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Comprehensive Analysis of the Structure and Function of Peptide:N-Glycanase 1 and Relationship with Congenital Disorder of Deglycosylation.
Miao X, Wu J, Chen H, Lu G. Miao X, et al. Nutrients. 2022 Apr 19;14(9):1690. doi: 10.3390/nu14091690. Nutrients. 2022. PMID: 35565658 Free PMC article. Review.
This enzyme (NGLY1) plays an essential role in the clearance of misfolded or unassembled glycoproteins through a process named ER-associated degradation (ERAD). Accumulating evidence also points out that NGLY1 deficiency can cause an autosomal recessive (AR) human g …
This enzyme (NGLY1) plays an essential role in the clearance of misfolded or unassembled glycoproteins through a process named ER-associated …
NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology.
Pandey A, Adams JM, Han SY, Jafar-Nejad H. Pandey A, et al. Cells. 2022 Mar 29;11(7):1155. doi: 10.3390/cells11071155. Cells. 2022. PMID: 35406718 Free PMC article. Review.
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 development and physiology, as well as the pathophysiology of NGLY1 deficiency. Here, we present a review of the N …
The 2012 identification of recessive NGLY1 mutations in a rare multisystem disorder has led to intense research efforts on the roles of NGLY …
Tracing the NGLY1 footprints: insights from Drosophila.
Pandey A, Jafar-Nejad H. Pandey A, et al. J Biochem. 2022 Feb 21;171(2):153-160. doi: 10.1093/jb/mvab084. J Biochem. 2022. PMID: 34270726 Free PMC article. Review.
One of the models utilized to understand the biology of NGLY1 and the pathophysiology of NGLY1 deficiency is Drosophila melanogaster, a well-established, genetically tractable organism broadly used to study various biological processes and human diseases. ...We hope …
One of the models utilized to understand the biology of NGLY1 and the pathophysiology of NGLY1 deficiency is Drosophila melano …
[Congenital disorder of deglycosylation associated with N-glycanse 1 deficiency].
Lipiński P, Tylki-Szymańska A. Lipiński P, et al. Postepy Biochem. 2020 Feb 10;66(1):38-41. doi: 10.18388/pb.2020_306. Print 2020 Mar 31. Postepy Biochem. 2020. PMID: 33320481 Free article. Review. Polish.
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. ...
Together with the lysosomal storage diseases, N-glycanase 1 deficiency is a congenital disorder of deglycosyl
Assay for the peptide:N-glycanase/NGLY1 and disease-specific biomarkers for diagnosing NGLY1 deficiency.
Hirayama H, Suzuki T. Hirayama H, et al. J Biochem. 2022 Feb 21;171(2):169-176. doi: 10.1093/jb/mvab127. J Biochem. 2022. PMID: 34791337 Review.
In 2012, an autosomal recessive disorder related to the NGLY1 gene, which was referred to as NGLY1 deficiency, was reported. Since then, more than 100 patients have been identified. ...To achieve this, it is critical to establish robust and facile methods for assayi …
In 2012, an autosomal recessive disorder related to the NGLY1 gene, which was referred to as NGLY1 deficiency, was reported. S …
The cytoplasmic peptide:N-glycanase (NGLY1) - Structure, expression and cellular functions.
Suzuki T, Huang C, Fujihira H. Suzuki T, et al. Gene. 2016 Feb 10;577(1):1-7. doi: 10.1016/j.gene.2015.11.021. Epub 2015 Nov 30. Gene. 2016. PMID: 26611529 Free PMC article. Review.
PNGase-mediated deglycosylation is believed to facilitate the efficient degradation of some misfolded glycoproteins. Human patients harboring mutations of NGLY1 gene (NGLY1-deficiency) have recently been discovered, clearly indicating the functional importance of th …
PNGase-mediated deglycosylation is believed to facilitate the efficient degradation of some misfolded glycoproteins. Human patients harborin …
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Himmelreich N, Dimitrov B, Geiger V, Zielonka M, Hutter AM, Beedgen L, Hüllen A, Breuer M, Peters V, Thiemann KC, Hoffmann GF, Sinning I, Dupré T, Vuillaumier-Barrot S, Barrey C, Denecke J, Kölfen W, Düker G, Ganschow R, Lentze MJ, Moore S, Seta N, Ziegler A, Thiel C. Himmelreich N, et al. Hum Mutat. 2019 Jul;40(7):938-951. doi: 10.1002/humu.23764. Epub 2019 May 8. Hum Mutat. 2019. PMID: 31067009 Review.
We add four new biochemically confirmed variants to the list of ALG3-CDG inducing variants: c.350G>C (p.R117P), c.1263G>A (p.W421*), c.1037A>G (p.N346S), and the intron variant c.296+4A>G. Furthermore, in Patient 1 an additional open-reading frame of 141 bp (AA …
We add four new biochemically confirmed variants to the list of ALG3-CDG inducing variants: c.350G>C (p.R117P), c.1263G>A (p.W421*), c …