Progressive neurodegeneration, motor decline, and premature mortality in aging Ngly1 deficient rats.

Simultaneous detection of PNGase and ENGase activities in tissue lysate or cytosol using a simply designed high-mannose-type glycopeptide probe containing an Asn-leu-leu sequence.

AAV9-mediated NGLY1 gene replacement suppresses non-epileptic convulsions in Ngly1-/- rats.

NGLY1 as an Emerging Critical Modulator for Neurodevelopment and Pathogenesis in the Brain.

Structural characterization and insights into the formation of N-acetylglucosaminylasparagine and its derivatives in NGLY1-deficient models and patients.

Comparative proteomics of HepG2 cells reveals NGLY1 as an important regulator of ferroptosis resistance and iron uptake.

NGLY1-CDDG: report of two cases from India and brief review of literature.

Natural SEL1L variants rescue a model of NGLY1 deficiency and modify ERAD function and proteasome sensitivity.

NGLY1 deficiency - clinical features and therapeutic strategy.

Preclinical pharmacology and safety studies to support an AAV9 NGLY1 gene therapy clinical trial for the treatment of NGLY1 deficiency.

The STING pathway drives noninflammatory neurodegeneration in NGLY1 deficiency.

Taking the STING out of neurodegenerative disease.

Structural and Functional Characterization of N-Glycanase-1 Pathogenic Variants.

Impaired Proteostasis is Linked to Neurological Pathology in a Zebrafish NGLY1 Deficiency Model.

Increased oxidative stress and autophagy in NGLY1 patient iPSC-derived neural stem cells.

Development of new NGLY1 assay systems - toward developing an early screening method for NGLY1 deficiency.

Structural basis of sugar recognition by SCFFBS2 ubiquitin ligase involved in NGLY1 deficiency.

Systemic gene therapy corrects the neurological phenotype in a mouse model of NGLY1 deficiency.

Mutations in nucleotide metabolism genes bypass proteasome defects in png-1/NGLY1-deficient Caenorhabditis elegans.

Ocular features of NGLY1 deficiency from a prospective longitudinal cohort.

Intranasal oxytocin suppresses seizure-like behaviors in a mouse model of NGLY1 deficiency.

ELISA-based highly sensitive assay system for the detection of endogenous NGLY1 activity.

Development of a fluorescence and quencher-based FRET assay for detection of endogenous peptide:N-glycanase/NGLY1 activity.

A commentary on 'Patient-derived gene and protein expression signatures of NGLY1 deficiency'.

Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.

NGLY1 mutations cause protein aggregation in human neurons.

NGLY1: A fascinating, multifunctional molecule.

NGLY1 deficiency: a prospective natural history study.

Generation and characterization of NGLY1 patient-derived midbrain organoids.

An induced pluripotent stem cell-derived NMJ platform for study of the NGLY1-Congenital Disorder of Deglycosylation.

NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.

AAV9-NGLY1 gene replacement therapy improves phenotypic and biomarker endpoints in a rat model of NGLY1 Deficiency.

Comparative proteomics reveals elevated CCN2 in NGLY1-deficient cells.

N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts.

How do genetic tests answer questions about neurodevelopmental differences? A sociological take.

Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient.

NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems.

An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency.

Comprehensive Analysis of the Structure and Function of Peptide:N-Glycanase 1 and Relationship with Congenital Disorder of Deglycosylation.

NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology.

Deficiency of N-glycanase 1 perturbs neurogenesis and cerebral development modeled by human organoids.

Delineating the epilepsy phenotype of NGLY1 deficiency.

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.

Ever-expanding NGLY1 biology.

A method for assaying peptide: N-glycanase/N-glycanase 1 activities in crude extracts using an N-glycosylated cyclopeptide.

Patient-derived gene and protein expression signatures of NGLY1 deficiency.

N-Glycanase 1 Deficiency Is a Rare Cause of Pediatric Neurodegeneration With Neuronal Inclusions and Liver Steatosis.

Assay for the peptide:N-glycanase/NGLY1 and disease-specific biomarkers for diagnosing NGLY1 deficiency.

NGLY1: insights from Caenorhabditis elegans.

GlcNAc-Asn is a biomarker for NGLY1 deficiency.

Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9.

Physiological importance of NGLY1, as revealed by rodent model analyses.

Tracing the NGLY1 footprints: insights from Drosophila.

Loss of peptide:N-glycanase causes proteasome dysfunction mediated by a sugar-recognizing ubiquitin ligase.

Reversibility of motor dysfunction in the rat model 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.

NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.

JF1/B6F1 Ngly1-/- mouse as an isogenic animal model of NGLY1 deficiency.

NGLY1 deficiency: Novel variants and literature review.

[Congenital disorder of deglycosylation associated with N-glycanse 1 deficiency].

A conserved role for AMP-activated protein kinase in NGLY1 deficiency.

A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency.

Liver failure and x-linked immunodeficiency type 47.

Cytosolic N-GlcNAc proteins are formed by the action of endo-β-N-acetylglucosaminidase.

Regulation of BMP4/Dpp retrotranslocation and signaling by deglycosylation.

Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation.

Liver involvement in NGLY1 congenital disorder of deglycosylation.

NGLY1 deficiency-A rare congenital disorder of deglycosylation.

Structured reviews for data and knowledge-driven research.

Loss of N-Glycanase 1 Alters Transcriptional and Translational Regulation in K562 Cell Lines.

Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems.

NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.

Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.

N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity.

Liver-specific deletion of Ngly1 causes abnormal nuclear morphology and lipid metabolism under food stress.

Drug screens of NGLY1 deficiency in worm and fly models reveal catecholamine, NRF2 and anti-inflammatory-pathway activation as potential clinical approaches.

Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation.

An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene.

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.

Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry.

Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.

Protein Sequence Editing of SKN-1A/Nrf1 by Peptide:N-Glycanase Controls Proteasome Gene Expression.

Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency.

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.

N-glycanase NGLY1 regulates mitochondrial homeostasis and inflammation through NRF1.

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.

Defects in the Neuroendocrine Axis Contribute to Global Development Delay in a Drosophila Model of NGLY1 Deficiency.

Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.

Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.

A New Fluorogenic Probe for the Detection of endo-β-N-Acetylglucosaminidase.

Mitochondrial function requires NGLY1.

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.

Lethality of mice bearing a knockout of the Ngly1-gene is partially rescued by the additional deletion of the Engase gene.

Providing Palliative Care in Rare Pediatric Diseases: A Case Series of Three Children with Congenital Disorder of Glycosylation.

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.

Catabolism of N-glycoproteins in mammalian cells: Molecular mechanisms and genetic disorders related to the processes.

The cytoplasmic peptide:N-glycanase (NGLY1) - Structure, expression and cellular functions.

New perspectives on the mutated NGLY1 enigma.