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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 deglycosylation …
NGLY1 deficiency: Novel variants and literature review.
Kariminejad A, Shakiba M, Shams M, Namiranian P, Eghbali M, Talebi S, Makvand M, Jaeken J, Najmabadi H, Hennekam RC. Kariminejad A, et al. Eur J Med Genet. 2021 Mar;64(3):104146. doi: 10.1016/j.ejmg.2021.104146. Epub 2021 Jan 23. Eur J Med Genet. 2021. PMID: 33497766 Review.
Liver biopsy demonstrates vacuolar amorphous cytoplasmic storage material. NGLY1 deficiency is caused by bi-allelic variants in NGLY1 which catalyzes protein deglycosylation. We describe five patients from two families with NGLY1 deficiency due to homo …
Liver biopsy demonstrates vacuolar amorphous cytoplasmic storage material. NGLY1 deficiency is caused by bi-allelic variants i …
Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.
Sonoda Y, Fujita A, Torio M, Mukaino T, Sakata A, Matsukura M, Yonemoto K, Hatae K, Ichimiya Y, Chong PF, Ochiai M, Wada Y, Kadoya M, Okamoto N, Murakami Y, Suzuki T, Isobe N, Shigeto H, Matsumoto N, Sakai Y, Ohga S. Sonoda Y, et al. Eur J Med Genet. 2024 Feb;67:104895. doi: 10.1016/j.ejmg.2023.104895. Epub 2023 Dec 7. Eur J Med Genet. 2024. PMID: 38070824 Free article. Review.
INTRODUCTION: NGLY1-associated congenital disorder of deglycosylation (CDDG1: OMIM #615273) is a rare autosomal recessive disorder caused by a functional impairment of endoplasmic reticulum in degradation of glycoproteins. ...
INTRODUCTION: NGLY1-associated congenital disorder of deglycosylation (CDDG1: OMIM #615273) is a rare autosomal …
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.
How do genetic tests answer questions about neurodevelopmental differences? A sociological take.
Navon D. Navon D. Dev Med Child Neurol. 2022 Dec;64(12):1462-1469. doi: 10.1111/dmcn.15376. Epub 2022 Aug 13. Dev Med Child Neurol. 2022. PMID: 35962997 Free article. Review.
If we want to understand the impact of a genetic diagnosis such as NGLY1 deficiency or the fragile X, trisomy X, or 22q11.2 deletion syndromes on people with neurodevelopmental differences, we must be mindful about what exactly a genetic test is supposed to tell us, …
If we want to understand the impact of a genetic diagnosis such as NGLY1 deficiency or the fragile X, trisomy X, or 22q11.2 de …
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