Disease on EC 3.1.4.45 - N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
Please use the Disease Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
Alzheimer Disease
PLA2G4A/cPLA2-mediated lysosomal membrane damage leads to inhibition of autophagy and neurodegeneration after brain trauma.
Brain Injuries, Traumatic
PLA2G4A/cPLA2-mediated lysosomal membrane damage leads to inhibition of autophagy and neurodegeneration after brain trauma.
Carcinoma, Hepatocellular
Elevated carbohydrate phosphotransferase activity in human hepatoma and phosphorylation of cathepsin D.
Carcinoma, Hepatocellular
[Carbohydrate phosphotransferase in human hepatoma and phosphorylation of cathepsin D]
Genetic Diseases, Inborn
Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB.
Hydrocephalus
Mouse model of Sanfilippo syndrome type B: relation of phenotypic features to background strain.
Infections
Vitamin D3 activates the autolysosomal degradation function against Helicobacter pylori through the PDIA3 receptor in gastric epithelial cells.
Lysosomal Storage Diseases
Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations.
Lysosomal Storage Diseases
Deleting the mouse Hsd17b1 gene results in a hypomorphic Naglu allele and a phenotype mimicking a lysosomal storage disease.
Lysosomal Storage Diseases
Generation of two induced pluripotent stem cells lines from a Mucopolysaccharydosis IIIB (MPSIIIB) patient.
Mucolipidoses
Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.
Mucopolysaccharidoses
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.
Mucopolysaccharidoses
A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB.
Mucopolysaccharidoses
A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis.
Mucopolysaccharidoses
A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells.
Mucopolysaccharidoses
An exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs.
Mucopolysaccharidoses
An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene.
Mucopolysaccharidoses
BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different patterns of cellular uptake into critical cell types of Sanfilippo syndrome B disease pathogenesis.
Mucopolysaccharidoses
Cell-Mediated Immunity to NAGLU Transgene Following Intracerebral Gene Therapy in Children With Mucopolysaccharidosis Type IIIB Syndrome.
Mucopolysaccharidoses
Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations.
Mucopolysaccharidoses
Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family.
Mucopolysaccharidoses
Disease modeling for Mucopolysaccharidosis type IIIB using patient derived induced pluripotent stem cells.
Mucopolysaccharidoses
Generation of two induced pluripotent stem cells lines from a Mucopolysaccharydosis IIIB (MPSIIIB) patient.
Mucopolysaccharidoses
Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB.
Mucopolysaccharidoses
Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy.
Mucopolysaccharidoses
Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): an avian model of Sanfilippo syndrome type B.
Mucopolysaccharidoses
Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB.
Mucopolysaccharidoses
Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.
Mucopolysaccharidoses
Mucopolysaccharidosis type IIIB mutations in Chinese patients: Identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis.
Mucopolysaccharidoses
Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB.
Mucopolysaccharidoses
Significant neuropsychiatric symptoms: three mucopolysaccharidosis type IIIB cases, two of whom were siblings with a novel NAGLU gene mutation.
Mucopolysaccharidoses
Trehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal hydrolase deficiency.
Mucopolysaccharidoses
Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene.
Mucopolysaccharidosis III
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.
Mucopolysaccharidosis III
A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B).
Mucopolysaccharidosis III
A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.
Mucopolysaccharidosis III
A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells.
Mucopolysaccharidosis III
Accelerated clinical disease and pathology in mucopolysaccharidosis type IIIB and GalNAc transferase double knockout mice.
Mucopolysaccharidosis III
An exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs.
Mucopolysaccharidosis III
An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene.
Mucopolysaccharidosis III
Assessment of predicted enzymatic activity of ?-N-acetylglucosaminidase variants of unknown significance for CAGI 2016.
Mucopolysaccharidosis III
BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different patterns of cellular uptake into critical cell types of Sanfilippo syndrome B disease pathogenesis.
Mucopolysaccharidosis III
Cell-Mediated Immunity to NAGLU Transgene Following Intracerebral Gene Therapy in Children With Mucopolysaccharidosis Type IIIB Syndrome.
Mucopolysaccharidosis III
Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations.
Mucopolysaccharidosis III
Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family.
Mucopolysaccharidosis III
Competitive binding of extracellular accumulated heparan sulfate reduces lysosomal storage defects and triggers neuronal differentiation in a model of Mucopolysaccharidosis IIIB.
Mucopolysaccharidosis III
Correction of mucopolysaccharidosis type IIIb fibroblasts by lentiviral vector-mediated gene transfer.
Mucopolysaccharidosis III
Correction of Neurological Disease of Mucopolysaccharidosis IIIB in Adult Mice by rAAV9 Trans-Blood-Brain Barrier Gene Delivery.
