Disease on EC 3.5.1.26 - N4-(beta-N-acetylglucosaminyl)-L-asparaginase
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amidase deficiency
Dissection of the molecular pathology of aspartylglucosaminuria provides the basis for DNA diagnostics and future therapeutic interventions.
Aspartylglucosaminuria
A fluorometric assay for glycosylasparaginase activity and detection of aspartylglycosaminuria.
Aspartylglucosaminuria
A mouse model for the human lysosomal disease aspartylglycosaminuria.
Aspartylglucosaminuria
A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase.
Aspartylglucosaminuria
Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse.
Aspartylglucosaminuria
Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria.
Aspartylglucosaminuria
Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuria.
Aspartylglucosaminuria
Aspartylglucosaminidase (AGA) is efficiently produced and endocytosed by glial cells: implication for the therapy of a lysosomal storage disorder.
Aspartylglucosaminuria
Aspartylglucosaminuria (AGU): protein and gene structure of normal and mutated aspartylglucosaminidase.
Aspartylglucosaminuria
Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan.
Aspartylglucosaminuria
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.
Aspartylglucosaminuria
Aspartylglucosaminuria: deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents.
Aspartylglucosaminuria
Aspartylglucosaminuria: Unusual Neonatal Presentation in Qatari Twins With a Novel Aspartylglucosaminidase Gene Mutation and 3 New Cases in a Turkish Family.
Aspartylglucosaminuria
Aspartylglycosaminuria in a non-Finnish patient caused by a donor splice mutation in the glycoasparaginase gene.
Aspartylglucosaminuria
Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase.
Aspartylglucosaminuria
Assignment of the aspartylglucosaminidase gene (AGA) to 4q33----q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype.
Aspartylglucosaminuria
Bilateral pulvinar signal intensity decrease on T2-weighted images in patients with aspartylglucosaminuria.
Aspartylglucosaminuria
Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder - aspartylglucosaminuria.
Aspartylglucosaminuria
Biochemical characterization and comparison of aspartylglucosaminidases secreted in venom of the parasitoid wasps Asobara tabida and Leptopilina heterotoma.
Aspartylglucosaminuria
Brain MRI findings in two Turkish pediatric patients with aspartylglucosaminuria.
Aspartylglucosaminuria
Characterization of a point mutation in aspartylglucosaminidase gene: evidence for a readthrough of a translational stop codon.
Aspartylglucosaminuria
Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits.
Aspartylglucosaminuria
Characterization of the storage material of peripheral lymphocytes in aspartylglycosaminuria.
Aspartylglucosaminuria
Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient.
Aspartylglucosaminuria
Chromosomal localization of the human glycoasparaginase gene to 4q32-q33.
Aspartylglucosaminuria
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.
Aspartylglucosaminuria
Correction of deficient enzyme activity in a lysosomal storage disease, aspartylglucosaminuria, by enzyme replacement and retroviral gene transfer.
Aspartylglucosaminuria
Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient.
Aspartylglucosaminuria
Deletion of the 3'-untranslated region of aspartylglucosaminidase mRNA results in a lysosomal accumulation disease.
Aspartylglucosaminuria
Deletion of the C-terminal end of aspartylglucosaminidase resulting in a lysosomal accumulation disease: evidence for a unique genomic rearrangement.
Aspartylglucosaminuria
Dissection of the molecular consequences of a double mutation causing a human lysosomal disease.
Aspartylglucosaminuria
Dissection of the molecular pathology of aspartylglucosaminuria provides the basis for DNA diagnostics and future therapeutic interventions.
Aspartylglucosaminuria
Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice.
Aspartylglucosaminuria
Enzymatic diagnosis of aspartylglycosaminuria by fluorometric assay of glycosylasparaginase in serum, plasma, or lymphocytes.
Aspartylglucosaminuria
Enzyme replacement therapy in a mouse model of aspartylglycosaminuria.
