Results 21 to 30 of about 756 (108)
Development of new NGLY1 assay systems - toward developing an early screening method for NGLY1 deficiency. [PDF]
GlycobiologyCytosolic 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
Hirayama H, Fujihira H, Suzuki T.
europepmc +2 more sources
The FASEB Journal, 2014 N‐glycanase 1, encoded by NGLY1, catalyzes the deglycosylation of misfolded N‐linked glycoproteins. Using whole‐genome and ‐exome sequencing, we identified 6 cases with mutations in NGLY1. The patients show developmental delay, seizures, peripheral neuropathy, abnormal liver function, and absent tears.
Ping He +8 more
openaire +2 more sources
Editorial: Inherited Protein Glycosylation Defects in Humans [PDF]
Frontiers in Genetics, 2022 Aleksandra Jezela-Stanek +2 more
doaj +2 more sources
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation
Life, 2021 NGLY1 deficiency is the first recognized autosomal recessive disorder of N-linked deglycosylation (NGLY1-CDDG). This severe multisystemic disease is still poorly known and, to date, most cases have been diagnosed through whole exome or genome sequencing.
Ivana Dabaj +12 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2022 Purpose NGLY1 Deficiency is an ultra-rare, multisystemic disease caused by biallelic pathogenic NGLY1 variants. The aims of this study were to (1) characterize the variants and clinical features of the largest cohort of NGLY1 Deficiency patients reported
Caroline R. Stanclift +8 more
doaj +1 more source
Congenital disorder of deglycosylation associated with N-glycanse 1 deficiency
Postepy biochemii, 2020 Together with the lysosomal storage diseases, N-glycanase 1 deficiency is a congenital disorder of deglycosylation, which has been diagnosed in 27 patients, including two of them from Poland. The pathogenesis remains unknown, however, the main role is attributed to the disturbed endoplasmic reticulum-associated protein degradation process.
Patryk, Lipiński +1 more
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American Journal of Human Genetics, 2022 Summary Free oligosaccharides (fOSs) are soluble oligosaccharide species generated during N-glycosylation of proteins. Although little is known about fOS metabolism, the recent identification of NGLY1 deficiency, a congenital disorder of deglycosylation (
Nuno Maia +24 more
semanticscholar +1 more source
Peptide: N-Glycanase 1 and Its Relationship with Congenital Disorder of Deglycosylation
, 2022 The cytosolic PNGase (peptide:N-glycanase; Png1 in yeast; NGLY1/Ngly1 in human/mice), also known as peptide-N4-(N-acetyl-beta-glucosaminyl)-asparagine ami-dase, is a well-conserved deglycosylation enzyme (EC 3.5.1.52) which catalyzes the non-lysosomal hydrolysis of an N(4)-(acetyl-β-D-glucosaminyl) asparagine residue into N-acetyl-β-D-
Xiangguang Miao +3 more
openaire +1 more source
Shedding light on NGLY1 deficiency: a call for awareness and support
Journal of Rare Diseases, 2023 NGLY1 deficiency is an ultra-rare autosomal recessive disorder caused by loss of function variants in the NGLY1 gene, representing the first known congenital disorder of deglycosylation.
Zainab Hasan +1 more
semanticscholar +1 more source
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 +1 more source