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
Functional prediction of the potential NGLY1 mutations associated with rare disease CDG.
Yuan S et al.
Heliyon, 2024
Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.
Sonoda Y et al.
European Journal of Medical Genetics, 2024
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
An induced pluripotent stem cell-derived NMJ platform for study of the NGLY1-Congenital Disorder of Deglycosylation.
Sasserath T et al.
Advanced Therapeutics, 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
Patient-derived gene and protein expression signatures of NGLY1 deficiency.
Rauscher B et al.
Journal of Biochemistry, 2022
An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene.
Pradhan M et al.
Stem Cell Research, 2021
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
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Baldridge D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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