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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An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency [PDF]
PLoS Genetics, 2022 NGLY1 deficiency, a rare disease with no effective treatment, is caused by autosomal recessive, loss-of-function mutations in the N-glycanase 1 (NGLY1) gene and is characterized by global developmental delay, hypotonia, alacrima, and seizures.
Kevin A. Hope +3 more
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JF1/B6F1 Ngly1-/- mouse as an isogenic animal model of NGLY1 deficiency. [PDF]
Proc Jpn Acad Ser B Phys Biol Sci, 2021 N-Glycanase 1 (NGLY1) deficiency is a congenital disorder caused by mutations in the NGLY1 gene. Because systemic Ngly1-/- mice with a C57BL/6 (B6) background are embryonically lethal, studies on the mechanism of NGLY1 deficiency using mice have been problematic.
Asahina M +6 more
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Correction to: Reversibility of motor dysfunction in the rat model of NGLY1 deficiency [PDF]
Molecular Brain, 2021 Makoto Asahina +5 more
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Off‐target inhibition of NGLY1 by the poly‐caspase inhibitor Z‐VAD‐fmk induces cellular autophagy [PDF]
The FEBS Journal, Volume 289, Issue 11, Page 3115-3131, June 2022., 2022 The pan-caspase inhibitor Z-VAD-fmk acts as an inhibitor of peptide:N-glycanase (NGLY1); an endoglycosidase which cleaves N-inked glycans from glycoproteins exported from the endoplasmic reticulum (ER) during ER-associated degradation (ERAD).
Allman, Sarah A. +4 more
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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
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Natural SEL1L variants rescue a model of NGLY1 deficiency and modify ERAD function and proteasome sensitivity. [PDF]
PLoS GeneticsN-glycanase 1 (NGLY1) deficiency is an ultra-rare disease caused by autosomal recessive loss-of-function mutations in the NGLY1 gene. NGLY1 removes N-linked glycans from glycoproteins in the cytoplasm and is thought to help clear misfolded proteins from ...
Travis K Tu'ifua, Clement Y Chow
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Development of new NGLY1 assay systems - toward developing an early screening method for NGLY1 deficiency. [PDF]
GlycobiologyAbstract Cytosolic peptide: N-glycanase (PNGase/NGLY1 in mammals) is an amidase (EC:3.5.1.52) widely conserved in eukaryotes. It catalyzes the removal of N-glycans on glycoproteins, converting N-glycosylated Asn into Asp residues. This enzyme also plays a role in the quality control system for nascent glycoproteins.
Hirayama H, Fujihira H, Suzuki T.
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Defects in the Neuroendocrine Axis Contribute to Global Development Delay in a Drosophila Model of NGLY1 Deficiency [PDF]
G3: Genes, Genomes, Genetics, 2018 N-glycanase 1 (NGLY1) Deficiency is a rare monogenic multi-system disorder first described in 2014. NGLY1 is evolutionarily conserved in model organisms.
Tamy Portillo Rodriguez +5 more
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Journal of Inherited Metabolic Disease, 2022 AbstractCongenital disorders of glycosylation are genetic disorders that occur due to defects in protein and lipid glycosylation pathways. A deficiency of N‐glycanase 1, encoded by the NGLY1 gene, results in a congenital disorder of deglycosylation.
Rohit Budhraja +8 more
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