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30 documents found
1: Title: Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.
Authors: Hall, Patricia L, et.al. .
Journal: Molecular genetics and metabolism (Mol Genet Metab), 2018 .
Snippet: N-glycanase deficiency (NGLY1 deficiency, NGLY1-CDDG), the first autosomal recessive congenital disorder of N-linked deglycosylation (CDDG), is caused by pathogenic variants in NGLY1.
Affiliation: EGL Genetic Diagnostics, LLC, Tucker, GA, USA. Electronic address: patriciahall@egl-eurofins.com. Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA; Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, Seattle, WA, USA. EGL Genetic Diagnostics, LLC, Tucker, GA, USA; Department of Human Genetics, Emory University, Atlanta, GA, USA. EGL Genetic Diagnostics, LLC, Tucker, GA, USA. The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA; Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC, USA. Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA. Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA; Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States. Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology Mayo Clinic College of Medicine, Rochester, MN, USA. Department of Genetics, University of Alabama Birmingham, Birmingham, AL, USA. NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States. .
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2: Title: NGLY1-Related Congenital Disorder of Deglycosylation
Authors: Lam, Christina, et.al. .
Publisher: University of Washington, Seattle GeneReviews®
Snippet: CLINICAL CHARACTERISTICS: Individuals with NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) typically display a clinical tetrad of developmental delay / intellectual disability in the mild to profound range, hypo- or alacrima, elevated liver transaminases that may spontaneously resolve in childhood, and a complex hyperkinetic movement disorder that can include choreiform, athetoid, dystonic, myoclonic, action tremor, and dysmetric movements.
Affiliation: University of Washington, Seattle Children's Hospital, Seattle, Washington National Institutes of Health, Bethesda, Maryland Imperial College London, London, United Kingdom Duke University, Durham, North Carolina Stanford University, Stanford, California .
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3: Title: Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.
Authors: Owings, Katie G, et.al. .
Journal: Human molecular genetics (Hum Mol Genet), 2018 .
Snippet: NGLY1 is a conserved cytoplasmic component of the Endoplasmic Reticulum Associated Degradation (ERAD) pathway.
Affiliation: Department of Human Genetics, University of Utah School of Medicine. Department of Medicinal Chemistry, University of University of Utah College of Pharmacy. Department of Pharmaceutics & Pharmaceutical Chemistry, University of Utah College of Pharmacy. School of Computing, University of Utah. Current affiliation: Division of Internal Medicine and the Hugh Kaul Personalized Medicine Institute, University of Alabama, Birmingham School of Medicine. .
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4: Title: A New Fluorogenic Probe for the Detection of Endo-β-N-acetylglucosaminidase.
Authors: Ishii, Nozomi, et.al. .
Journal: Chembiochem : a European journal of chemical biology (Chembiochem), 2018 .
Snippet: We confirmed that this assay system is suitable for high-throughput screening for potential inhibitors of human ENGase, which could serve as therapeutic agents for the treatment of NGLY1-deficiency.
Affiliation: Gunma University, Graduate School of Science and Technology, 1-5-1 Tenjin-cho, 376-8515, Kiryu, JAPAN. RIKEN, RIKEN-Max Planck Joint Research Center for Systems Chemical Biology, 2-1 Hirosawa, 351-0198, Wako, JAPAN. Tokyo Chemical Industry Co., Ltd, Glyco Synthetic Lab, 6-15-9 Toshima, 114-0003, Kita-ku, JAPAN. Tokyo Chemical Industry Co., Ltd., Glyco Synthetic Lab, 6-15-9 Toshim, 114-0003, Kita-ku, JAPAN. Gunma University, Division of Molecular Science, 1-5-1 Tenjin-cho, 376-8515, Kiryu, JAPAN. .
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5: Title: Inhibition of NGLY1 Inactivates the Transcription Factor Nrf1 and Potentiates Proteasome Inhibitor Cytotoxicity.
Authors: Tomlin, Frederick M, et.al. .
Journal: ACS central science (Acs Cent Sci), Vol. 3 (11): 1143-1155, 2017 .
Snippet: Here we show that the cytosolic enzyme N-glycanase 1 (NGLY1, the human PNGase) is essential for Nrf1 activation in response to proteasome inhibition.
