Mutations in nucleotide metabolism genes bypass proteasome defects in png-1/NGLY1-deficient Caenorhabditis elegans. [PDF]
PLoS BiolYanagi KS +5 more
europepmc +1 more source
Development of a fluorescence and quencher-based FRET assay for detection of endogenous peptide:N-glycanase/NGLY1 activity. [PDF]
J Biol ChemHirayama H +6 more
europepmc +1 more source
Harnessing induced pluripotent stem cells and organoids for disease modeling and precision medicine. [PDF]
Stem Cell Res TherLee CJ, Nam Y, Rim YA, Ju JH.
europepmc +1 more source
Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases. [PDF]
Mol Genet MetabAltassan R +4 more
europepmc +1 more source
Functional prediction of the potential NGLY1 mutations associated with rare disease CDG. [PDF]
HeliyonYuan S +10 more
europepmc +1 more source
NGLY1 deficiency—A rare congenital disorder of deglycosylation [PDF]
JIMD Reports, 2020 Abstract Pathogenic variants in the NGLY1 gene are associated with a Congenital Disorder of Deglycosylation (CDDG) characterized by delays in reaching developmental milestones, complex hyperkinetic movement disorder, transient elevation of transaminases, and alacrima or hypolacrima.
Patricia Lipari Pinto, Ana Berta Sousa
exaly +3 more sources
NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems [PDF]
Frontiers in Cell and Developmental Biology, 2022 Limor Kalfon +2 more
exaly +2 more sources
GlcNAc-Asn is a biomarker for NGLY1 deficiency [PDF]
Journal of Biochemistry, 2022 Brett E Crawford
exaly +2 more sources
AAV9-NGLY1 gene replacement therapy improves phenotypic and biomarker endpoints in a rat model of NGLY1 Deficiency [PDF]
Molecular Therapy - Methods and Clinical Development, 2022 Brett E Crawford, William F Mueller
exaly +2 more sources
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation [PDF]
Life, 2021 Ivana Dabaj +2 more
exaly +2 more sources