beta-glucuronidase, demonstrating a potential obstacle in patients with a null mutation who react against the replaced enzyme as a foreign antigen. (mcmaster.ca)
  • Similarly, treated heterozygous mice maintained elevated levels of beta-glucuronidase and did not develop antibodies. (mcmaster.ca)
Newborn1
  • This child's course and data from published reports indicate that mucopolysaccharidosis VII, unlike the other known mucopolysaccharidoses, is clinically recognisable in the newborn period and is most likely to be associated with moderate mental deficiency which does not progress over time. (bmj.com)
Canine1
  • Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells. (pawprintgenetics.com)
Disease2
  • More recently, the concept of lysosomal storage disease has been expanded to include deficiencies or defects in proteins necessary for the normal post-translational modification of lysosomal enzymes (which themselves are often glycoproteins), activator proteins, or proteins important for proper intracellular trafficking between the lysosome and other intracellular compartments. (medscape.com)
  • Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases (such as Krabbe disease), including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses as well as peroxisome disorders such as X-linked adrenoleukodystrophy. (medscape.com)
Enzymes3
  • β-Glucuronidases are members of the glycosidase family of enzymes that catalyze breakdown of complex carbohydrates. (wikipedia.org)
  • Elevated secondary lysosomal enzymes beta-hexosaminidase and alpha-galactosidase were also reduced. (mcmaster.ca)
  • Lysosomal storage disorders are caused by a deficiency or absence of required enzymes. (conduent.com)
Mechanisms1
  • Hamano K, Hayashi M, Shioda K, Fukatsu R, Mizutani S. Mechanisms of neurodegeneration in mucopolysaccharidoses II and IIIB: analysis of human brain tissue. (medscape.com)
Human3
  • Human β-glucuronidase is located in the lysosome. (wikipedia.org)
  • Human β-glucuronidase is synthesized as an 80 kDa monomer (653 amino acids) before proteolysis removes 18 amino acids from the C-terminal end to form a 78 kDa monomer. (wikipedia.org)
  • Human β-glucuronidase is homologous to the Escherichia coli enzyme β-galactosidase. (wikipedia.org)
Activity4
  • Through comparison to the structural data of the homologous enzyme xylanase, it has been suggested that Tyr504 of β-glucuronidase might stabilize the leaving nucleophile (Glu540) or modulate its activity. (wikipedia.org)
  • More recently researchers have discovered a feline family that exhibits deficiencies in β-glucuronidase activity. (wikipedia.org)
  • After 24 hr, beta-glucuronidase activity was detected in the plasma, reaching 66% of physiological levels by 2 weeks postimplantation. (mcmaster.ca)
  • Significant beta-glucuronidase activity was detected in liver and spleen for the duration of the 8-week experiment. (mcmaster.ca)
Patients2
Form1
  • In the gut, brush border β-glucuronidase converts conjugated bilirubin to the unconjugated form for reabsorption. (wikipedia.org)
Conditions1
  • Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases, including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses. (medscape.com)
Blood1
  • Pyruvate kinase deficiency is an inherited red blood cell enzyme disorder that causes chronic hemolysis. (conduent.com)
Lysosomal storage4
  • Another lysosomal storage disease often confused with the mucopolysaccharidoses is mucolipidosis. (nih.gov)
  • Here we tested the potential of a helper-dependent CAV-2 vector expressing beta-glucuronidase (HD-RIGIE) in a mouse model of mucopolysaccharidosis type VII (MPS VII), a lysosomal storage disease caused by deficiency in beta-glucuronidase activity. (cnrs.fr)
  • This enzyme deficiency is the cause of the lysosomal storage disease called Mucopolysaccharidosis Type VII . (en-academic.com)
  • More recently, the concept of lysosomal storage disease has been expanded to include deficiencies or defects in proteins necessary for the normal post-translational modification of lysosomal enzymes (which themselves are often glycoproteins), activator proteins, or proteins important for proper intracellular trafficking between the lysosome and other intracellular compartments. (medscape.com)
Enzyme11
  • This gene provides instructions for producing the beta-glucuronidase (β-glucuronidase) enzyme, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). (medlineplus.gov)
  • Human β-glucuronidase is homologous to the Escherichia coli enzyme β-galactosidase. (wikipedia.org)
  • Through comparison to the structural data of the homologous enzyme xylanase, it has been suggested that Tyr504 of β-glucuronidase might stabilize the leaving nucleophile (Glu540) or modulate its activity. (wikipedia.org)
  • A deficiency in this enzyme results in the build-up of non-hydrolyzed mucopolysaccharides in the patient. (wikipedia.org)