Affiliation: Department of Chemistry, Stanford University, Stanford, California 94305, United States. Department of Pathology, Virginia Commonwealth University, Richmond, Virginia 23298, United States. Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, California 94305, United States. Genome Biology Unit, European Molecular Biology Laboratory (EMBL), 69117 Heidelberg, Germany. Glycomine, Inc., 953 Indiana Street, San Francisco, California 94107, United States. Glycometabolome Team, Systems Glycobiology Research Group, RIKEN Global Research Cluster, 2-1 Hirosawa, Wako, Saitama 351-0198, Japan. Department of Microbiology and Immunology, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, California 94305, United States. Department of Genetics, School of Medicine, Stanford University, Stanford, California 94305, United States. Howard Hughes Medical Institute, Chevy Chase, Maryland 20815, United States. .
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6: Title: Enzymatic insights into an inherited genetic disorder.
Authors: Zhang, Liping, et.al. .
Journal: eLife, Vol. 6, 2017 .
Snippet: Mutations in an enzyme involved in protein degradation affect a signaling pathway that stimulates the development of the digestive tract.
Affiliation: National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, United States. .
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7: Title: Tissue-specific regulation of BMP signaling by Drosophila N-glycanase 1.
Authors: Galeone, Antonio, et.al. .
Journal: eLife, Vol. 6, 2017 .
Snippet: Mutations in the human N-glycanase 1 (NGLY1) cause a rare, multisystem congenital disorder with global developmental delay.
Affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States. Glycometabolome Team, RIKEN Global Research Cluster, Saitama, Japan. Program in Developmental Biology, Baylor College of Medicine, Houston, United States. .
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8: Title: Mitochondrial function requires NGLY1.
Authors: Kong, Jianping, et.al. .
Journal: Mitochondrion, 2017 .
Snippet: Across these distinct evolutionary models of cytosolic NGLY1 deficiency, a consistent disruption of mitochondrial physiology was present involving modestly reduced mitochondrial content with more pronounced impairment of mitochondrial membrane potential, increased mitochondrial matrix oxidant burden, and reduced cellular respiratory capacity.
Affiliation: Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: kongj1@email.chop.edu. Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Department of Pathology and Lab Medicine, The Children's Hospital of Philadelphia, Philadelphia and University of Pennsylvania Perelman School of Medicine, PA 19104, USA. Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA. Electronic address: falkm@email.chop.edu. .
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9: Title: Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-β-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease.
Authors: Bi, Yiling, et.al. .
Journal: Bioorganic & medicinal chemistry letters (Bioorg Med Chem Lett), Vol. 27 (13): 2962-2966, 2017 .
Snippet: N-Glycanase, encoded by the gene NGLY1, is an important enzyme involved in protein deglycosylation of misfolded proteins.
Affiliation: Department of Medicinal Chemistry, University of Utah, Salt Lake City, Utah 84112, United States. School of Computing, University of Utah, Salt Lake City, Utah 84112, United States. Division of Oncology of School of Medicine and Center for Investigational Therapeutics (CIT) at Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Salt Lake City, Utah 84112, United States. Electronic address: hari@hci.utah.edu. Department of Medicinal Chemistry, University of Utah, Salt Lake City, Utah 84112, United States; Department of Biology, University of Utah, Salt Lake City, Utah 84112, United States; Department of Bioengineering, University of Utah, Salt Lake City, Utah 84112, United States; Interdepartmental Program in Neuroscience, University of Utah, Salt Lake City, Utah 84112, United States. Electronic address: kuby.balagurunathan@utah.edu. .
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10: Title: Lethality of mice bearing a knockout of the Ngly1-gene is partially rescued by the additional deletion of the Engase gene.
Authors: Fujihira, Haruhiko, et.al. .
Journal: PLoS genetics (Plos Genet), Vol. 13 (4): e1006696, 2017 .
Snippet: These observations strongly suggest that the Ngly1- or Ngly1/Engase-deficient mice could serve as a valuable animal model for studies related to the pathogenesis of the NGLY1-deficiency, and that cytoplasmic ENGase represents one of the potential therapeutic targets for this genetic disorder.
