ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers, 1 of them a synthesis that pooled it.
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Who cites it
92 citing papers in PubMed, 1 synthesis or guideline pooled it, 145 citations in OpenAlex.
- Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Pooled it
- Clinical and molecular spectrum of congenital disorders of glycosylation in 80 Egyptian patients.Human genetics · 2026Article
- MRI Characterization of Structural Brain Abnormalities in NGLY1 Deficiency.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2026Article
- Impacts of N-glycanase1 (NGLY1) Down Regulation on the Function of Mitochondria.Journal of cellular biochemistry · 2026Article
- Progressive neurodegeneration, motor decline, and premature mortality in aging Ngly1 deficient rats.Orphanet journal of rare diseases · 2026Article
- Cytosolic Peptide: N-Glycanase (NGLY1)-from Basic Biology to Genetic Disorder, NGLY1 Deficiency.Advances in experimental medicine and biology · 2026Review
- Structural characterization of zebrafish Ngly2, an ovary-enriched acid PNGase required for egg-free glycan production.The Journal of biological chemistry · 2025Article
- Evaluation, Diagnosis, and Treatment of Concomitant Movement Disorders in Genetic Epilepsies.Epilepsy currents · 2025Review
- Review
- NGLY1 as an Emerging Critical Modulator for Neurodevelopment and Pathogenesis in the Brain.International journal of molecular sciences · 2025Review
- The STING pathway drives noninflammatory neurodegeneration in NGLY1 deficiency.The Journal of experimental medicine · 2025Article
- Preclinical pharmacology and safety studies to support an AAV9 NGLY1 gene therapy clinical trial for the treatment of NGLY1 deficiency.Molecular therapy. Methods & clinical development · 2025Article
- NGLY1 deficiency - clinical features and therapeutic strategy.Journal of human genetics · 2025Review
- Article
- Impaired Proteostasis is Linked to Neurological Pathology in a Zebrafish NGLY1 Deficiency Model.Journal of inherited metabolic disease · 2025Article
- Increased oxidative stress and autophagy in NGLY1 patient iPSC-derived neural stem cells.Experimental cell research · 2025Article
- Causes of mortality in the congenital disorders of glycosylation.Molecular genetics and metabolism · 2025Article
- An Assay System for Plate-based Detection of Endogenous Peptide:Bio-protocol · 2025Article
- NGLY1-CDDG: report of two cases from India and brief review of literature.Journal of genetics · 2025Review
- Sterile activation of RNA-sensing pathways in autoimmunity.Journal of molecular cell biology · 2024Review
32 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
24 authors at 4 institutions in 1 country.
Funding
Abstract
purposeThe cytosolic enzyme N-glycanase 1, encoded by NGLY1, catalyzes cleavage of the β-aspartyl glycosylamine bond of N-linked glycoproteins, releasing intact N-glycans from proteins bound for degradation. In this study, we describe the clinical spectrum of NGLY1 deficiency (NGLY1-CDDG).
methodsProspective natural history protocol.
resultsIn 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. Novel laboratory findings include low cerebral spinal fluid (CSF) total protein and albumin and unusually high antibody titers toward rubella and/or rubeola following vaccination. We also confirmed and further quantified previously reported findings noting that decreased tear production, transient transaminitis, small feet, a complex hyperkinetic movement disorder, and varying degrees of global developmental delay with relatively preserved socialization are the most consistent features.
conclusionOur prospective phenotyping expands the clinical spectrum of NGLY1-CDDG, offers prognostic information, and provides baseline data for evaluating therapeutic interventions.Genet Med 19 2, 160-168.
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Registered trials
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