Disease on EC 3.5.1.52 - peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase
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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.
Carcinoma
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.
Carcinoma, Hepatocellular
Biosynthesis, surface expression and function of the fibronectin receptor after rat liver cell transformation to tumorigenicity.
Carcinoma, Hepatocellular
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.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
A conserved role for AMP-activated protein kinase in NGLY1 deficiency.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital disorder of deglycosylation associated with N-glycanse 1 deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
JF1/B6F1 Ngly1-/- mouse as an isogenic animal model of NGLY1 deficiency.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Liver involvement in NGLY1 congenital disorder of deglycosylation.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
N-glycanase NGLY1 regulates mitochondrial homeostasis and inflammation through NRF1.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
NGLY1 deficiency-A rare congenital disorder of deglycosylation.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
NGLY1 deficiency: Novel variants and literature review.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Tissue-specific regulation of BMP signaling by Drosophila N-glycanase 1.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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.
Genetic Diseases, Inborn
Endo-?-N-acetylglucosaminidase forms N-GlcNAc protein aggregates during ER-associated degradation in Ngly1-defective cells.
Genetic Diseases, Inborn
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.
Genetic Diseases, Inborn
Mutations in NGLY1 gene linked with new genetic disorder: parents' reports of children's symptoms help facilitate the discovery.
Genetic Diseases, Inborn
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.
Genetic Diseases, Inborn
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.
Glioma
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.
Herpes Zoster
Structure of the O-linked carbohydrate chains of porcine zona pellucida glycoproteins.
Hyperkinesis
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.
Infections
Modifications in the binding domain of avian retrovirus envelope protein to redirect the host range of retroviral vectors.
Infections
Overexpression of a functional NMDA receptor subunit (NMDAR1) in baculovirus-infected Trichoplusia ni insect cells.
Infections
Porcine arterivirus infection of alveolar macrophages is mediated by sialic acid on the virus.
Infections
Role of N-linked glycans on bunyamwera virus glycoproteins in intracellular trafficking, protein folding, and virus infectivity.
Influenza, Human
Characterization of Site-Specific glycosylation in Influenza A Virus Hemagglutinin produced by Spodoptera frugiperda insect cell line.
Influenza, Human
Identification of single amino acid substitutions (SAAS) in neuraminidase from influenza a virus (H1N1) via mass spectrometry analysis coupled with de novo peptide sequencing.
Influenza, Human
Spontaneous Glycan Reattachment Following N-Glycanase Treatment of Influenza and HIV Vaccine Antigens.
Influenza, Human
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.
Intellectual Disability
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.
Intellectual Disability
Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.
Intellectual Disability
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.
Liver Diseases
N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity.
Liver Diseases
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.
Lysosomal Storage Diseases
Congenital disorder of deglycosylation associated with N-glycanse 1 deficiency
Lysosomal Storage Diseases
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.
Melanoma
Glycosylation characteristics of pigmentation-associated antigen (GP75): an intracellular glycoprotein of human melanocytes and malignant melanomas.
Melanoma
N-glycosylation enhances presentation of a MHC class I-restricted epitope from tyrosinase.
Melanoma
Stress and interferon signalling-mediated apoptosis contributes to pleiotropic anticancer responses induced by targeting NGLY1.
Microcephaly
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
Movement Disorders
Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems.
Movement Disorders
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.
Movement Disorders
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.
Neoplasms
Evidence for sulfate modification of H-2Dd on N-linked carbohydrate(s): possible involvement in Ly-49A interaction.
Neoplasms
Increased CMP-NeuAc:Gal beta 1,4GlcNAc-R alpha 2,6 sialyltransferase activity in human colorectal cancer tissues.
Neoplasms
Inhibition of NGLY1 Inactivates the Transcription Factor Nrf1 and Potentiates Proteasome Inhibitor Cytotoxicity.
Neoplasms
Interplay between post-translational cyclooxygenase-2 modifications and the metabolic and proteomic profile in a colorectal cancer cohort.
Neoplasms
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.
Neoplasms
Simultaneous expression of keratan sulphate epitope (a sulphated poly-N-acetyllactosamine) and blood group ABH antigens in papillary carcinomas of the human thyroid gland.
Neoplasms
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.
Ovarian Neoplasms
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.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase 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.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
Correction to: Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
Defects in the Neuroendocrine Axis Contribute to Global Development Delay in a Drosophila Model of NGLY1 Deficiency.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
Drug screens of NGLY1 deficiency in worm and fly models reveal catecholamine, NRF2 and anti-inflammatory-pathway activation as potential clinical approaches.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
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.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
High-throughput protein modification quantitation analysis using intact protein MRM and its application on hENGase inhibitor screening.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
JF1/B6F1 Ngly1-/- mouse as an isogenic animal model of NGLY1 deficiency.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
Loss of N-Glycanase 1 Alters Transcriptional and Translational Regulation in K562 Cell Lines.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
Loss of peptide:N-glycanase causes proteasome dysfunction mediated by a sugar-recognizing ubiquitin ligase.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
Mitochondrial function requires NGLY1.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
New perspectives on the mutated NGLY1 enigma.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
NGLY1 deficiency-A rare congenital disorder of deglycosylation.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
NGLY1 deficiency: Novel variants and literature review.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
Regulation of BMP4/Dpp retrotranslocation and signaling by deglycosylation.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
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.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
Structured reviews for data and knowledge-driven research.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
Tracing the NGLY1 footprints: Insights from Drosophila.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.
peptide-n4-(n-acetyl-beta-glucosaminyl)asparagine amidase deficiency
[Novel deglycosylation-independent roles for peptide N-glycanase].
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.
Seizures
Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems.
Seizures
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.
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.
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