Affiliation: Glycometabolome Team, Systems Glycobiology Research Group, RIKEN-Max Planck Joint Research Center, Global Research Cluster, RIKEN, Saitama, Japan. Technology and Development Team for Mouse Phenotype Analysis, Japan Mouse Clinic, BioResourse Center, RIKEN, Ibaraki, Japan. Graduate School of Medical Life Science, Yokohama City University, Kanagawa, Japan. Disease Glycomics Team, Systems Glycobiology Research Group, RIKEN-Max Planck Joint Research Center, Global Research Cluster, RIKEN, Saitama, Japan. Laboratory of Integrative Biological Science, Institute for Frontier Life and Medical Sciences, Kyoto University, Kyoto, Japan. Laboratory of Biochemistry, School of Veterinary Medicine, Azabu University, Kanagawa, Japan. .
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11: Title: Providing Palliative Care in Rare Pediatric Diseases: A Case Series of Three Children with Congenital Disorder of Glycosylation.
Authors: Trowbridge, Amy, et.al. .
Journal: Journal of palliative medicine (J Palliat Med), Vol. 20 (1): 104-106, 2017 .
Snippet: We discuss several unique challenges, illustrated through case studies of three children who shared the rare diagnosis of congenital disorder of glycosylation.
Affiliation: 1 Hospital Medicine and Pediatric Advance Team, Seattle Children's Hospital , Seattle, Washington. 2 Neonatology, Children's Hospital of Philadelphia , Philadelphia, Pennsylvania. 3 Pediatric Intensive Care and Pediatric Advance Care Team, Seattle Children's Hospital , Seattle, Washington. 4 Pediatric Advance Care Team, Children's Hospital of Philadelphia , Philadelphia, Pennsylvania. .
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12: Title: What happens when N = 1 and you want plus 1?
Authors: Might, Matthew, et.al. .
Journal: Prenatal diagnosis (Prenat Diagn), Vol. 37 (1): 70-72, 2017 .
Snippet: Exome sequencing found likely pathogenic variants of uncertain significance in the gene NGLY1.
Affiliation: Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. School of Computing, University of Utah, Salt Lake City, UT, USA. NGLY1 Foundation, Salt Lake City, UT, USA. .
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13: Title: Human genome-wide RNAi screen reveals host factors required for enterovirus 71 replication.
Authors: Wu, Kan Xing, et.al. .
Journal: Nature communications (Nat Commun), Vol. 7, 2016 .
Snippet: A small molecule inhibitor of NGLY1 reduces EV71 replication.
Affiliation: Department of Microbiology and Immunology, National University of Singapore, Singapore 117597, Singapore. Institute of Molecular and Cell Biology, Agency for Science, Technology and Research (A*STAR), Singapore 138673, Singapore. .
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14: Title: Novel small molecule binders of human N-glycanase 1, a key player in the endoplasmic reticulum associated degradation pathway.
Authors: Srinivasan, Bharath, et.al. .
Journal: Bioorganic & medicinal chemistry (Bioorg Med Chem), Vol. 24 (19): 4750-8, 2016 .
Snippet: Peptide:N-glycanase (NGLY1) is an enzyme responsible for cleaving oligosaccharide moieties from misfolded glycoproteins to enable their proper degradation.
Affiliation: Center for the Study of Systems Biology, School of Biology, Georgia Institute of Technology, 950, Atlantic Drive, Atlanta, GA 30332, United States. Electronic address: bharath.srinivasan@biology.gatech.edu. Center for the Study of Systems Biology, School of Biology, Georgia Institute of Technology, 950, Atlantic Drive, Atlanta, GA 30332, United States. Center for the Study of Systems Biology, School of Biology, Georgia Institute of Technology, 950, Atlantic Drive, Atlanta, GA 30332, United States. Electronic address: skolnick@gatech.edu. .
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15: Title: Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Authors: Lam, Christina, et.al. .
Journal: Genetics in medicine : official journal of the American College of Medical Genetics (Genet Med), Vol. 19 (2): 160-168, 2017 .
Snippet: RESULTS: In 12 individuals ages 2 to 21 years with confirmed, biallelic, pathogenic NGLY1 mutations, we identified previously unreported clinical features, including optic atrophy and retinal pigmentary changes/cone dystrophy, delayed bone age, joint hypermobility, and lower than predicted resting energy expenditure.
