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Disease on EC 3.5.1.52 - peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adrenal Insufficiency
Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency.
Alzheimer Disease
CSF N-Glycoproteomics Using MALDI MS Techniques in Neurodegenerative Diseases.
Anemia, Hemolytic
Analysis of erythrocyte membrane proteins in patients with hereditary spherocytosis and other types of haemolytic anaemia.
Breast Neoplasms
The breast tumor-associated epitope defined by monoclonal antibody 3E1.2 is an O-linked mucin carbohydrate containing N-glycolylneuraminic acid.
Carcinoma
Characterization of the oligosaccharide component of alpha3beta1 integrin from human bladder carcinoma cell line T24 and its role in adhesion and migration.
Elevations in cathepsin B protein content and enzyme activity occur independently of glycosylation during colorectal tumor progression.
Carcinoma, Hepatocellular
Biochemical characterization of alpha-fetoprotein and other serum proteins produced by a uterine endometrial adenocarcinoma.
Biosynthesis, surface expression and function of the fibronectin receptor after rat liver cell transformation to tumorigenicity.
MALDI imaging mass spectrometry profiling of N-glycans in formalin-fixed paraffin embedded clinical tissue blocks and tissue microarrays.
Carcinoma, Papillary
Simultaneous expression of keratan sulphate epitope (a sulphated poly-N-acetyllactosamine) and blood group ABH antigens in papillary carcinomas of the human thyroid gland.
Choriocarcinoma
The carbohydrate chains of the beta subunit of human chorionic gonadotropin produced by the choriocarcinoma cell line BeWo. Novel O-linked and novel bisecting-GlcNAc-containing N-linked carbohydrates.
Colitis
Different tissue distribution properties for glycosylation variants of fusion proteins containing the p40 subunit of murine interleukin-12.
Colonic Neoplasms
N-glycosylation status of beta-haptoglobin in sera of patients with colon cancer, chronic inflammatory diseases and normal subjects.
Confusion
Chemical deamidation: a common pitfall in large-scale N-linked glycoproteomic mass spectrometry-based analyses.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.
A conserved role for AMP-activated protein kinase in NGLY1 deficiency.
Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Congenital disorder of deglycosylation associated with N-glycanse 1 deficiency
Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.
JF1/B6F1 Ngly1-/- mouse as an isogenic animal model of NGLY1 deficiency.
Liver involvement in NGLY1 congenital disorder of deglycosylation.
N-glycanase NGLY1 regulates mitochondrial homeostasis and inflammation through NRF1.
NGLY1 deficiency-A rare congenital disorder of deglycosylation.
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
NGLY1 deficiency: Novel variants and literature review.
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
Tissue-specific regulation of BMP signaling by Drosophila N-glycanase 1.
Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation.
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.
Corneal Opacity
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.
Cysts
The consensus Nglyco -X-S/T motif and a previously unknown Nglyco -N-linked glycosylation are necessary for growth and pathogenicity of Phytophthora.
Epilepsies, Myoclonic
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Epilepsy
Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation.
Galactosemias
Differential glycomics of epithelial membrane glycoproteins from urinary exovesicles reveals shifts toward complex-type N-glycosylation in classical galactosemia.
Gastritis, Atrophic
Identification of N- and O-linked glycans recognized by AAL in saliva of patients with atrophic gastritis and gastric cancer.
Genetic Diseases, Inborn
Cytosolic N-GlcNAc proteins are formed by the action of endo-?-N-acetylglucosaminidase.
Endo-?-N-acetylglucosaminidase forms N-GlcNAc protein aggregates during ER-associated degradation in Ngly1-defective cells.
Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene.
Mutations in NGLY1 gene linked with new genetic disorder: parents' reports of children's symptoms help facilitate the discovery.
Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-?-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease.
Structured reviews for data and knowledge-driven research.
The cytoplasmic peptide:N-glycanase (Ngly1)-basic science encounters a human genetic disorder.
Glioma
On-tissue spatially resolved glycoproteomics guided by N-glycan imaging reveal global dysregulation of canine glioma glycoproteomic landscape.
Study of O-glycan sialylation in C6 cultured glioma cells: evidence for post-translational regulation of a beta-galactoside alpha 2,3 sialyltransferase activity by N-glycosylation.