Aspartylglucosaminuria
Expression and endocytosis of lysosomal aspartylglucosaminidase in mouse primary neurons.
Aspartylglucosaminuria
Expression of aspartylglucosaminidase in human tissues from normal individuals and aspartylglucosaminuria patients.
Aspartylglucosaminuria
Fibroblast expression of collagens and proteoglycans is altered in aspartylglucosaminuria, a lysosomal storage disease.
Aspartylglucosaminuria
Human aspartylglucosaminidase. A biochemical and immunocytochemical characterization of the enzyme in normal and aspartylglucosaminuria fibroblasts.
Aspartylglucosaminuria
Human leukocyte glycosylasparaginase: cell-to-cell transfer and properties in correction of aspartylglycosaminuria.
Aspartylglucosaminuria
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.
Aspartylglucosaminuria
Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria.
Aspartylglucosaminuria
Isolation of a human hepatic 60 kDa aspartylglucosaminidase consisting of three non-identical polypeptides.
Aspartylglucosaminuria
Isolation of the liver N-aspartyl-beta-glucosaminidase in aspartylglucosaminuria.
Aspartylglucosaminuria
Large-scale purification and preliminary x-ray diffraction studies of human aspartylglucosaminidase.
Aspartylglucosaminuria
Large-scale purification of human aspartylglucosaminidase: utilization of exceptional sodium dodecyl sulfate resistance.
Aspartylglucosaminuria
Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4.
Aspartylglucosaminuria
Localization of the disulfide bond involved in post-translational processing of glycosylasparaginase and disrupted by a mutation in the Finnish-type aspartylglycosaminuria.
Aspartylglucosaminuria
Lysosomal aspartylglucosaminidase is processed to the active subunit complex in the endoplasmic reticulum.
Aspartylglucosaminuria
Massive accumulation of Man2GlcNAc2-Asn in nonneuronal tissues of glycosylasparaginase-deficient mice and its removal by enzyme replacement therapy.
Aspartylglucosaminuria
Molecular cloning, chromosomal assignment, and expression of the mouse aspartylglucosaminidase gene.
Aspartylglucosaminuria
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.
Aspartylglucosaminuria
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria.
Aspartylglucosaminuria
Phenotypic characterization of mice with targeted disruption of glycosylasparaginase gene: a mouse model for aspartylglycosaminuria.
Aspartylglucosaminuria
Pre-clinical Gene Therapy with AAV9/AGA in Aspartylglucosaminuria Mice Provides Evidence for Clinical Translation.
Aspartylglucosaminuria
Recombinant glycosylasparaginase and in vitro correction of aspartylglycosaminuria.
Aspartylglucosaminuria
Ser72Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation.
Aspartylglucosaminuria
Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin.
Aspartylglucosaminuria
Splicing defect of the glycoasparaginase gene in two Japanese siblings with apartylglucosaminuria.
Aspartylglucosaminuria
Studies on N-aspartyl-beta-glucosaminidase in aspartylglycosaminuria.
Aspartylglucosaminuria
The T99K variant of glycosylasparaginase shows a new structural mechanism of the genetic disease aspartylglucosaminuria.
Aspartylglucosaminuria
Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development.
Aspartylglucosaminuria
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.
Aspartylglucosaminuria
Use of nonviral promoters in adenovirus-mediated gene therapy: reduction of lysosomal storage in the aspartylglucosaminuria mouse.
Aspartylglucosaminuria
[Molecular analysis of the aspartylglucosaminidase gene in Japanese patients with aspartylglucosaminuria]
Congenital Disorders of Glycosylation
Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I).
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I).
Genetic Diseases, Inborn
The T99K variant of glycosylasparaginase shows a new structural mechanism of the genetic disease aspartylglucosaminuria.
Herpes Simplex
Schizophrenia Susceptibility Genes Directly Implicated in the Life Cycles of Pathogens: Cytomegalovirus, Influenza, Herpes simplex, Rubella, and Toxoplasma gondii.
