An Assay System for Plate-based Detection of Endogenous Peptide:N-glycanase/NGLY1 Activity Using A Fluorescence-based Probe [PDF]
Bio-ProtocolCytosolic peptide: N-glycanase (PNGase/NGLY1 in mammals), an amidase classified under EC:3.5.1.52, is a highly conserved enzyme across eukaryotes that catalyzes the removal of N-glycans from glycoproteins, converting N-glycosylated asparagine residues ...
Hiroto Hirayama, Tadashi Suzuki
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NGLY1 deficiency—A rare congenital disorder of deglycosylation
JIMD Reports, 2020 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 ...
Patrícia Lipari Pinto +6 more
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Systemic gene therapy corrects the neurological phenotype in a mouse model of NGLY1 deficiency [PDF]
JCI InsightThe cytoplasmic peptide:N-glycanase (NGLY1) is ubiquitously expressed and functions as a de–N-glycosylating enzyme that degrades misfolded N-glycosylated proteins.
Ailing Du +9 more
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Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants
Molecular Genetics & Genomic Medicine, 2022 Background We aimed to determine the molecular and biochemical basis of an extended highly consanguineous family with multiple children presenting severe congenital hypotonia.
Limor Kalfon +9 more
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Liver involvement in NGLY1 congenital disorder of deglycosylation [PDF]
Polish Journal of Pathology, 2020 N-glycanase 1 deficiency is a congenital disorder of deglycosylation, which has been diagnosed in 27 patients, including 2 of them from Poland. The most characteristic symptoms include global developmental disability, hyperkinetic movement disorder, hypo-
Patryk Lipiński +3 more
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The role of lactylation in plasma cells and its impact on rheumatoid arthritis pathogenesis: insights from single-cell RNA sequencing and machine learning. [PDF]
Front ImmunolIntroductionRheumatoid arthritis (RA) is a chronic autoimmune disorder characterized by persistent synovitis, systemic inflammation, and autoantibody production.
Fu W, Wang T, Lu Y, Shi T, Yang Q.
europepmc +3 more sources
Impaired Proteostasis is Linked to Neurological Pathology in a Zebrafish NGLY1 Deficiency Model. [PDF]
J Inherit Metab DisABSTRACT NGLY1 is a key enzyme in the process of misfolded protein deglycosylation. Bi‐allelic pathogenic variants in NGLY1 cause N‐glycanase deficiency, also known as congenital disorder of deglycosylation (NGLY1‐CDDG). This rare and multisystem autosomal recessive disorder is linked to a variable phenotype of global developmental delay, neuromuscular
Mesika A +8 more
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Ever-expanding NGLY1 biology [PDF]
The Journal of Biochemistry, 2021 Abstract The cytosolic peptide:N-glycanase (PNGase; NGLY1 in humans) is a deglycosylating enzyme that is widely conserved in eukaryotes. This enzyme is involved in the degradation of misfolded N-glycoproteins that are destined for proteasomal degradation in the cytosol, a process that is called endoplasmic reticulum-associated ...
Tadashi, Suzuki, Yukiko, Yoshida
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NGLY1 deficiency: a prospective natural history study. [PDF]
Hum Mol Genet, 2023 Abstract N-glycanase 1 (NGLY1) deficiency is a debilitating, ultra-rare autosomal recessive disorder caused by loss of function of NGLY1, a cytosolic enzyme that deglycosylates other proteins. It is characterized by severe global developmental delay and/or intellectual disability, hyperkinetic movement disorder, transient elevation of
Tong S +10 more
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Ferroptosis regulation by the NGLY1/NFE2L1 pathway [PDF]
Proceedings of the National Academy of Sciences, 2021 Significance Ferroptosis is an oxidative form of cell death whose biochemical regulation remains incompletely understood. Cap’n’collar (CNC) transcription factors including nuclear factor erythroid-2–related factor 1 (NFE2L1/NRF1) and NFE2L2/NRF2 can both regulate oxidative stress pathways but are each regulated in a distinct manner ...
Giovanni C. Forcina +6 more
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