Mucopolysaccharidosis III
Differential Uptake of NAGLU-IGF2 and Unmodified NAGLU in Cellular Models of Sanfilippo Syndrome Type B.
Mucopolysaccharidosis III
Disease modeling for Mucopolysaccharidosis type IIIB using patient derived induced pluripotent stem cells.
Mucopolysaccharidosis III
EGFR activation triggers cellular hypertrophy and lysosomal disease in NAGLU-depleted cardiomyoblasts, mimicking the hallmarks of mucopolysaccharidosis IIIB.
Mucopolysaccharidosis III
Generation of two induced pluripotent stem cells lines from a Mucopolysaccharydosis IIIB (MPSIIIB) patient.
Mucopolysaccharidosis III
Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).
Mucopolysaccharidosis III
Iminosugar C-Glycosides Work as Pharmacological Chaperones of NAGLU, a Glycosidase Involved in MPS IIIB Rare Disease*.
Mucopolysaccharidosis III
Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB.
Mucopolysaccharidosis III
Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB.
Mucopolysaccharidosis III
Intravenous administration of human umbilical cord blood cells in an animal model of MPS III B.
Mucopolysaccharidosis III
Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula.
Mucopolysaccharidosis III
Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): an avian model of Sanfilippo syndrome type B.
Mucopolysaccharidosis III
Mouse model of Sanfilippo syndrome type B: relation of phenotypic features to background strain.
Mucopolysaccharidosis III
Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.
Mucopolysaccharidosis III
Mucopolysaccharidosis type IIIB mutations in Chinese patients: Identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis.
Mucopolysaccharidosis III
Near-Complete Correction of Profound Metabolomic Impairments Corresponding to Functional Benefit in MPS IIIB Mice after IV rAAV9-hNAGLU Gene Delivery.
Mucopolysaccharidosis III
Neurological correction of lysosomal storage in a mucopolysaccharidosis IIIB mouse model by adeno-associated virus-mediated gene delivery.
Mucopolysaccharidosis III
Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?
Mucopolysaccharidosis III
Residual N-acetyl-?-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.
Mucopolysaccharidosis III
Restoration of central nervous system alpha-N-acetylglucosaminidase activity and therapeutic benefits in mucopolysaccharidosis IIIB mice by a single intracisternal recombinant adeno-associated viral type 2 vector delivery.
Mucopolysaccharidosis III
Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB.
Mucopolysaccharidosis III
Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
Mucopolysaccharidosis III
Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.
Mucopolysaccharidosis III
Significant neuropsychiatric symptoms: three mucopolysaccharidosis type IIIB cases, two of whom were siblings with a novel NAGLU gene mutation.
Mucopolysaccharidosis III
Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice.
Mucopolysaccharidosis III
Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB.
Mucopolysaccharidosis III
The alpha-N-acetyl-glucosaminidase gene is transcriptionally activated in male and female gametes prior to fertilization and is essential for seed development in Arabidopsis.
Mucopolysaccharidosis III
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector.
Mucopolysaccharidosis III
Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene.
Muscle Hypotonia
A novel frameshift deletion in NAGLU causing sanfilipo type III-B in an Indian family.
Muscle Spasticity
Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family.
n-acetylglucosamine-1-phosphodiester alpha-n-acetylglucosaminidase deficiency
Disease modeling for Mucopolysaccharidosis type IIIB using patient derived induced pluripotent stem cells.
n-acetylglucosamine-1-phosphodiester alpha-n-acetylglucosaminidase deficiency
Heterozygosity for phosphodiester glycosidase deficiency: a novel human mutation of lysosomal enzyme processing.
n-acetylglucosamine-1-phosphodiester alpha-n-acetylglucosaminidase deficiency
Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): an avian model of Sanfilippo syndrome type B.
Neoplasms
Elevated carbohydrate phosphotransferase activity in human hepatoma and phosphorylation of cathepsin D.
Neoplasms
Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial.
Neoplasms
Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB.
Neuroblastoma
Competitive binding of extracellular accumulated heparan sulfate reduces lysosomal storage defects and triggers neuronal differentiation in a model of Mucopolysaccharidosis IIIB.
Neurodegenerative Diseases
BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different patterns of cellular uptake into critical cell types of Sanfilippo syndrome B disease pathogenesis.
Neurodegenerative Diseases
Generation of two induced pluripotent stem cells lines from a Mucopolysaccharydosis IIIB (MPSIIIB) patient.
Neurologic Manifestations
Restoration of central nervous system alpha-N-acetylglucosaminidase activity and therapeutic benefits in mucopolysaccharidosis IIIB mice by a single intracisternal recombinant adeno-associated viral type 2 vector delivery.
Polyneuropathies
Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.
Stuttering
Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering.
Virus Diseases
Correction of mucopolysaccharidosis type IIIb fibroblasts by lentiviral vector-mediated gene transfer.
html completed