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). The 2012 identification of recessive NGLY1 mutations in a rare multisystem disorder has led to intense research efforts on the roles of NGLY1 in animal
Ashutosh Pandey +3 more
doaj +6 more sources
NGLY1 deficiency—A rare congenital disorder of deglycosylation [PDF]
JIMD Reports, 2020 AbstractPathogenic 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 alacrima or hypolacrima.
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 Abstract 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 growth.
Haixia Ge +6 more
doaj +7 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 AbstractWe 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 delay, microcephaly, dysmorphic facial features, hypotonia, nystagmus and tremor in her ...
Caitlin A. Chang +4 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 ...
Xiangguang Miao +3 more
europepmc +4 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-/alacrimia, and elevated serum transaminases.
Patryk Lipiński +3 more
doaj +5 more sources
An Induced Pluripotent Stem Cell‐Derived Neuromuscular Junction Platform for Study of the NGLY1‐Congenital Disorder of Deglycosylation [PDF]
Advanced Therapeutics, 2022 AbstractThere are many neurological rare diseases where animal models have proven inadequate or do not currently exist. NGLY1 deficiency, a congenital disorder of deglycosylation, is a rare disease that predominantly affects motor control, especially control of neuromuscular action.
Trevor Sasserath +15 more
europepmc +3 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. The aim of the study was to characterize the liver phenotype in CDG and NGLY1-CDDG patients hospitalized in our Institute,
Patryk Lipiński +3 more
doaj +5 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 ...
Lam, Christina +23 more
europepmc +6 more sources
A congenital disorder of deglycosylation: Biochemical characterization ofN-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).
Ping, He +7 more
europepmc +4 more sources