Herpes Zoster
Characterization of the acidic N-linked glycans of the zona pellucida of prepuberal pigs by a mass spectrometric approach.
Structure of the O-linked carbohydrate chains of porcine zona pellucida glycoproteins.
Hyperkinesis
NGLY1 deficiency-A rare congenital disorder of deglycosylation.
Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-?-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease.
Hypersensitivity
Drug screens of NGLY1 deficiency in worm and fly models reveal catecholamine, NRF2 and anti-inflammatory-pathway activation as potential clinical approaches.
Hypoglycemia
Isolation from adult human serum of four insulin-like growth factor (IGF) binding proteins and molecular cloning of one of them that is increased by IGF I administration and in extrapancreatic tumor hypoglycemia.
Infections
Blocking cellular N-glycosylation suppresses human cytomegalovirus entry in human fibroblasts.
Modifications in the binding domain of avian retrovirus envelope protein to redirect the host range of retroviral vectors.
Overexpression of a functional NMDA receptor subunit (NMDAR1) in baculovirus-infected Trichoplusia ni insect cells.
Porcine arterivirus infection of alveolar macrophages is mediated by sialic acid on the virus.
Role of N-linked glycans on bunyamwera virus glycoproteins in intracellular trafficking, protein folding, and virus infectivity.
Role of N-linked glycosylation of the 5-HT2A receptor in JC virus infection.
Influenza, Human
Characterization of Site-Specific glycosylation in Influenza A Virus Hemagglutinin produced by Spodoptera frugiperda insect cell line.
Identification of single amino acid substitutions (SAAS) in neuraminidase from influenza a virus (H1N1) via mass spectrometry analysis coupled with de novo peptide sequencing.
Spontaneous Glycan Reattachment Following N-Glycanase Treatment of Influenza and HIV Vaccine Antigens.
Surfactant protein A, but not surfactant protein D, is an opsonin for influenza A virus phagocytosis by rat alveolar macrophages.
Intellectual Disability
Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems.
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.
Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Joint Instability
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Learning Disabilities
Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.
Liver Diseases
Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.
N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity.
Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-?-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease.
Lyme Disease
Detection of glycoproteins in Borrelia burgdorferi.
Lysosomal Storage Diseases
Congenital disorder of deglycosylation associated with N-glycanse 1 deficiency
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
Mastocytoma
Identification of the biosynthetic leukotriene C4 export pump in murine mastocytoma cells as a homolog of the multidrug-resistance protein.
Melanoma
An antigenic peptide produced by reverse splicing and double asparagine deamidation.
Glycosylation characteristics of pigmentation-associated antigen (GP75): an intracellular glycoprotein of human melanocytes and malignant melanomas.
N-glycosylation enhances presentation of a MHC class I-restricted epitope from tyrosinase.
Stress and interferon signalling-mediated apoptosis contributes to pleiotropic anticancer responses induced by targeting NGLY1.
Microcephaly
New perspectives on the mutated NGLY1 enigma.
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
Movement Disorders
A conserved role for AMP-activated protein kinase in NGLY1 deficiency.
New perspectives on the mutated NGLY1 enigma.
Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems.
NGLY1 deficiency-A rare congenital disorder of deglycosylation.
Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-?-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease.
Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.
Mucolipidoses
Elimination of abnormal sialylglycoproteins in fibroblasts with sialidosis and galactosialidosis by normal gene transfer and enzyme replacement.
Muscle Hypotonia
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
Myxoma
SERP1, a serine proteinase inhibitor encoded by myxoma virus, is a secreted glycoprotein that interferes with inflammation.
Neoplasms
Differential susceptibility to N-glycanase at the individual glycosylation sites of mouse thyrotropin and free alpha-subunits.
Evidence for sulfate modification of H-2Dd on N-linked carbohydrate(s): possible involvement in Ly-49A interaction.
Human tumour cathepsin B. Comparison with normal liver cathepsin B.
Increased CMP-NeuAc:Gal beta 1,4GlcNAc-R alpha 2,6 sialyltransferase activity in human colorectal cancer tissues.
Inhibition of NGLY1 Inactivates the Transcription Factor Nrf1 and Potentiates Proteasome Inhibitor Cytotoxicity.
Integrated Transcriptomic and Glycomic Profiling of Glioma Stem Cell Xenografts.