Affiliation: Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC, USA. Division of Genetics and Developmental Biology, National Institute of General Medical Sciences, National Institutes of Health, Bethesda, Maryland, USA. NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA. Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA. Electromyography Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA. Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA. Department of Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA. Pediatric and Developmental Neuroscience Branch, National Institute of Mental Health, Bethesda, Maryland, USA. Immunology Service, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA. Genetics and Pathogenesis of Allergy Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. Clinical Epilepsy Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA. Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA. Speech and Language Pathology Section, Department of Rehabilitation Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA. Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA. Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Irvine, California, USA. Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. .
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16: Title: Catabolism of N-glycoproteins in mammalian cells: Molecular mechanisms and genetic disorders related to the processes.
Journal: Molecular aspects of medicine (Mol Aspects Med), Vol. 51, 2016 .
Snippet: N-glycans on glycoproteins serve as one of the most important co- and post-translational modifications of proteins, and it has been well established that they play pivotal roles in controlling the physicochemical and/or physiological properties of the carrier proteins.
Affiliation: Glycometabolome Team, Systems Glycobiology Research Group, RIKEN-Max Planck Joint Research Center, Global Research Cluster, RIKEN, 2-1 Hirosawa, Wako, Saitama 351-0198, Japan. Electronic address: tsuzuki_gm@riken.jp. .
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17: Title: The cytoplasmic peptide:N-glycanase (NGLY1) - Structure, expression and cellular functions.
Authors: Suzuki, Tadashi, et.al. .
Journal: Gene, Vol. 577 (1): 1-7, 2016 .
Snippet: NGLY1/Ngly1 is a cytosolic peptide:N-glycanase, i.e. de-N-glycosylating enzyme acting on N-glycoproteins in mammals, generating free, unconjugated N-glycans and deglycosylated peptides in which the N-glycosylated asparagine residues are converted to aspartates.
Affiliation: Glycometabolome Team, Systems Glycobiology Research Group, RIKEN-Max Planck Joint Research Center, Global Research Cluster, RIKEN, 2-1 Hirosawa, Wako, Saitama 351-0198, Japan. Electronic address: tsuzuki_gm@riken.jp. Glycometabolome Team, Systems Glycobiology Research Group, RIKEN-Max Planck Joint Research Center, Global Research Cluster, RIKEN, 2-1 Hirosawa, Wako, Saitama 351-0198, Japan. .
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18: Title: Novel genetic causes for cerebral visual impairment.
Authors: Bosch, Daniëlle G M, et.al. .
Journal: European journal of human genetics : EJHG (Eur J Hum Genet), Vol. 24 (5): 660-5, 2016 .
Snippet: After classification, variants in four genes known to be associated with CVI (AHDC1, NGLY1, NR2F1, PGAP1) in 5 patients (20%) were identified, establishing a conclusive genetic diagnosis for CVI.
Affiliation: Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Bartiméus Institute for the Visually Impaired, Zeist, The Netherlands. Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Hubrecht Institute-KNAW, University Medical Centre Utrecht, CancerGenomics.nl, Utrecht, The Netherlands. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Texas Children's Hospital, Houston, TX, USA. Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. .
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19: Title: New perspectives on the mutated NGLY1 enigma.
Journal: Medical hypotheses (Med Hypotheses), Vol. 85 (5): 584-5, 2015 .
Snippet: The enzyme N-glycanase 1 (NGLY1) is considered a component of the endoplasmic reticulum-associated degradation (ERAD) machinery and clinical manifestations of its dysfunction include global developmental delay, a movement disorder, peripheral neuropathy, liver disorders, microcephaly, diminished reflexes and seizures.
Affiliation: The Goodman Faculty of Life Sciences, Nanotechnology Building, Bar Ilan University, Ramat Gan, Israel. Electronic address: nili@ofranlab.org. .
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20: Title: A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.
Authors: He, Ping, et.al. .
Journal: Glycobiology, Vol. 25 (8): 836-44, 2015 .
Snippet: The mutations in NGLY1 resulted in the absence of N-glycanase 1 protein in patient-derived fibroblasts.
Affiliation: Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Medical Research Institute, 10901 North Torrey Pines Road, La Jolla, CA 92037, USA. Department of Immunobiology, Yale University, School of Medicine, New Haven, CT 06520-8011, USA. Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology and Genetics, Yale University, School of Medicine, New Haven, CT 06510, USA. Department of Molecular and Human Genetics, Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA 94304, USA. Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Medical Research Institute, 10901 North Torrey Pines Road, La Jolla, CA 92037, USA hudson@sanfordburnham.org. .
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