  • LeBowitz JH, Grubb JH, Maga JA, Schmiel DH, Vogler C, Sly WS , Glycosylation-independent targeting enhances enzyme delivery to lysosomes and decreases storage in mucopolysaccharidosis type VII mice. (coriell.org)
  • Deficiency of the enzyme beta-glucuronidase . (en-academic.com)
  • Classically, lysosomal storage diseases encompassed only enzyme deficiencies of the lysosomal hydrolases. (medscape.com)
  • Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), Pompe disease, and recently Batten disease (neuronal ceroid lipofuscinoses, CLN2). (medscape.com)
  • MPS VII is a lysosomal storage disorder caused by deficiency of the enzyme beta-glucuronidase, which causes an abnormal buildup of toxic materials in the body's cells. (medscape.com)
  • 1-O-Methyl -β- D- glucuronic acid, sodium salt is an inducer of β-glucuronidase, a glycosidase enzyme coded by the GUS gene. (goldbio.com)
  • β-glucuronidase also has an important role within human digestion because this enzyme is capable of deconjugating toxins within the body and releasing them back freely into the bloodstream. (goldbio.com)
Syndrome5
  • Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. (medlineplus.gov)
  • MEPSEVII is a recombinant human lysosomal beta glucuronidase indicated in pediatric and adult patients for the treatment of Mucopolysaccharidosis VII (MPS VII, Sly syndrome). (nih.gov)
  • MEPSEVII is indicated in pediatric and adult patients for the treatment of Mucopolysaccharidosis VII (MPS VII, Sly syndrome). (nih.gov)
  • The US Food and Drug Administration (FDA) has approved vestronidase alfa-vjbk ( Mepsevii , Ultragenyx Pharmaceutical) to treat children and adults with the rare genetic condition mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome. (medscape.com)
  • However, β-glucuronidase, at certain levels, is necessary, and deficiencies can result in mucopolysaccharidosis type VII or Sly syndrome in newborns. (goldbio.com)
GUSB1
  • Mutations in the GUSB gene reduce or completely eliminate the function of β-glucuronidase. (medlineplus.gov)
Disease2
  • We used reverse-transcription-PCR-SSCP and direct sequencing to screen for mutations in the human beta-glucuronidase cDNA of 17 MPS VII patients with severe presentation of the disease. (nih.gov)
  • Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases (such as Krabbe disease), including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses as well as peroxisome disorders such as X-linked adrenoleukodystrophy. (medscape.com)
Called lysosomal storage1
Glycosidase3
  • β-Glucuronidases are members of the glycosidase family of enzymes that catalyze breakdown of complex carbohydrates. (wikipedia.org)
  • Human β-glucuronidase is a type of glucuronidase (a member of glycosidase Family 2) that catalyzes hydrolysis of β-D-glucuronic acid residues from the non-reducing end of mucopolysaccharides (also referred to as glycosaminoglycans) such as heparan sulfate. (wikipedia.org)
  • Though the particular type of nucleophilic substitution employed by β-glucuronidase is unclear, evidence for the mechanisms of their homologues in the glycosidase family suggests that these reactions are qualitatively SN2 reactions. (wikipedia.org)
Hurler2
  • Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. (nih.gov)
  • Mucopolisacaridosis que se caracteriza por la presencia de cantidades excesivas de dermatán y heparán sulfatos en la orina y por poseer caracteristicas semejantes al Hurler. (bvsalud.org)
Mutations1
  • Mutations resulting in an unstable mRNA were detected in genomic DNA with direct sequencing of the PCR-amplified beta-glucuronidase exons. (nih.gov)
Accumulation2
  • The shortage (deficiency) of β-glucuronidase leads to the accumulation of GAGs within cells, specifically inside the lysosomes . (medlineplus.gov)
  • Hydrocephalus, an excessive accumulation of cerebrospinal fluid in the brain that can cause increased pressure inside the head, is common in some of the mucopolysaccharidoses. (nih.gov)
Disorder1
  • People with a mucopolysaccharidosis disorder either do not produce enough of one of the 11 enzymes required to break down these sugar chains into proteins and simpler molecules or they produce enzymes that do not work properly. (nih.gov)
Metabolic1
  • Mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes the body needs to break down molecules called glycosaminoglycans. (nih.gov)
Abnormalities1
  • Individuals with mucolipidosis may share some of the clinical features associated with the mucopolysaccharidoses (certain facial features, bony structure abnormalities, and damage to the brain). (nih.gov)
Types2
Term1
  • After intracranial administration of HD-RIGIE, we show long-term expression of beta-glucuronidase that led to correction of neuropathology around the injection site and in distal areas. (cnrs.fr)
Present1
  • β-Glucuronidase is also present in breast milk, which contributes to neonatal jaundice. (wikipedia.org)