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 +6 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 +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
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 +5 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 +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 ...
Lam, Christina +23 more
europepmc +7 more sources
Structural and Functional Characterization of N-Glycanase-1 Pathogenic Variants [PDF]
CellsNGLY1 deficiency is a congenital disorder of deglycosylation, caused by pathogenic variants of the NGLY1 gene. It manifests as global developmental delay, hypo- or alacrima, hypotonia, and a primarily hyperkinetic movement disorder.
Antje Banning +6 more
doaj +4 more sources
Sugar coating autophagy: exploring the links between the inhibition of NGLY1 (N-glycanase 1) and autophagy induction [PDF]
Autophagy Reports, 2023 The cytosolic enzyme NGLY1 (N-glycanase 1) is a central mediator of glycoprotein catabolism. The enzyme acts to cleave N-linked glycans from modified substrate asparagine residues prior to degradation of misfolded proteins by the proteasome, playing a ...
Holger B. R. Kramer, Sarah Ann Allman
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