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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.
Accumulating evidence also points out that NGLY1 deficiency can cause an autosomal recessive (AR) human genetic disorder associated with abnormal development and congenital disorder of deglycosylation. ...The current comprehensive review …
Accumulating evidence also points out that NGLY1 deficiency can cause an autosomal recessive (AR) human genetic disorder …
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. ...We will al …
The 2012 identification of recessive NGLY1 mutations in a rare multisystem disorder has led to intense research efforts on the …
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.
Recessive mutations in human N-glycanase 1 (NGLY1) cause a multisystem disorder with various phenotypes including global developmental delay. One of the models utilized to understand the biology of NGLY1 and the pathophysiology of NGLY1 deficiency …
Recessive mutations in human N-glycanase 1 (NGLY1) cause a multisystem disorder with various phenotypes including global devel …
[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. ...The most characteristic symptoms include global developme …
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.
NGLY1 deficiency is a recently described autosomal recessive disorder, involved in deglycosylation of proteins, and for that reason grouped as the congenital disorders of deglycosylation together with the lysosomal storage disorders. ...L …
NGLY1 deficiency is a recently described autosomal recessive disorder, involved in deglycosylation of proteins, …
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. ...In this mini review, we summarize progress made in the development of various assay methods for NGLY1 activity, as we …
In 2012, an autosomal recessive disorder related to the NGLY1 gene, which was referred to as NGLY1 deficiency, w …
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.
NGLY1/Ngly1 is a cytosolic peptide:N-glycanase, i.e. de-N-glycosylating enzyme acting on N-glycoproteins in mammals, generating free, unconjugated N-glycans and deglycosylated peptides in which the N-glycosylated asparagine residues are converted to aspartates. ...H …
NGLY1/Ngly1 is a cytosolic peptide:N-glycanase, i.e. de-N-glycosylating enzyme acting on N-glycoproteins in mammals, generatin …
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 …
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.
ALG3-CDG is one of the very rare types of congenital disorder of glycosylation (CDG) caused by variants in the ER-mannosyltransferase ALG3. ...
ALG3-CDG is one of the very rare types of congenital disorder of glycosylation (CDG) caused by variants in the ER-mannosyltran …
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
Abuduxikuer K, Zou L, Wang L, Chen L, Wang JS. Abuduxikuer K, et al. J Hum Genet. 2020 Apr;65(4):387-396. doi: 10.1038/s10038-019-0719-9. Epub 2020 Jan 21. J Hum Genet. 2020. PMID: 31965062 Review.
NGLY1 deficiency is the first and only autosomal recessive congenital disorder of N-linked deglycosylation (NGLY1-CDDG). To date, no patients with NGLY1 deficiency has been reported from mainland China or East Asia in Englis …
NGLY1 deficiency is the first and only autosomal recessive congenital disorder of N-linked deglycosylation …