Influenza, Human
Schizophrenia Susceptibility Genes Directly Implicated in the Life Cycles of Pathogens: Cytomegalovirus, Influenza, Herpes simplex, Rubella, and Toxoplasma gondii.
Intellectual Disability
Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse.
Intellectual Disability
Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice.
Intellectual Disability
Fibroblast expression of collagens and proteoglycans is altered in aspartylglucosaminuria, a lysosomal storage disease.
Intellectual Disability
Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development.
Leukemia
Depletion of L-asparagine supply and apoptosis of leukemia cells induced by human glycosylasparaginase.
Lysosomal Storage Diseases
Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse.
Lysosomal Storage Diseases
Aspartylglycosaminuria in a non-Finnish patient caused by a donor splice mutation in the glycoasparaginase gene.
Lysosomal Storage Diseases
Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase.
Lysosomal Storage Diseases
Biochemical characterization and comparison of aspartylglucosaminidases secreted in venom of the parasitoid wasps Asobara tabida and Leptopilina heterotoma.
Lysosomal Storage Diseases
Characterization of a point mutation in aspartylglucosaminidase gene: evidence for a readthrough of a translational stop codon.
Lysosomal Storage Diseases
Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient.
Lysosomal Storage Diseases
Chromosomal localization of the human glycoasparaginase gene to 4q32-q33.
Lysosomal Storage Diseases
Deletion of the 3'-untranslated region of aspartylglucosaminidase mRNA results in a lysosomal accumulation disease.
Lysosomal Storage Diseases
Dissection of the molecular pathology of aspartylglucosaminuria provides the basis for DNA diagnostics and future therapeutic interventions.
Lysosomal Storage Diseases
Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice.
Lysosomal Storage Diseases
Expression and endocytosis of lysosomal aspartylglucosaminidase in mouse primary neurons.
Lysosomal Storage Diseases
Fibroblast expression of collagens and proteoglycans is altered in aspartylglucosaminuria, a lysosomal storage disease.
Lysosomal Storage Diseases
Human leukocyte glycosylasparaginase: cell-to-cell transfer and properties in correction of aspartylglycosaminuria.
Lysosomal Storage Diseases
Large-scale purification of human aspartylglucosaminidase: utilization of exceptional sodium dodecyl sulfate resistance.
Lysosomal Storage Diseases
Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients.
Lysosomal Storage Diseases
Molecular cloning, chromosomal assignment, and expression of the mouse aspartylglucosaminidase gene.
Lysosomal Storage Diseases
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.
Lysosomal Storage Diseases
Pre-clinical Gene Therapy with AAV9/AGA in Aspartylglucosaminuria Mice Provides Evidence for Clinical Translation.
Lysosomal Storage Diseases
Ser72Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation.
Lysosomal Storage Diseases
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.
Lysosomal Storage Diseases
Use of nonviral promoters in adenovirus-mediated gene therapy: reduction of lysosomal storage in the aspartylglucosaminuria mouse.
Mucolipidoses
Catabolism of N-glycosylprotein glycans: evidence for a degradation pathway of sialylglyco-asparagines resulting from the combined action of the lysosomal aspartylglucosaminidase and endo-N-acetyl-beta-D-glucosaminidase. A 400-MHz 1H-NMR study.
n4-(beta-n-acetylglucosaminyl)-l-asparaginase deficiency
Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient.
n4-(beta-n-acetylglucosaminyl)-l-asparaginase deficiency
Homozygous NADH-methemoglobin reductase and aspartylglucosaminidase deficiencies in a moderately retarded Sicilian child.
n4-(beta-n-acetylglucosaminyl)-l-asparaginase deficiency
Splicing defect of the glycoasparaginase gene in two Japanese siblings with apartylglucosaminuria.
Rubella
Schizophrenia Susceptibility Genes Directly Implicated in the Life Cycles of Pathogens: Cytomegalovirus, Influenza, Herpes simplex, Rubella, and Toxoplasma gondii.
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