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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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.
europepmc +3 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
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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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The STING pathway drives noninflammatory neurodegeneration in NGLY1 deficiency. [PDF]
J Exp MedThe STING pathway is increasingly recognized as a key regulator of neuroinflammation in neurodegenerative disease, but its role in noninflammatory conditions remains unclear. We generated a postnatal inducible whole-body Ngly1 knockout mouse (iNgly1−/−) to model NGLY1 deficiency, an early-onset neurodegenerative disorder.
Yang K +15 more
europepmc +2 more sources
NGLY1 mutations cause protein aggregation in human neurons [PDF]
Cell Reports, 2023 Summary: Biallelic mutations in the gene that encodes the enzyme N-glycanase 1 (NGLY1) cause a rare disease with multi-symptomatic features including developmental delay, intellectual disability, neuropathy, and seizures. NGLY1’s activity in human neural
Andreea Manole +23 more
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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
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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
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Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. [PDF]
Mol Genet Metab, 2018 N-glycanase deficiency (NGLY1 deficiency, NGLY1-CDDG), the first autosomal recessive congenital disorder of N-linked deglycosylation (CDDG), is caused by pathogenic variants in NGLY1. The majority of affected individuals have been identified using exome or genome sequencing.
Hall PL +12 more
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