A conserved role for AMP-activated protein kinase in NGLY1 deficiency. [PDF]
PLoS Genetics, 2020 Mutations in human N-glycanase 1 (NGLY1) cause the first known congenital disorder of deglycosylation (CDDG). Patients with this rare disease, which is also known as NGLY1 deficiency, exhibit global developmental delay and other phenotypes including ...
Seung Yeop Han +6 more
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Intranasal oxytocin suppresses seizure-like behaviors in a mouse model of NGLY1 deficiency [PDF]
Communications BiologyNGLY1 deficiency is a genetic disease caused by biallelic mutations of the Ngly1 gene. Although epileptic seizure is one of the most severe symptoms in patients with NGLY1 deficiency, preclinical studies have not been conducted due to the lack of animal ...
Yukimasa Makita +4 more
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NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology [PDF]
Cells, 2022 N-Glycanase 1 (NGLY1) is a cytosolic enzyme involved in removing N-linked glycans of misfolded N-glycoproteins and is considered to be a component of endoplasmic reticulum-associated degradation (ERAD).
Ashutosh Pandey +3 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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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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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.
Tadashi Suzuki +2 more
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NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm [PDF]
JIMD Reports, 2020 Objectives Together with the lysosomal storage diseases, NGLY1 deficiency is a congenital disorder of deglycosylation (NGLY1‐CDDG). Since the first report in 2012, 26 patients have been described. All but one were diagnosed by exome or genome sequencing;
Patryk Lipiński +4 more
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Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency [PDF]
Molecular Genetics and Metabolism, 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.
Gérard Berry +2 more
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Progressive neurodegeneration, motor decline, and premature mortality in aging Ngly1 deficient rats [PDF]
Orphanet Journal of Rare DiseasesBackground N-glycanase 1 (NGLY1) Deficiency is an ultra-rare autosomal recessive disorder of deglycosylation caused by loss-of-function mutations in the NGLY1 gene. Patients present with developmental delay, intellectual disability, hyperkinetic movement
Lei Zhu +3 more
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