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Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Maia N, Potelle S, Yildirim H, Duvet S, Akula SK, Schulz C, Wiame E, Gheldof A, O'Kane K, Lai A, Sermon K, Proisy M, Loget P, Attié-Bitach T, Quelin C, Fortuna AM, Soares AR, de Brouwer APM, Van Schaftingen E, Nassogne MC, Walsh CA, Stouffs K, Jorge P, Jansen AC, Foulquier F. Maia N, et al. Am J Hum Genet. 2022 Feb 3;109(2):345-360. doi: 10.1016/j.ajhg.2021.12.010. Epub 2022 Jan 18. Am J Hum Genet. 2022. PMID: 35045343 Free PMC article.
Free oligosaccharides (fOSs) are soluble oligosaccharide species generated during N-glycosylation of proteins. Although little is known about fOS metabolism, the recent identification of NGLY1 deficiency, a congenital disorder of deglycosylation (CDDG) caused by los …
Free oligosaccharides (fOSs) are soluble oligosaccharide species generated during N-glycosylation of proteins. Although little is kno …
NGLY1-Related Congenital Disorder of Deglycosylation.
Lam C, Wolfe L, Need A, Shashi V, Enns G. Lam C, et al. 2018 Feb 8. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2018 Feb 8. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 29419975 Free Books & Documents. Review.
Other findings may include obstructive and/or central sleep apnea, oral motor defects that affect feeding ability, auditory neuropathy, constipation, scoliosis, and peripheral neuropathy. DIAGNOSIS/TESTING: The diagnosis of NGLY1-CDDG is established in a proband by …
Other findings may include obstructive and/or central sleep apnea, oral motor defects that affect feeding ability, auditory neuropathy, cons …
Mitochondrial function requires NGLY1.
Kong J, Peng M, Ostrovsky J, Kwon YJ, Oretsky O, McCormick EM, He M, Argon Y, Falk MJ. Kong J, et al. Mitochondrion. 2018 Jan;38:6-16. doi: 10.1016/j.mito.2017.07.008. Epub 2017 Jul 25. Mitochondrion. 2018. PMID: 28750948 Free PMC article.
Following identification of altered muscle and liver mitochondrial amount and function in two children with a CDG subtype caused by NGLY1 deficiency, we evaluated mitochondrial physiology in NGLY1 disease human fibroblasts, and in NGLY1-knockout mouse embryon …
Following identification of altered muscle and liver mitochondrial amount and function in two children with a CDG subtype caused by NGLY1 …
Coupled deglycosylation-ubiquitination cascade in regulating PD-1 degradation by MDM2.
Wu Z, Cao Z, Yao H, Yan X, Xu W, Zhang M, Jiao Z, Zhang Z, Chen J, Liu Y, Zhang M, Wang D. Wu Z, et al. Cell Rep. 2023 Jul 25;42(7):112693. doi: 10.1016/j.celrep.2023.112693. Epub 2023 Jun 27. Cell Rep. 2023. PMID: 37379210 Free article.
Here, we report crosstalk between deglycosylation and ubiquitination in regulating PD-1 stability. We show that the removal of N-linked glycosylation is a prerequisite for efficient PD-1 ubiquitination and degradation. ...In addition, the presence of MDM2 facilitates glyco …
Here, we report crosstalk between deglycosylation and ubiquitination in regulating PD-1 stability. We show that the removal of N-linked g …
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 also cover the b …
The 2012 identification of recessive NGLY1 mutations in a rare multisystem disorder has led to intense research efforts on the roles …
N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts.
Budhraja R, Saraswat M, De Graef D, Ranatunga W, Ramarajan MG, Mousa J, Kozicz T, Pandey A, Morava E. Budhraja R, et al. J Inherit Metab Dis. 2023 Jan;46(1):76-91. doi: 10.1002/jimd.12557. Epub 2022 Oct 4. J Inherit Metab Dis. 2023. PMID: 36102038 Free PMC article.
Despite the essential role of NGLY1 in deglycosylation pathways, the exact consequences of NGLY1 deficiency on global cellular protein glycosylation have not yet been investigated. ...Overall, we observed distinct alterations in specific glycoproteins, but ou …
Despite the essential role of NGLY1 in deglycosylation pathways, the exact consequences of NGLY1 deficiency on global cellular …
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
Lipiński P, Bogdańska A, Różdżyńska-Świątkowska A, Wierzbicka-Rucińska A, Tylki-Szymańska A. Lipiński P, et al. JIMD Rep. 2020 Jan 30;51(1):82-88. doi: 10.1002/jmd2.12086. eCollection 2020 Jan. JIMD Rep. 2020. PMID: 32071843 Free PMC article.
OBJECTIVES: Together with the lysosomal storage diseases, NGLY1 deficiency is a congenital disorder of deglycosylation (NGLY1-CDDG). ...CONCLUSIONS: NGLY1-CDDG should be considered in patients with developmental disability associated with a hype …
OBJECTIVES: Together with the lysosomal storage diseases, NGLY1 deficiency is a congenital disorder of deglycosylation (NGLY1- …
Regulation of BMP4/Dpp retrotranslocation and signaling by deglycosylation.
Galeone A, Adams JM, Matsuda S, Presa MF, Pandey A, Han SY, Tachida Y, Hirayama H, Vaccari T, Suzuki T, Lutz CM, Affolter M, Zuberi A, Jafar-Nejad H. Galeone A, et al. Elife. 2020 Jul 28;9:e55596. doi: 10.7554/eLife.55596. Elife. 2020. PMID: 32720893 Free PMC article.
Here, we establish the Drosophila Dpp and its mouse ortholog BMP4 as biologically relevant targets of NGLY1 and find, unexpectedly, that NGLY1-mediated deglycosylation of misfolded BMP4 is required for its retrotranslocation. ...Our study redefines the role of NG …
Here, we establish the Drosophila Dpp and its mouse ortholog BMP4 as biologically relevant targets of NGLY1 and find, unexpectedly, t …
Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation.
Lipiński P, Bogdańska A, Socha P, Tylki-Szymańska A. Lipiński P, et al. Front Pediatr. 2021 Jul 5;9:696918. doi: 10.3389/fped.2021.696918. eCollection 2021. Front Pediatr. 2021. PMID: 34291020 Free PMC article.
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 stud …
Background: Congenital disorders of glycosylation (CDG) and NGLY1-CDDG (NGLY1-congenital disorder of deglycosyla …
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.
Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, Freeze HH, Gahl WA, Nickander KK, Sharer JD, Watson CM, Wolfe L, Raymond KM. Hall PL, et al. Mol Genet Metab. 2018 May;124(1):82-86. doi: 10.1016/j.ymgme.2018.03.002. Epub 2018 Mar 10. Mol Genet Metab. 2018. PMID: 29550355 Free PMC article.
N-glycanase deficiency (NGLY1 deficiency, NGLY1-CDDG), the first autosomal recessive congenital disorder of N-linked deglycosylation (CDDG), is caused by pathogenic variants in NGLY1. ...Additional studies using tandem mass spectrometry confirmed the a …
N-glycanase deficiency (NGLY1 deficiency, NGLY1-CDDG), the first autosomal recessive congenital disorder of N-linked de …
29 results