Stem Cell Research, 2019 NGLY1 deficiency is a rare genetic disease caused by mutations in the NGLY1 gene that encodes N-glycanase 1. The disease phenotype in patient cells is unclear.
Rong Li +11 more
doaj +2 more sources
Off‐target inhibition of NGLY1 by the polycaspase inhibitor Z‐VAD‐fmk induces cellular autophagy [PDF]
The FEBS Journal, Volume 289, Issue 11, Page 3115-3131, June 2022., 2022 Inhibition of NGLY1 by polycaspase inhibitor Z‐VAD‐fmk in HEK293 cells leads to induction of autophagy and increase in autophagosome formation rather than disruption of autophagic flux. Similarly, autophagy induction is observed with NGLY1 siRNA knockdown.
Sarah H. Needs +4 more
wiley +2 more sources
The TG2/LRP1 Pathway for T Cell Activation by Post-Translationally Modified Antigens. [PDF]
Immunol RevABSTRACT Post‐translational modifications (PTMs) can generate neo‐epitopes, modified peptides that evade immune tolerance and trigger immune responses. This review focuses on the TG2/LRP1 pathway as a new paradigm for coupling the formation of post‐translationally modified peptides with their effective presentation as T‐cell antigens by dendritic cells.
Sewa AS, Yang FC, Khosla C.
europepmc +2 more sources
Transiently elevated plasma methionine, S‐adenosylmethionine and S‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation [PDF]
JIMD Reports, 2019 We report on a 5‐year‐old female born to consanguineous parents, ascertained at the age of 23 months for an elevated plasma methionine level, a mildly abnormal total plasma homocysteine (tHcy), and elevated aminotransferases. She had global developmental
Caitlin A. Chang +4 more
doaj +2 more sources
Structural and Functional Characterization of N-Glycanase-1 Pathogenic Variants [PDF]
CellsNGLY1 deficiency is a congenital disorder of deglycosylation, caused by pathogenic variants of the NGLY1 gene. It manifests as global developmental delay, hypo- or alacrima, hypotonia, and a primarily hyperkinetic movement disorder.
Antje Banning +6 more
doaj +2 more sources
Drug screens of NGLY1 deficiency in worm and fly models reveal catecholamine, NRF2 and anti-inflammatory-pathway activation as potential clinical approaches [PDF]
Disease Models & Mechanisms, 2019 N-glycanase 1 (NGLY1) deficiency is an ultra-rare and complex monogenic glycosylation disorder that affects fewer than 40 patients globally. NGLY1 deficiency has been studied in model organisms such as yeast, worms, flies and mice.
Sangeetha Iyer +8 more
doaj +2 more sources
Regulation of BMP4/Dpp retrotranslocation and signaling by deglycosylation [PDF]
eLife, 2020 During endoplasmic reticulum-associated degradation (ERAD), the cytoplasmic enzyme N-glycanase 1 (NGLY1) is proposed to remove N-glycans from misfolded N-glycoproteins after their retrotranslocation from the ER to the cytosol. We previously reported that
Antonio Galeone +13 more
doaj +2 more sources
Assay for the peptide:N-glycanase/NGLY1 and disease-specific biomarkers for diagnosing NGLY1 deficiency [PDF]
The Journal of Biochemistry, 2021 Abstract Cytosolic peptide:N-glycanase (NGLY1 in mammals), a highly conserved enzyme in eukaryotes, catalyses the deglycosylation of N-glycans that are attached to glycopeptide/glycoproteins. In 2012, an autosomal recessive disorder related to the NGLY1 gene, which was referred to as NGLY1 deficiency, was reported.
Hirayama, Hiroto, Suzuki, Tadashi
openaire +3 more sources
Patient-derived gene and protein expression signatures of NGLY1 deficiency [PDF]
The Journal of Biochemistry, 2021 Abstract N-Glycanase 1 (NGLY1) deficiency is a rare and complex genetic disorder. Although recent studies have shed light on the molecular underpinnings of NGLY1 deficiency, a systematic characterization of gene and protein expression changes in patient-derived cells has been lacking.
Benedikt, Rauscher +18 more
openaire +3 more sources
Generation and characterization of NGLY1 patient-derived midbrain organoids
Frontiers in Cell and Developmental Biology, 2023 NGLY1 deficiency is an ultra-rare, autosomal recessive genetic disease caused by mutations in the NGLY1 gene encoding N-glycanase one that removes N-linked glycan.
Joshua Abbott +12 more
doaj +1 more source