Overproduction of N-Acetylneuraminic Acid (Sialic Acid) by Sialuria Fibroblasts

@article{Thomas1985OverproductionON,
  title={Overproduction of N-Acetylneuraminic Acid (Sialic Acid) by Sialuria Fibroblasts},
  author={G. Thomas and L. Reynolds and CAROL S. Miller},
  journal={Pediatric Research},
  year={1985},
  volume={19},
  pages={451-455}
}
ABSTRAC: Fibroblasts from the original sialuria patientare shown to contain high levels of free sialic acid, i.e., anaverage of 87 versus a normal average of 2 nmol/mg ofprotein. Gas liquid chromatography-mass spectrometryanalysis confirmed that the accumulated material is N-acetylneuraminic acid. Addition of D(+) glucosamine (0-5mM) to the media of these cells increased the intracellularfree sialic acid concentrations from 74 to 137 nmol/mgprotein. In contrast, normal cells treated in an… Expand
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Accumulation of N-acetylneuraminic acid (sialic acid) in human fibroblasts cultured in the presence of N-acetylmannosamine.
Accumulation of [3H]Sialyl-conjugates in sialidosis (sialidase-deficient) fibroblasts cultured in the presence of [3H]-N-acetylmannosamine
Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria.
Exploration of the Sialic Acid World
N-acetylneuraminic acid accumulation in a buoyant lysosomal fraction of cultured fibroblasts from patients with infantile generalized N-acetylneuraminic acid storage disease.
Infantile Sialic Acid Storage Disease: The Fate of Biosynthetically Labeled N-Acetyl-(3H)-Neuraminic Acid in Cultured Human Fibroblasts
Role of Nucleotide Sugar Pools in the Inhibition of NCAM Polysialylation by Ammonia
Evidence for non‐lysosomal storage of N‐acetylneuraminic acid (sialic acid) in sialuria fibroblasts
Clinical course and biochemistry of sialuria
The effect ofd-(+)-glucosamine on levels of freeN-acetylneuraminic acid and UDP-N-acetylhexosamines in infantile sialic acid storage disease (ISSD) fibroblasts
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References

SHOWING 1-10 OF 24 REFERENCES
Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts.
The thiobarbituric acid assay of sialic acids.
  • L. Warren
  • Chemistry, Medicine
  • The Journal of biological chemistry
  • 1959
Human liver glycoprotein sialyltransferase.
[31] CMP-sialic acid synthetase (cytidine-5′-monophospho-sialic acid synthetase)
Isolation and identification of 2-deoxy-2,3-dehydro-N-acetylneuraminic acid from the urine of a patient with sialuria.
The sialic acids. X. Purification and properties of cytidine 5'-monophosphosialic acid synthetase.
Mucolipidosis III (Pseudo-Hurler Polydystrophy): Multiple Lysosomal Enzyme Abnormalities in Serum and Cultured Fibroblast Cells
Alterations in Cultured Fibroblasts of Sibs with an Infantile Form of a Free (Unbound) Sialic Acid Storage Disorder
Uridine diphosphate N-acetyl-D-glucosamine-2-epimerase from rat liver. I. Catalytic and regulatory properties.
Glucosamine metabolism in regenerating rat liver.
...
1
2
3
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