Associated Papers
NGLY1 as an Emerging Critical Modulator for Neurodevelopment and Pathogenesis in the Brain.
Zhang H et al.
International Journal of Molecular Sciences, 2025
NGLY1 deficiency - clinical features and therapeutic strategy.
Fujihira H et al.
Journal of Human Genetics, 2025
Structural and Functional Characterization of N-Glycanase-1 Pathogenic Variants.
Banning A et al.
Cells, 2025
Increased oxidative stress and autophagy in NGLY1 patient iPSC-derived neural stem cells.
Shyr ZA et al.
Experimental Cell Research, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
NGLY1-CDDG: report of two cases from India and brief review of literature.
Dave MB et al.
Journal of Genetics, 2025
Tofacitinib Improves Motor Symptoms in Parkinsonism Associated with a Heterozygous NGLY1 Variant and Autoimmune Disease.
Reina-Llompart N et al.
European Journal of Case Reports in Internal Medicine, 2025
Functional prediction of the potential NGLY1 mutations associated with rare disease CDG.
Yuan S et al.
Heliyon, 2024
NGLY1 mutations cause protein aggregation in human neurons.
Manole A et al.
Cell Reports, 2023
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts.
Rossen JL et al.
Genes, 2023
N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts.
Budhraja R et al.
Journal of Inherited Metabolic Disease, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.
Stanclift CR et al.
Orphanet Journal of Rare Diseases, 2022
An induced pluripotent stem cell-derived NMJ platform for study of the NGLY1-Congenital Disorder of Deglycosylation.
Sasserath T et al.
Advanced Therapeutics, 2022
An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency.
Hope KA et al.
Plos Genetics, 2022
Delineating the epilepsy phenotype of NGLY1 deficiency.
Levy RJ et al.
Journal of Inherited Metabolic Disease, 2022
Comprehensive Analysis of the Structure and Function of Peptide:N-Glycanase 1 and Relationship with Congenital Disorder of Deglycosylation.
Miao X et al.
Nutrients, 2022
NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology.
Pandey A et al.
Cells, 2022
A method for assaying peptide: N-glycanase/N-glycanase 1 activities in crude extracts using an N-glycosylated cyclopeptide.
Hirayama H et al.
Glycobiology, 2022
NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems.
Mesika A et al.
Frontiers in Cell and Developmental Biology, 2022
Corrigendum to "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" [Stem Cell Res. 56 (2021) 102554].
Pavlinov I et al.
Stem Cell Research, 2021
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.
Pavlinov I et al.
Stem Cell Research, 2021
N-Glycanase 1 Deficiency Is a Rare Cause of Pediatric Neurodegeneration With Neuronal Inclusions and Liver Steatosis.
Stuut T et al.
Cureus, 2021
Precision genetic cellular models identify therapies protective against ER stress.
Lebedeva IV et al.
Cell Death & Disease, 2021
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
Dabaj I et al.
Life (basel, Switzerland), 2021
Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation.
Lipiński P et al.
Frontiers in Pediatrics, 2021
A conserved role for AMP-activated protein kinase in NGLY1 deficiency.
Han SY et al.
Plos Genetics, 2020
Using whole-exome sequencing and protein interaction networks to prioritize candidate genes for germline cutaneous melanoma susceptibility.
Yepes S et al.
Scientific Reports, 2020
Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation.
Ge H et al.
Bmc Medical Genetics, 2020
NGLY1 deficiency-A rare congenital disorder of deglycosylation.
Lipari Pinto P et al.
Jimd Reports, 2020
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Panneman DM et al.
Clinical Genetics, 2020
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
Abuduxikuer K et al.
Journal of Human Genetics, 2020
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
Lipiński P et al.
Jimd Reports, 2020
N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity.
Tambe MA et al.
Cell Reports, 2019
Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation.
Chang CA et al.
Jimd Reports, 2019
An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene.
Yang S et al.
Stem Cell Research, 2019
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Lam C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Stavropoulos DJ et al.
Npj Genomic Medicine, 2016
Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations.
Heeley J et al.
American Journal of Medical Genetics. Part A, 2015
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Enns GM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Mutations in NGLY1 gene linked with new genetic disorder: parents' reports of children's symptoms help facilitate the discovery.
Unknown Author
American Journal of Medical Genetics. Part A, 2014
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