Interplay between post-translational cyclooxygenase-2 modifications and the metabolic and proteomic profile in a colorectal cancer cohort.
Isolation from adult human serum of four insulin-like growth factor (IGF) binding proteins and molecular cloning of one of them that is increased by IGF I administration and in extrapancreatic tumor hypoglycemia.
Simultaneous expression of keratan sulphate epitope (a sulphated poly-N-acetyllactosamine) and blood group ABH antigens in papillary carcinomas of the human thyroid gland.
Stress and interferon signalling-mediated apoptosis contributes to pleiotropic anticancer responses induced by targeting NGLY1.
Neuromuscular Diseases
Loss of N-Glycanase 1 Alters Transcriptional and Translational Regulation in K562 Cell Lines.
Newcastle Disease
Structural studies of a novel type of pentaantennary large glycan unit in the fertilization-associated carbohydrate-rich glycopeptide isolated from the fertilized eggs of Oryzias latipes.
Optic Atrophy
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Ovarian Neoplasms
Investigation of ovarian cancer associated sialylation changes in N-linked glycopeptides by quantitative proteomics.
N-glycan MALDI Imaging Mass Spectrometry on Formalin-Fixed Paraffin-Embedded Tissue Enables the Delineation of Ovarian Cancer Tissues.
Pancreatic Neoplasms
Glycan structure of blood group-A antigen in hamster normal tissues and pancreatic cancers.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
A conserved role for AMP-activated protein kinase in NGLY1 deficiency.
A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency.
An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene.
An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene.
Correction to: Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.
Defects in the Neuroendocrine Axis Contribute to Global Development Delay in a Drosophila Model of NGLY1 Deficiency.
Drug screens of NGLY1 deficiency in worm and fly models reveal catecholamine, NRF2 and anti-inflammatory-pathway activation as potential clinical approaches.
Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene.
High-throughput protein modification quantitation analysis using intact protein MRM and its application on hENGase inhibitor screening.
JF1/B6F1 Ngly1-/- mouse as an isogenic animal model of NGLY1 deficiency.
Loss of N-Glycanase 1 Alters Transcriptional and Translational Regulation in K562 Cell Lines.
Loss of peptide:N-glycanase causes proteasome dysfunction mediated by a sugar-recognizing ubiquitin ligase.
Mitochondrial function requires NGLY1.
New perspectives on the mutated NGLY1 enigma.
Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems.
NGLY1 deficiency-A rare congenital disorder of deglycosylation.
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
NGLY1 deficiency: Novel variants and literature review.
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry.
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Regulation of BMP4/Dpp retrotranslocation and signaling by deglycosylation.
Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-?-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease.
Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.
Structured reviews for data and knowledge-driven research.
Tracing the NGLY1 footprints: Insights from Drosophila.
Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.
Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation.
Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency.
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.
[Novel deglycosylation-independent roles for peptide N-glycanase].
Peripheral Nervous System Diseases
New perspectives on the mutated NGLY1 enigma.
Polyneuropathies
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Prostatic Neoplasms
MALDI imaging mass spectrometry profiling of N-glycans in formalin-fixed paraffin embedded clinical tissue blocks and tissue microarrays.
Rabies
Localization of rabies virus glycoprotein into the endoplasmic reticulum produces immunoprotective antigen.
Scoliosis
Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.
Scrapie
Asparagine-linked glycosylation of the scrapie and cellular prion proteins.
Seizures
A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency.
New perspectives on the mutated NGLY1 enigma.
Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems.
Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-?-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease.
Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.
Shock, Septic
N-linked glycosylation is required for c1 inhibitor-mediated protection from endotoxin shock in mice.
Tay-Sachs Disease
CSF N-Glycoproteomics Using MALDI MS Techniques in Neurodegenerative Diseases.
Thyroiditis
Carbohydrate moieties in recombinant human thyroid peroxidase: role in recognition by antithyroid peroxidase antibodies in Hashimoto's thyroiditis.
Vaccinia
SERP1, a serine proteinase inhibitor encoded by myxoma virus, is a secreted glycoprotein that interferes with inflammation.
Xeroderma Pigmentosum
Structure of the mouse peptide N-glycanase-HR23 complex suggests co-evolution of the endoplasmic reticulum-associated degradation and DNA repair pathways.