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Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG).
Masunaga Y, Nishimura G, Takahashi K, Hishiyama T, Imamura M, Kashimada K, Kadoya M, Wada Y, Okamoto N, Oba D, Ohashi H, Ikeno M, Sakamoto Y, Fukami M, Saitsu H, Ogata T. Masunaga Y, et al. Sci Rep. 2022 Oct 12;12(1):17079. doi: 10.1038/s41598-022-21751-x. Sci Rep. 2022. PMID: 36224347 Free PMC article.
We report clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG). Patient 1 exhibited a unique constellation of clinical features including marked hydrocephalus, spond …
We report clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glyco …
What is new in CDG?
Jaeken J, Péanne R. Jaeken J, et al. J Inherit Metab Dis. 2017 Jul;40(4):569-586. doi: 10.1007/s10545-017-0050-6. Epub 2017 May 8. J Inherit Metab Dis. 2017. PMID: 28484880 Review.
Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. The latter comprise defects associated with hypoglycosylation but also defects with hyperglycosylation. ...It expands on 23 novel CDG namely defects in SLC39A8, CAD, N …
Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. The latter comprise defects as …
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.
den Hollander B, Rasing A, Post MA, Klein WM, Oud MM, Brands MM, de Boer L, Engelke UFH, van Essen P, Fuchs SA, Haaxma CA, Jensson BO, Kluijtmans LAJ, Lengyel A, Lichtenbelt KD, Østergaard E, Peters G, Salvarinova R, Simon MEH, Stefansson K, Thorarensen Ó, Ulmen U, Coene KLM, Willemsen MA, Lefeber DJ, van Karnebeek CDM. den Hollander B, et al. Front Neurol. 2021 Jun 7;12:668640. doi: 10.3389/fneur.2021.668640. eCollection 2021. Front Neurol. 2021. PMID: 34163424 Free PMC article.
Background: NANS-CDG is a recently described congenital disorder of glycosylation caused by biallelic genetic variants in NANS, encoding an essential enzyme in de novo sialic acid synthesis. ...Methods: Medical and laboratory records were reviewed with …
Background: NANS-CDG is a recently described congenital disorder of glycosylation caused by biallelic genetic variants …
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.
den Hollander B, Brands MM, de Boer L, Haaxma CA, Lengyel A, van Essen P, Peters G, Kwast HJT, Klein WM, Coene KLM, Lefeber DJ, van Karnebeek CDM. den Hollander B, et al. J Inherit Metab Dis. 2023 Sep;46(5):956-971. doi: 10.1002/jimd.12643. Epub 2023 Jul 8. J Inherit Metab Dis. 2023. PMID: 37340906
NANS-CDG is a congenital disorder of glycosylation (CDG) caused by biallelic variants in NANS, encoding an essential enzyme in de novo sialic acid synthesis. ...Here, we performed the first in-human pre- and postnatal sialic-acid study in NANS- …
NANS-CDG is a congenital disorder of glycosylation (CDG) caused by biallelic variants in NANS, encoding an essen …
NANS-CDG: Expanding clinical insights with a novel patient with novel variants.
Yoo S, Cheon CK. Yoo S, et al. Am J Med Genet A. 2024 Oct;194(10):e63721. doi: 10.1002/ajmg.a.63721. Epub 2024 Jun 1. Am J Med Genet A. 2024. PMID: 38822623
N-acetyl-d-neuraminic acid synthase-congenital disorder of glycosylation (NANS-CDG) is a rare autosomal recessive defect in the N-acetyl-neuraminic acid biosynthesis pathway. ...Exome sequencing identified unreported biallelic variants of the NANS gene …
N-acetyl-d-neuraminic acid synthase-congenital disorder of glycosylation (NANS-CDG) is a rare autosomal recessive defec …
The Role of the Hexosamine-Sialic Acid Metabolic Pathway Mediated by GFPT1/NANS in c-Myc-Driven Hepatocellular Carcinoma.
Wang S, Han P, Mi P, Wang C, Lu M, Li X, Xu B, Wang H, Gao Y, Hou Y, Tan X, Liang J, Ding X, Zhang Y, Zhang T, Yuan D, Gao L, Zhang C. Wang S, et al. Cell Mol Gastroenterol Hepatol. 2025;19(9):101523. doi: 10.1016/j.jcmgh.2025.101523. Epub 2025 Apr 24. Cell Mol Gastroenterol Hepatol. 2025. PMID: 40280277 Free PMC article.
Subsequent examination of the downstream pathways of the hexosamine biosynthetic pathway showed that the sialic acid synthesis (but not O-GlcNac glycosylation) pathway was enhanced, which was mediated by a key enzyme, N-acetylneuraminic acid synthase. ...
Subsequent examination of the downstream pathways of the hexosamine biosynthetic pathway showed that the sialic acid synthesis (but not O-Gl …
Activity of N-acylneuraminate-9-phosphatase (NANP) is not essential for de novo sialic acid biosynthesis.
Willems AP, Sun L, Schulz MA, Tian W, Ashikov A, van Scherpenzeel M, Hermans E, Clausen H, Yang Z, Lefeber DJ. Willems AP, et al. Biochim Biophys Acta Gen Subj. 2019 Oct;1863(10):1471-1479. doi: 10.1016/j.bbagen.2019.05.011. Epub 2019 May 20. Biochim Biophys Acta Gen Subj. 2019. PMID: 31121216
Sialylation of cell surface glycans was reduced by KO of GNE (UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase), NANS (sialic acid synthase) and CMAS (N-acylneuraminate cytidylyltransferase) genes, but was largely unaffected in NANP (N-acylneuraminate-9-phosp …
Sialylation of cell surface glycans was reduced by KO of GNE (UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase), NANS ( …
Analysis of Three Epoetin Alpha Products by LC and LC-MS Indicates Differences in Glycosylation Critical Quality Attributes, Including Sialic Acid Content.
Thomson RI, Gardner RA, Strohfeldt K, Fernandes DL, Stafford GP, Spencer DIR, Osborn HMI. Thomson RI, et al. Anal Chem. 2017 Jun 20;89(12):6455-6462. doi: 10.1021/acs.analchem.7b00353. Epub 2017 Jun 9. Anal Chem. 2017. PMID: 28509534 Free article.
All three are epoetin alpha products, reputed to have similar glycosylation profiles. The quality, safety, and efficacy of this biotherapeutic depend on the following glycosylation critical quality attributes (GCQAs): sialylation, N-glycolyl-neuraminic acid (Neu5Gc) …
All three are epoetin alpha products, reputed to have similar glycosylation profiles. The quality, safety, and efficacy of this bioth …
Understanding of altered N-glycosylation-related gene expression in recombinant Chinese hamster ovary cells subjected to elevated ammonium concentration by digital mRNA counting.
Ha TK, Kim YG, Lee GM. Ha TK, et al. Biotechnol Bioeng. 2015 Aug;112(8):1583-93. doi: 10.1002/bit.25568. Epub 2015 Mar 10. Biotechnol Bioeng. 2015. PMID: 25728222
To understand the effects of ammonium on N-glycosylation, recombinant Chinese hamster ovary (rCHO) cells that produce the Fc-fusion protein were cultivated in serum-free suspension cultures with 10 mM ammonium addition. ...Taken together, the results obtained in this study …
To understand the effects of ammonium on N-glycosylation, recombinant Chinese hamster ovary (rCHO) cells that produce the Fc-fusion p …