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Serum N-glycomics of a novel CDG-IIb patient reveals aberrant IgG glycosylation.
Beimdiek J, Hennig R, Burock R, Puk O, Biskup S, Rapp E, Lesinski-Schiedat A, Buettner FFR, Das AM. Beimdiek J, et al. Glycobiology. 2022 Apr 21;32(5):380-390. doi: 10.1093/glycob/cwac003. Glycobiology. 2022. PMID: 35137040
Rare genetic mutations of the mannosyl-oligosaccharide glucosidase (MOGS) gene affecting the function of the mannosyl-oligosaccharide glucosidase (glucosidase I) are the cause of the congenital disorder of glycosylation IIb (CDG-IIb). Glucosidase I specifically remo …
Rare genetic mutations of the mannosyl-oligosaccharide glucosidase (MOGS) gene affecting the function of the mannosyl-oligosaccharide glucos …
The Lec23 Chinese hamster ovary mutant is a sensitive host for detecting mutations in alpha-glucosidase I that give rise to congenital disorder of glycosylation IIb (CDG IIb).
Hong Y, Sundaram S, Shin DJ, Stanley P. Hong Y, et al. J Biol Chem. 2004 Nov 26;279(48):49894-901. doi: 10.1074/jbc.M410121200. Epub 2004 Sep 21. J Biol Chem. 2004. PMID: 15383536 Free article.
A human GCS1 cDNA reverted the Lec23 phenotype, whereas GCS1 cDNA carrying the lec23 mutation (S440F in human) did not. By contrast, GCS1 cDNA with an R486T or F652L CDG IIb mutation gave substantial rescue of the Lec23 phenotype. ...The Lec23 Chinese hamster ovary …
A human GCS1 cDNA reverted the Lec23 phenotype, whereas GCS1 cDNA carrying the lec23 mutation (S440F in human) did not. By contrast, GCS1 cD …
Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.
Anzai R, Tsuji M, Yamashita S, Wada Y, Okamoto N, Saitsu H, Matsumoto N, Goto T. Anzai R, et al. Brain Dev. 2021 Mar;43(3):402-410. doi: 10.1016/j.braindev.2020.10.013. Epub 2020 Nov 28. Brain Dev. 2021. PMID: 33261925 Free article.
We aimed to describe the clinical features of CDG- IIb and the effectiveness of urinary oligosaccharide analysis in the diagnosis of CDG- IIb. ...CONCLUSION: This report provides clinical manifestations of CDG-IIb with MOGS mutation. C …
We aimed to describe the clinical features of CDG- IIb and the effectiveness of urinary oligosaccharide analysis in the diagno …
Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb.
Li M, Xu Y, Wang Y, Yang XA, Jin D. Li M, et al. J Hum Genet. 2019 Mar;64(3):265-268. doi: 10.1038/s10038-018-0552-6. Epub 2018 Dec 26. J Hum Genet. 2019. PMID: 30587846
This study is to present two Chinese siblings who were diagnosed with congenital disorders of glycosylation (CDG) IIb because of mannosyl-oligosaccharide glucosidase (MOGS) deficiency. ...
This study is to present two Chinese siblings who were diagnosed with congenital disorders of glycosylation (CDG) IIb because …
Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb).
Völker C, De Praeter CM, Hardt B, Breuer W, Kalz-Füller B, Van Coster RN, Bause E. Völker C, et al. Glycobiology. 2002 Aug;12(8):473-83. doi: 10.1093/glycob/cwf050. Glycobiology. 2002. PMID: 12145188
Recently, we reported a novel congenital disorder of glycosylation (CDG-IIb) caused by severe deficiency of the glucosidase I. The enzyme cleaves the alpha1,2-glucose residue from the asparagine-linked Glc(3)-Man(9)-GlcNAc(2) precursor, which is crucial for oligosac …
Recently, we reported a novel congenital disorder of glycosylation (CDG-IIb) caused by severe deficiency of the glucosidase I. …
Glycosylation, hypogammaglobulinemia, and resistance to viral infections.
Sadat MA, Moir S, Chun TW, Lusso P, Kaplan G, Wolfe L, Memoli MJ, He M, Vega H, Kim LJY, Huang Y, Hussein N, Nievas E, Mitchell R, Garofalo M, Louie A, Ireland DC, Grunes C, Cimbro R, Patel V, Holzapfel G, Salahuddin D, Bristol T, Adams D, Marciano BE, Hegde M, Li Y, Calvo KR, Stoddard J, Justement JS, Jacques J, Priel DAL, Murray D, Sun P, Kuhns DB, Boerkoel CF, Chiorini JA, Di Pasquale G, Verthelyi D, Rosenzweig SD. Sadat MA, et al. N Engl J Med. 2014 Apr 24;370(17):1615-1625. doi: 10.1056/NEJMoa1302846. Epub 2014 Apr 9. N Engl J Med. 2014. PMID: 24716661 Free PMC article.
Genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase (the first enzyme in the processing pathway of N-linked oligosaccharide), cause the rare congenital disorder of glycosylation type IIb (CDG-IIb), also known as MOGS-CDG. MOGS is expresse …
Genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase (the first enzyme in the processing pathway of N-linked olig …
Deficiency of α-glucosidase I alters glycoprotein glycosylation and lifespan in Caenorhabditis elegans.
Katoh T, Takase J, Tani Y, Amamoto R, Aoshima N, Tiemeyer M, Yamamoto K, Ashida H. Katoh T, et al. Glycobiology. 2013 Oct;23(10):1142-51. doi: 10.1093/glycob/cwt051. Epub 2013 Jul 7. Glycobiology. 2013. PMID: 23836288 Free PMC article.
Taken together, these studies in C. elegans demonstrate that decreased ER alpha-glucosidase I affects the entire N-glycan profile and induces chronic ER stress, which may contribute to the pathophysiology of CDG-IIb in humans....
Taken together, these studies in C. elegans demonstrate that decreased ER alpha-glucosidase I affects the entire N-glycan profile and induce …