Associated Papers
NGLY1 deficiency - clinical features and therapeutic strategy.
Fujihira H et al.
Journal of Human 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
N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts.
Budhraja R et al.
Journal of Inherited Metabolic Disease, 2023
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 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
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands C et al.
Scientific Reports, 2021
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
Dabaj I et al.
Life (basel, Switzerland), 2021
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
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