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
doaj +6 more sources
NGLY1 deficiency—A rare congenital disorder of deglycosylation [PDF]
JIMD Reports, 2020 Pathogenic variants in the NGLY1 gene are associated with a Congenital Disorder of Deglycosylation (CDDG) characterized by delays in reaching developmental milestones, complex hyperkinetic movement disorder, transient elevation of transaminases, and ...
Patrícia Lipari Pinto +6 more
doaj +5 more sources
Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation [PDF]
BMC Medical Genetics, 2020 Background NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnormal liver function, and poor ...
Haixia Ge +6 more
doaj +7 more sources
Congenital disorder of deglycosylation 2. Report of a novel MAN2C1 pathogenic variant and additional phenotypic implications [PDF]
Molecular Genetics and Metabolism ReportsThe MAN2C1 gene encodes an enzyme with alpha-mannosidase 2C1 activity, which is responsible for the degradation of defective glycoproteins in the cytoplasm.
Rafael Luis Aguirre-Guillen +7 more
doaj +6 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 +6 more sources
Liver involvement in NGLY1 congenital disorder of deglycosylation [PDF]
Polish Journal of Pathology, 2020 N-glycanase 1 deficiency is a congenital disorder of deglycosylation, which has been diagnosed in 27 patients, including 2 of them from Poland. The most characteristic symptoms include global developmental disability, hyperkinetic movement disorder, hypo-
Patryk Lipiński +3 more
doaj +5 more sources
Comprehensive Analysis of the Structure and Function of Peptide:N-Glycanase 1 and Relationship with Congenital Disorder of Deglycosylation [PDF]
Nutrients, 2022 The cytosolic PNGase (peptide:N-glycanase), also known as peptide-N4-(N-acetyl-β-glucosaminyl)-asparagine amidase, 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 (Asn, N) into a N-acetyl-β-d-glucosaminyl-amine and a peptide containing an ...
Jin Wu, Hongping Chen, Guanting Lu
exaly +4 more sources
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation [PDF]
Genetics in Medicine, 2017 The cytosolic enzyme N-glycanase 1, encoded by NGLY1, catalyzes cleavage of the β-aspartyl glycosylamine bond of N-linked glycoproteins, releasing intact N-glycans from proteins bound for degradation. In this study, we describe the clinical spectrum of NGLY1 deficiency (NGLY1-CDDG).Prospective natural history protocol.In 12 individuals ages 2 to 21 ...
Cristan Farmer +2 more
exaly +7 more sources
A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. [PDF]
Glycobiology, 2015 N-Glycanase 1, encoded by NGLY1, catalyzes the deglycosylation of misfolded N-linked glycoproteins retrotranslocated into the cytosol. We identified nine cases with mutations in NGLY1. The patients show developmental delay, seizures, peripheral neuropathy, abnormal liver function and alacrima (absence of tears).
Hudson H. Freeze +2 more
exaly +5 more sources
Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation [PDF]
Frontiers in Pediatrics, 2021 Background: Congenital disorders of glycosylation (CDG) and NGLY1-CDDG (NGLY1-congenital disorder of deglycosylation) usually represent multisystem (especially neurovisceral) diseases with liver involvement reported in some of them.
Patryk Lipiński +3 more
doaj +3 more sources