Associated Papers
NGLY1 deficiency - clinical features and therapeutic strategy.
Fujihira H et al.
Journal of Human Genetics, 2025
NGLY1-CDDG: report of two cases from India and brief review of literature.
Dave MB et al.
Journal of Genetics, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Functional prediction of the potential NGLY1 mutations associated with rare disease CDG.
Yuan S et al.
Heliyon, 2024
N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts.
Budhraja R et al.
Journal of Inherited Metabolic Disease, 2023
Generation and characterization of NGLY1 patient-derived midbrain organoids.
Abbott J et al.
Frontiers in Cell and Developmental Biology, 2023
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.
Stanclift CR et al.
Orphanet Journal of Rare Diseases, 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
Patient-derived gene and protein expression signatures of NGLY1 deficiency.
Rauscher B et al.
Journal of Biochemistry, 2022
NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems.
Mesika A et al.
Frontiers in Cell and Developmental Biology, 2022
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
Dabaj I et al.
Life (basel, Switzerland), 2021
NGLY1 deficiency-A rare congenital disorder of deglycosylation.
Lipari Pinto P et al.
Jimd Reports, 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
An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene.
Huang W et al.
Stem Cell Research, 2019
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.
Li R et al.
Stem Cell Research, 2019
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
A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.
He P et al.
Glycobiology, 2015